Variant report

Variant	esv3326352
Chromosome Location	chr17:43473019-43475517
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:59)
CpG islands
(count:183)
Chromatin interactive
region (count:14)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:59 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CBX3	chr17:43471855-43473067	K562	blood:	n/a	n/a
2	CHD2	chr17:43472375-43473029	K562	blood:	n/a	n/a
3	CREB1	chr17:43472319-43473035	H1-hESC	embryonic stem cell:	n/a	n/a
4	CREB1	chr17:43472028-43473093	K562	blood:	n/a	n/a
5	CTCF	chr17:43473540-43473690	K562	blood:	n/a	chr17:43473656-43473669
6	CTCF	chr17:43474334-43474388	H1-hESC	embryonic stem cell:	n/a	n/a
7	CTCF	chr17:43473540-43473690	HRE	kidney:	n/a	chr17:43473656-43473669
8	CTCF	chr17:43473620-43473770	HEK293	kidney:	n/a	chr17:43473656-43473669
9	CTCF	chr17:43473566-43473694	HepG2	liver:	n/a	chr17:43473656-43473669
10	CTCF	chr17:43473580-43473730	HBMEC	blood vessel:	n/a	chr17:43473656-43473669
11	CTCF	chr17:43475220-43475370	Hela-S3	cervix:	n/a	n/a
12	CTCF	chr17:43473080-43473230	GM12865	blood:	n/a	n/a
13	CTCF	chr17:43473578-43473665	MCF-7	breast:	n/a	n/a
14	CTCF	chr17:43473680-43473830	GM12865	blood:	n/a	n/a
15	CTCF	chr17:43473620-43473770	HepG2	liver:	n/a	chr17:43473656-43473669
16	CTCF	chr17:43473600-43473750	AG04449	skin:	n/a	chr17:43473656-43473669
17	CTCF	chr17:43472412-43473074	HCT-116	colon:	n/a	n/a
18	CTCF	chr17:43473594-43473705	K562	blood:	n/a	chr17:43473656-43473669
19	CTCF	chr17:43473000-43473150	GM12865	blood:	n/a	n/a
20	CTCF	chr17:43473611-43473676	MCF-7	breast:	n/a	chr17:43473656-43473669
21	CTCF	chr17:43474300-43474450	AG04449	skin:	n/a	n/a
22	CTCF	chr17:43473020-43473170	Hela-S3	cervix:	n/a	n/a
23	CTCF	chr17:43472880-43473030	SAEC	small airway:	n/a	n/a
24	CTCF	chr17:43472880-43473030	AG10803	skin:	n/a	n/a
25	CTCF	chr17:43473560-43473710	HCM	heart:	n/a	chr17:43473656-43473669
26	CTCF	chr17:43473579-43473722	Hela-S3	cervix:	n/a	chr17:43473656-43473669
27	CTCF	chr17:43473640-43473790	Hela-S3	cervix:	n/a	chr17:43473656-43473669
28	CTCF	chr17:43473580-43473730	HEK293	kidney:	n/a	chr17:43473656-43473669
29	CTCF	chr17:43471819-43473132	SK-N-SH	brain:	n/a	n/a
30	CTCF	chr17:43471985-43473095	A549	lung:	n/a	n/a
31	CTCF	chr17:43473522-43473576	Lung_OC	lung:	n/a	n/a
32	CTCF	chr17:43473597-43473709	H1-hESC	embryonic stem cell:	n/a	chr17:43473656-43473669
33	CTCF	chr17:43473520-43473670	WERI-Rb-1	eye:	n/a	chr17:43473656-43473669
34	CTCF	chr17:43473540-43473690	HCT-116	colon:	n/a	chr17:43473656-43473669
35	CTCFL	chr17:43473596-43473729	K562	blood:	n/a	n/a
36	GABPA	chr17:43472572-43473223	H1-hESC	embryonic stem cell:	n/a	n/a
37	HMGN3	chr17:43474135-43474245	K562	blood:	n/a	n/a
38	MAX	chr17:43472328-43473183	H1-hESC	embryonic stem cell:	n/a	n/a
39	MAX	chr17:43472376-43473222	H1-hESC	embryonic stem cell:	n/a	n/a
40	MAX	chr17:43471942-43473112	K562	blood:	n/a	n/a
41	MAZ	chr17:43472220-43473020	IMR90	lung:	n/a	n/a
42	POLR2A	chr17:43472514-43473094	H1-hESC	embryonic stem cell:	n/a	n/a
43	POLR2A	chr17:43472826-43473062	MCF-7	breast:	n/a	n/a
44	POLR2A	chr17:43473726-43474043	GM12878	blood:	n/a	n/a
45	POLR2A	chr17:43473163-43473165	MCF-7	breast:	n/a	n/a
46	POLR2A	chr17:43473085-43473218	MCF-7	breast:	n/a	n/a
47	POLR2A	chr17:43475334-43475472	MCF-7	breast:	n/a	n/a
48	POLR2A	chr17:43474454-43474598	HepG2	liver:	n/a	n/a
49	POLR2A	chr17:43473293-43474184	HL-60	blood:	n/a	n/a
50	POLR2A	chr17:43473698-43474040	GM12878	blood:	n/a	n/a

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr17:43473508-43473558	HCF	heart:	n/a
2	chr17:43473940-43473990	NHDF-neo	bronchial:	n/a
3	chr17:43473940-43473990	AG09309	skin:	n/a
4	chr17:43473508-43473558	NHDF-neo	bronchial:	n/a
5	chr17:43473508-43473558	AG04449	skin:	fetal
6	chr17:43474387-43474437	GM12878	blood:	n/a
7	chr17:43473508-43473558	HL-60	blood:	n/a
8	chr17:43474387-43474437	ovcar-3	ovarian:	n/a
9	chr17:43473940-43473990	Jurkat	blood:	n/a
10	chr17:43474387-43474437	NT2-D1	testis:	n/a
11	chr17:43473508-43473558	HepG2	liver:	n/a
12	chr17:43473940-43473990	NH-A	brain:	n/a
13	chr17:43473508-43473558	IMR90	lung:	fetal
14	chr17:43474387-43474437	LNCaP	prostate:	n/a
15	chr17:43474387-43474437	HRPEpiC	eye:	n/a
16	chr17:43473940-43473990	AoSMC	blood vessel:	n/a
17	chr17:43474387-43474437	T-47D	breast:	n/a
18	chr17:43473940-43473990	GM12878	blood:	n/a
19	chr17:43473940-43473990	MCF10A-Er-Src	breast:	n/a
20	chr17:43474387-43474437	AG10803	skin:	n/a
21	chr17:43473508-43473558	SKMC	muscle:	n/a
22	chr17:43474387-43474437	HEK293	kidney:	embryo
23	chr17:43473940-43473990	PFSK-1	brain:	n/a
24	chr17:43473940-43473990	SK-N-SH	brain:	n/a
25	chr17:43473940-43473990	H1-hESC	embryonic stem cell:	embryo
26	chr17:43473508-43473558	NHBE	bronchial:	n/a
27	chr17:43474387-43474437	SK-N-SH	brain:	n/a
28	chr17:43473940-43473990	Hepatocyte	liver:	n/a
29	chr17:43473508-43473558	Hepatocyte	liver:	n/a
30	chr17:43474387-43474437	HRE	kidney:	n/a
31	chr17:43473508-43473558	AG09319	gingival:	n/a
32	chr17:43473940-43473990	ovcar-3	ovarian:	n/a
33	chr17:43473940-43473990	NHBE	bronchial:	n/a
34	chr17:43473940-43473990	GM19239	blood:	n/a
35	chr17:43473940-43473990	BJ	skin:	n/a
36	chr17:43473508-43473558	RPTEC	kidney:	n/a
37	chr17:43473508-43473558	NT2-D1	testis:	n/a
38	chr17:43473508-43473558	AG04450	lung:	fetal
39	chr17:43473940-43473990	Hela-S3	cervix:	n/a
40	chr17:43473508-43473558	MCF-7	breast:	n/a
41	chr17:43473940-43473990	Caco-2	colon:	n/a
42	chr17:43474387-43474437	GM12891	blood:	n/a
43	chr17:43473508-43473558	AoSMC	blood vessel:	n/a
44	chr17:43474387-43474437	HNPCEpiC	eye:	n/a
45	chr17:43473508-43473558	HEK293	kidney:	embryo
46	chr17:43473940-43473990	GM12891	blood:	n/a
47	chr17:43473940-43473990	IMR90	lung:	fetal
48	chr17:43473508-43473558	HMEC	breast:	n/a
49	chr17:43473940-43473990	K562	blood:	n/a
50	chr17:43473508-43473558	ovcar-3	ovarian:	n/a

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:43472340..43474353-chr17:43475063..43477923,2	MCF-7	breast:
2	chr17:43223116..43227128-chr17:43469406..43473428,5	K562	blood:
3	chr17:43470189..43473270-chr17:43928805..43930448,3	K562	blood:
4	chr17:43237513..43239444-chr17:43475140..43477284,2	K562	blood:
5	chr17:43464303..43467562-chr17:43468754..43473141,4	K562	blood:
6	chr17:43472054..43473039-chr3:150213268..150214033,2	K562	blood:
7	chr17:43390465..43391148-chr17:43474484..43475336,2	MCF-7	breast:
8	chr17:43354264..43355239-chr17:43472421..43473125,2	K562	blood:
9	chr17:43224490..43227128-chr17:43469983..43473428,4	K562	blood:
10	chr17:43473624..43476541-chr17:43485121..43487805,2	MCF-7	breast:
11	chr17:43325425..43327418-chr17:43475359..43477047,2	K562	blood:
12	chr17:43471887..43473377-chr17:43502761..43503819,7	MCF-7	breast:
13	chr17:43471474..43473219-chr17:43479140..43481186,2	K562	blood:
14	chr17:43323688..43325559-chr17:43471768..43473343,2	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC091132.1-6	chr17:43474690-43474843	ENSG00000267344.1
2	lnc-AC091132.1-6	chr17:43474298-43474600	ENSG00000267344.1

No data

Variant related genes	Relation type
ENSG00000267344	TF binding region
ARHGAP27	TF binding region
ENSG00000267344	CpG island
ARHGAP27	CpG island
ENSG00000224505	chromatin interactions
ENSG00000159314	chromatin interactions
ENSG00000186834	chromatin interactions
ENSG00000233483	chromatin interactions
ENSG00000267278	chromatin interactions
ENSG00000168517	chromatin interactions
ENSG00000267344	chromatin interactions

Extended variants
information (count: 137 )
Associated
traits (count: 114 )

Variant overlapped rSNPs/rCNVs (count:137 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs569050027	chr17:43473024-43473025	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
2	rs575851937	chr17:43473030-43473031	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs183541217	chr17:43473044-43473045	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs375883126	chr17:43473062-43473063	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs546673068	chr17:43473098-43473099	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs188239464	chr17:43473100-43473101	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs2905455	chr17:43473103-43473104	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs554944521	chr17:43473104-43473105	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs374713712	chr17:43473127-43473128	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs376587910	chr17:43473174-43473175	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs200476306	chr17:43473189-43473190	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs199688529	chr17:43473247-43473248	Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs560038379	chr17:43473255-43473256	Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs572422011	chr17:43473256-43473257	Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs368845773	chr17:43473262-43473263	Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs191335964	chr17:43473267-43473268	Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs546126035	chr17:43473269-43473270	Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs564690466	chr17:43473274-43473275	Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs573386858	chr17:43473277-43473278	Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs540686038	chr17:43473282-43473283	Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs562089381	chr17:43473305-43473306	Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
22	rs375983691	chr17:43473306-43473307	Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
23	rs62064597	chr17:43473307-43473308	Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs550938120	chr17:43473316-43473317	Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
25	rs371200722	chr17:43473338-43473339	Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
26	rs3169693	chr17:43473362-43473363	Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs146181441	chr17:43473370-43473371	Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs139134704	chr17:43473446-43473447	Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers ZNF genes & repeats	TF binding region	2 gene(s)	Overlapped CNVs	n/a
29	rs201653326	chr17:43473482-43473483	Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers ZNF genes & repeats	TF binding region	2 gene(s)	Overlapped CNVs	n/a
30	rs566282590	chr17:43473494-43473495	Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers ZNF genes & repeats	TF binding region	2 gene(s)	Overlapped CNVs	n/a
31	rs374952036	chr17:43473521-43473522	Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers ZNF genes & repeats	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
32	rs377722433	chr17:43473532-43473533	Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers ZNF genes & repeats	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
33	rs368477600	chr17:43473545-43473546	Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers ZNF genes & repeats	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
34	rs371609350	chr17:43473563-43473564	Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers ZNF genes & repeats	TF binding region	2 gene(s)	Overlapped CNVs	n/a
35	rs374691739	chr17:43473567-43473568	Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers ZNF genes & repeats	TF binding region	2 gene(s)	Overlapped CNVs	n/a
36	rs201648544	chr17:43473573-43473574	Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers ZNF genes & repeats	TF binding region	2 gene(s)	Overlapped CNVs	n/a
37	rs144020235	chr17:43473587-43473588	Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers ZNF genes & repeats	TF binding region	2 gene(s)	Overlapped CNVs	n/a
38	rs146454541	chr17:43473603-43473604	Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region	2 gene(s)	Overlapped CNVs	n/a
39	rs374182883	chr17:43473605-43473606	Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region	2 gene(s)	Overlapped CNVs	n/a
40	rs530491453	chr17:43473637-43473638	Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs113604190	chr17:43473639-43473640	Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs17630836	chr17:43473640-43473641	Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs146946789	chr17:43473690-43473691	Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs367713495	chr17:43473696-43473697	Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs368506644	chr17:43473701-43473702	Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs372585905	chr17:43473708-43473709	Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs575887643	chr17:43473710-43473711	Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs34337698	chr17:43473753-43473754	Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs540086629	chr17:43473770-43473771	Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs558073474	chr17:43473789-43473790	Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:114)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Ovarian cancer	22174824	CNVD
Melanoma	18172304	CNVD
Moyamoya disease	22323933	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ovarian cancer	21781307	CNVD
Colorectal cancer	21645411	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell lymphomas	19863542	CNVD
Cancer	16751803	CNVD
Chordoma	21602918	CNVD
Neurofibromatosis	20686819	CNVD
Peripheral nerve sheath tumors	20686819	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	17897457	CNVD
Neuroblastoma	17327916	CNVD
Breast cancer	21264507	CNVD
Endometrial cancer	22040021	CNVD
Neuroblastoma	21484798	CNVD
Breast cancer	22028636	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute myeloid leukemia	20724749	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Gastric cancer	17167181	CNVD
Breast cancer	19287154	CNVD
Leukemia	20874852	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Neuroblastoma	18664255	CNVD
Neuroblastoma	17533364	CNVD
Human rectal carcinomas	16397240	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Breast cancer	17457667	CNVD
Breast cancer	16951389	CNVD
Basal cell lymphoma	17053054	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22048815	CNVD
Breast cancer	17603634	CNVD
Follicular lymphoma	20505157	CNVD
Non-small cell lung cancer	20864512	CNVD
Cancer	21183584	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	20953835	CNVD
Thyroid cancer	19087340	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
TAR Syndrome	17847015	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	17850661	CNVD
Breast cancer	19261255	CNVD
Lung cancer	16773561	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Basal-like breast cancer	18066063	CNVD
Breast cancer	20031965	CNVD
Colorectal cancer	19287155	CNVD
Hereditary breast	19566914	CNVD
Ovarian cancer	19047089	CNVD
Ovarian cancer	19566914	CNVD
Triple-negative breast cancer	18950515	CNVD
Breast cancer	16846527	CNVD
Bladder cancer	21909424	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Neuroticism	17667963	CNVD
Prostate cancer	19156837	CNVD
Williams-beuren syndrome	18553513	CNVD
Mental retardation	17847001	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Ewing''s sarcoma	18628472	CNVD
Glioblastoma multiforme	18628472	CNVD
Leukemia	18628472	CNVD
Acute myeloid leukemia	21251322	CNVD
Astrocytoma	22246337	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	22817714	CNVD
Non-syndromic sensorineural hearing loss	21084979	CNVD
Ewing''s sarcoma	22429812	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Melanoma	17363583	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21509527	CNVD

Chromatin state (count:175 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:43460800-43474800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr17:43463000-43473600	Weak transcription	Left Ventricle	heart
3	chr17:43463000-43482400	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr17:43466200-43474400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr17:43466600-43474800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr17:43467600-43474600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr17:43469200-43473400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr17:43470600-43482400	Strong transcription	Rectal Mucosa Donor 29	rectum
9	chr17:43470800-43483000	Strong transcription	Lung	lung
10	chr17:43470800-43483200	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr17:43470800-43483400	Strong transcription	Primary neutrophils fromperipheralblood	blood
12	chr17:43470800-43483600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr17:43471000-43475000	Weak transcription	Small Intestine	intestine
14	chr17:43471000-43475800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr17:43471000-43482800	Strong transcription	Primary B cells from peripheral blood	blood
16	chr17:43471000-43483200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr17:43471000-43484400	Strong transcription	Thymus	Thymus
18	chr17:43471400-43477000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr17:43471400-43483000	Strong transcription	Primary monocytes fromperipheralblood	blood
20	chr17:43471400-43483400	Strong transcription	Dnd41	blood
21	chr17:43471600-43483200	Strong transcription	Sigmoid Colon	Sigmoid Colon
22	chr17:43471600-43483400	Strong transcription	Primary T helper cells fromperipheralblood	blood
23	chr17:43471600-43483800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr17:43471600-43484600	Strong transcription	Primary T cells from cord blood	blood
25	chr17:43471800-43474800	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr17:43471800-43483600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr17:43471800-43483600	Strong transcription	GM12878-XiMat	blood
28	chr17:43471800-43483800	Strong transcription	Primary T helper cells PMA-I stimulated	--
29	chr17:43472000-43473200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr17:43472000-43483200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr17:43472200-43473200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr17:43472200-43473200	Genic enhancers	Adipose Nuclei	Adipose
33	chr17:43472200-43473200	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
34	chr17:43472200-43473400	Active TSS	Colon Smooth Muscle	Colon
35	chr17:43472200-43473600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr17:43472200-43473800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr17:43472200-43474200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr17:43472400-43473200	Genic enhancers	Colonic Mucosa	Colon
39	chr17:43472400-43473200	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
40	chr17:43472400-43473200	Flanking Active TSS	NH-A	brain
41	chr17:43472400-43473200	Flanking Active TSS	Osteobl	bone
42	chr17:43472400-43473400	Flanking Active TSS	Fetal Muscle Leg	muscle
43	chr17:43472400-43473400	Genic enhancers	Placenta Amnion	Placenta Amnion
44	chr17:43472400-43483000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
45	chr17:43472600-43473200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr17:43472600-43473200	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
47	chr17:43472600-43473200	Active TSS	Fetal Lung	lung
48	chr17:43472600-43473200	Genic enhancers	Gastric	stomach
49	chr17:43472600-43473200	Weak transcription	HepG2	liver
50	chr17:43472600-43473600	Strong transcription	Right Atrium	heart

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