Variant report

Variant	esv3436549
Chromosome Location	chr1:180880954-180883502
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:121)
CpG islands
(count:610)
Chromatin interactive
region (count:3)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:121 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr1:180881122-180882154	H1-hESC	embryonic stem cell:	n/a	n/a
2	BACH1	chr1:180882515-180882697	H1-hESC	embryonic stem cell:	n/a	n/a
3	BRCA1	chr1:180881338-180881401	H1-hESC	embryonic stem cell:	n/a	n/a
4	CCNT2	chr1:180882279-180882329	K562	blood:	n/a	n/a
5	CEBPB	chr1:180880682-180880988	IMR90	lung:	n/a	n/a
6	CHD1	chr1:180881927-180882320	GM12878	blood:	n/a	chr1:180882258-180882268
7	CHD1	chr1:180881221-180881426	GM12878	blood:	n/a	n/a
8	CHD1	chr1:180881860-180881934	H1-hESC	embryonic stem cell:	n/a	n/a
9	CHD2	chr1:180882411-180882522	GM12878	blood:	n/a	n/a
10	CHD2	chr1:180880927-180881273	GM12878	blood:	n/a	n/a
11	CTBP2	chr1:180880845-180882924	H1-hESC	embryonic stem cell:	n/a	n/a
12	CTCF	chr1:180881980-180882130	AG04449	skin:	n/a	n/a
13	CTCF	chr1:180881200-180881350	GM06990	blood:	n/a	n/a
14	CTCF	chr1:180881697-180881706	GM19238	blood:	n/a	n/a
15	CTCF	chr1:180881302-180881352	H1-hESC	embryonic stem cell:	n/a	n/a
16	CTCF	chr1:180881120-180881270	HA-sp	spinal cord:	n/a	n/a
17	CTCF	chr1:180882057-180882139	GM19239	blood:	n/a	n/a
18	CTCF	chr1:180881540-180881690	GM12871	blood:	n/a	n/a
19	CTCF	chr1:180881200-180881350	GM12873	blood:	n/a	n/a
20	CTCF	chr1:180881675-180881767	GM19239	blood:	n/a	chr1:180881700-180881713
21	CTCF	chr1:180881220-180881370	HFF	foreskin:	n/a	n/a
22	CTCF	chr1:180881361-180881365	GM19238	blood:	n/a	n/a
23	CTCF	chr1:180881160-180881310	HUVEC	blood vessel:	n/a	n/a
24	CTCF	chr1:180881220-180881370	HBMEC	blood vessel:	n/a	n/a
25	CTCF	chr1:180881200-180881350	AG09319	gingival:	n/a	n/a
26	CTCF	chr1:180881265-180881359	GM19238	blood:	n/a	n/a
27	CTCF	chr1:180881300-180881450	GM12872	blood:	n/a	n/a
28	CTCF	chr1:180881288-180881428	GM12878	blood:	n/a	n/a
29	CTCF	chr1:180881580-180881730	GM12874	blood:	n/a	chr1:180881700-180881713
30	E2F6	chr1:180881191-180881924	H1-hESC	embryonic stem cell:	n/a	chr1:180881432-180881442 chr1:180881328-180881338 chr1:180881768-180881775 chr1:180881768-180881775 chr1:180881434-180881443 chr1:180881768-180881775
31	E2F6	chr1:180880896-180881958	H1-hESC	embryonic stem cell:	n/a	chr1:180881432-180881442 chr1:180881328-180881338 chr1:180881768-180881775 chr1:180881768-180881775 chr1:180881434-180881443 chr1:180881768-180881775
32	EBF1	chr1:180881938-180882179	GM12878	blood:	n/a	n/a
33	EBF1	chr1:180881405-180881505	GM12878	blood:	n/a	n/a
34	EBF1	chr1:180881889-180881997	GM12878	blood:	n/a	n/a
35	EP300	chr1:180881198-180881343	GM12878	blood:	n/a	n/a
36	GTF2F1	chr1:180881467-180881568	H1-hESC	embryonic stem cell:	n/a	n/a
37	JUND	chr1:180881882-180882046	H1-hESC	embryonic stem cell:	n/a	n/a
38	JUND	chr1:180882129-180882283	H1-hESC	embryonic stem cell:	n/a	n/a
39	JUND	chr1:180881402-180881565	H1-hESC	embryonic stem cell:	n/a	n/a
40	MAX	chr1:180881264-180881943	ECC-1	luminal epithelium:	n/a	chr1:180881689-180881699
41	MAX	chr1:180881239-180881860	H1-hESC	embryonic stem cell:	n/a	chr1:180881689-180881699
42	MAX	chr1:180881327-180882130	ECC-1	luminal epithelium:	n/a	chr1:180881689-180881699
43	MAX	chr1:180882049-180882141	GM12878	blood:	n/a	n/a
44	MAX	chr1:180881269-180881833	H1-hESC	embryonic stem cell:	n/a	chr1:180881689-180881699
45	MAX	chr1:180881353-180881805	GM12878	blood:	n/a	chr1:180881689-180881699
46	MAZ	chr1:180880823-180883145	IMR90	lung:	n/a	chr1:180882510-180882520 chr1:180881689-180881699
47	MAZ	chr1:180881159-180881289	GM12878	blood:	n/a	n/a
48	MAZ	chr1:180881728-180882197	GM12878	blood:	n/a	n/a
49	MXI1	chr1:180882091-180882098	GM12878	blood:	n/a	n/a
50	MXI1	chr1:180881476-180881687	GM12878	blood:	n/a	n/a

(count:610 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:180881088-180881138	Hepatocyte	liver:	n/a
2	chr1:180881088-180881138	HEK293	kidney:	embryo
3	chr1:180881646-180881696	MCF-7	breast:	n/a
4	chr1:180882591-180882641	AG04449	skin:	fetal
5	chr1:180881088-180881138	PANC-1	pancreas:	n/a
6	chr1:180881583-180881633	K562	blood:	n/a
7	chr1:180881646-180881696	BE2_C	brain:	n/a
8	chr1:180881086-180881136	HRCEpiC	kidney:	n/a
9	chr1:180881086-180881136	GM12891	blood:	n/a
10	chr1:180882591-180882641	HAEpiC	amniotic membrane:	n/a
11	chr1:180881480-180881530	BE2_C	brain:	n/a
12	chr1:180882287-180882337	H1-hESC	embryonic stem cell:	embryo
13	chr1:180881088-180881138	ovcar-3	ovarian:	n/a
14	chr1:180881163-180881213	HCPEpiC	choroid plexus:	n/a
15	chr1:180882591-180882641	H1-hESC	embryonic stem cell:	embryo
16	chr1:180881480-180881530	NB4	blood:	n/a
17	chr1:180881480-180881530	A549	lung:	n/a
18	chr1:180882681-180882731	HPAEpiC	pulmonary alveolar:	n/a
19	chr1:180882655-180882705	NB4	blood:	n/a
20	chr1:180881646-180881696	HNPCEpiC	eye:	n/a
21	chr1:180881480-180881530	HEK293	kidney:	embryo
22	chr1:180881646-180881696	HRPEpiC	eye:	n/a
23	chr1:180882591-180882641	A549	lung:	n/a
24	chr1:180882681-180882731	HCM	heart:	n/a
25	chr1:180882681-180882731	NB4	blood:	n/a
26	chr1:180881163-180881213	H1-hESC	embryonic stem cell:	embryo
27	chr1:180881163-180881213	SK-N-SH	brain:	n/a
28	chr1:180882591-180882641	ProgFib	skin:	n/a
29	chr1:180882655-180882705	MCF10A-Er-Src	breast:	n/a
30	chr1:180882681-180882731	BJ	skin:	n/a
31	chr1:180881583-180881633	HCF	heart:	n/a
32	chr1:180881163-180881213	HEK293	kidney:	embryo
33	chr1:180881646-180881696	NT2-D1	testis:	n/a
34	chr1:180882287-180882337	PFSK-1	brain:	n/a
35	chr1:180882287-180882337	GM12892	blood:	n/a
36	chr1:180881088-180881138	HCF	heart:	n/a
37	chr1:180882591-180882641	AG09309	skin:	n/a
38	chr1:180881088-180881138	HAEpiC	amniotic membrane:	n/a
39	chr1:180882287-180882337	MCF-7	breast:	n/a
40	chr1:180882655-180882705	GM12892	blood:	n/a
41	chr1:180882655-180882705	T-47D	breast:	n/a
42	chr1:180882287-180882337	MCF10A-Er-Src	breast:	n/a
43	chr1:180881163-180881213	U87	brain:	n/a
44	chr1:180881480-180881530	NH-A	brain:	n/a
45	chr1:180881088-180881138	SKMC	muscle:	n/a
46	chr1:180881086-180881136	AG04450	lung:	fetal
47	chr1:180882655-180882705	GM12878	blood:	n/a
48	chr1:180881086-180881136	SK-N-MC	brain:	n/a
49	chr1:180882591-180882641	IMR90	lung:	fetal
50	chr1:180881583-180881633	A549	lung:	n/a

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:180879805..180882226-chr1:180894957..180896873,2	MCF-7	breast:
2	chr1:180882477..180885786-chr1:180922759..180925050,3	MCF-7	breast:
3	chr1:180874718..180876670-chr1:180880822..180883224,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KIAA1614-2	chr1:180882970-180883192	NONHSAT008271
2	lnc-KIAA1614-2	chr1:180882290-180882429	NONHSAT008271

No data

Variant related genes	Relation type
KIAA1614	TF binding region
KIAA1614	CpG island
ENSG00000225857	chromatin interactions
ENSG00000232586	chromatin interactions

Extended variants
information (count: 87 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:87 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs567141508	chr1:180880997-180880998	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs572206399	chr1:180881137-180881138	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs368682088	chr1:180881141-180881142	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs6672415	chr1:180881148-180881149	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs375871100	chr1:180881152-180881153	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs115197714	chr1:180881189-180881190	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs577662408	chr1:180881233-180881234	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs538645278	chr1:180881236-180881237	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs557081424	chr1:180881238-180881239	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs575291930	chr1:180881279-180881280	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs34858115	chr1:180881286-180881287	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs542785179	chr1:180881319-180881320	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs541008328	chr1:180881335-180881336	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs367631088	chr1:180881336-180881337	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs560958580	chr1:180881348-180881349	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs573015999	chr1:180881392-180881393	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs540090962	chr1:180881398-180881399	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs564845773	chr1:180881457-180881458	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs532363420	chr1:180881491-180881492	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs113982029	chr1:180881518-180881519	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs562979533	chr1:180881538-180881539	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs563437350	chr1:180881587-180881588	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs183837557	chr1:180881625-180881626	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs76736944	chr1:180881632-180881633	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs566922035	chr1:180881671-180881672	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs534404226	chr1:180881717-180881718	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs552860797	chr1:180881743-180881744	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs186955842	chr1:180881750-180881751	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs538634629	chr1:180881814-180881815	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs557023967	chr1:180881854-180881855	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs575282632	chr1:180882044-180882045	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs535932285	chr1:180882087-180882088	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs35417507	chr1:180882113-180882114	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs554652616	chr1:180882184-180882185	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs572910860	chr1:180882215-180882216	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs540078812	chr1:180882261-180882262	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs558427369	chr1:180882335-180882336	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
38	rs560914007	chr1:180882353-180882354	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
39	rs183675069	chr1:180882363-180882364	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
40	rs576757366	chr1:180882368-180882369	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
41	rs544186898	chr1:180882387-180882388	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
42	rs562707710	chr1:180882391-180882392	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
43	rs12756225	chr1:180882395-180882396	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
44	rs530132313	chr1:180882448-180882449	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs370532198	chr1:180882466-180882467	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs192713785	chr1:180882467-180882468	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs560642843	chr1:180882478-180882479	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs545935093	chr1:180882482-180882483	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs527875932	chr1:180882497-180882498	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs564134807	chr1:180882539-180882540	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:88)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	16750200	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Rett syndrome	21593744	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21829676	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Glioblastoma multiforme	17369134	CNVD
Cancer	17440070	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21611746	CNVD
Breast cancer	16397240	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	23248035	CNVD
Metanephric adenoma	20802469	CNVD
Renal cell carcinoma	18765545	CNVD
Nephroblastoma	17189400	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:409 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:180805800-180881000	Weak transcription	Aorta	Aorta
2	chr1:180868800-180881000	Weak transcription	Right Atrium	heart
3	chr1:180869600-180881000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:180877600-180881200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr1:180878400-180881000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr1:180878600-180881000	Weak transcription	Lung	lung
7	chr1:180879000-180881000	Enhancers	Fetal Heart	heart
8	chr1:180879200-180881800	Weak transcription	A549	lung
9	chr1:180879400-180881000	Enhancers	Left Ventricle	heart
10	chr1:180880000-180881000	Weak transcription	GM12878-XiMat	blood
11	chr1:180880000-180881200	Bivalent Enhancer	Fetal Thymus	thymus
12	chr1:180880200-180881000	Enhancers	Placenta	Placenta
13	chr1:180880400-180881000	Flanking Active TSS	Fetal Lung	lung
14	chr1:180880400-180881200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr1:180880400-180881200	Flanking Active TSS	Stomach Smooth Muscle	stomach
16	chr1:180880600-180881000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr1:180880600-180881000	Enhancers	Brain Hippocampus Middle	brain
18	chr1:180880600-180881000	Enhancers	Fetal Kidney	kidney
19	chr1:180880600-180881000	Enhancers	Pancreatic Islets	Pancreatic Islet
20	chr1:180880600-180881000	Bivalent Enhancer	Stomach Mucosa	stomach
21	chr1:180880600-180881000	Flanking Active TSS	NHDF-Ad	bronchial
22	chr1:180880600-180881200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr1:180880600-180881200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr1:180880600-180881200	Flanking Active TSS	Osteobl	bone
25	chr1:180880600-180881400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
26	chr1:180880800-180881000	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr1:180880800-180881000	Flanking Active TSS	H9 Cell Line	embryonic stem cell
28	chr1:180880800-180881000	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr1:180880800-180881000	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr1:180880800-180881000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr1:180880800-180881000	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
32	chr1:180880800-180881000	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
33	chr1:180880800-180881000	Flanking Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr1:180880800-180881000	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr1:180880800-180881000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr1:180880800-180881000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
37	chr1:180880800-180881000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr1:180880800-180881000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr1:180880800-180881000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr1:180880800-180881000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr1:180880800-180881000	Bivalent Enhancer	Liver	Liver
42	chr1:180880800-180881000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
43	chr1:180880800-180881000	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
44	chr1:180880800-180881000	Active TSS	Duodenum Smooth Muscle	Duodenum
45	chr1:180880800-180881000	Enhancers	Esophagus	oesophagus
46	chr1:180880800-180881000	Bivalent/Poised TSS	Fetal Intestine Large	intestine
47	chr1:180880800-180881000	Enhancers	Ovary	ovary
48	chr1:180880800-180881000	Enhancers	Pancreas	Pancrea
49	chr1:180880800-180881000	Flanking Active TSS	Placenta Amnion	Placenta Amnion
50	chr1:180880800-180881000	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 31	rectum

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