Variant report

Variant	esv3400925
Chromosome Location	chr12:106531722-106534570
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:338)
CpG islands
(count:856)
Chromatin interactive
region (count:23)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:338 , 50 per page) page: 1 2 3 4 5 6 7

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr12:106532463-106533433	H1-hESC	embryonic stem cell:	n/a	n/a
2	BCL3	chr12:106533186-106533937	A549	lung:	n/a	chr12:106533303-106533316 chr12:106533292-106533305
3	BRCA1	chr12:106533251-106533551	Hela-S3	cervix:	n/a	n/a
4	CEBPB	chr12:106533232-106533533	Hela-S3	cervix:	n/a	n/a
5	CEBPD	chr12:106532651-106532946	HepG2	liver:	n/a	n/a
6	CHD1	chr12:106532442-106532797	H1-hESC	embryonic stem cell:	n/a	chr12:106532671-106532681 chr12:106532442-106532452
7	CHD1	chr12:106533106-106533785	H1-hESC	embryonic stem cell:	n/a	chr12:106533634-106533641
8	CHD2	chr12:106532376-106533549	Hela-S3	cervix:	n/a	chr12:106532671-106532681 chr12:106532442-106532452
9	CHD2	chr12:106532478-106533510	HepG2	liver:	n/a	chr12:106532671-106532681
10	CHD2	chr12:106532696-106533511	H1-hESC	embryonic stem cell:	n/a	n/a
11	CREB1	chr12:106532446-106533495	A549	lung:	n/a	n/a
12	CREB1	chr12:106532329-106533606	HepG2	liver:	n/a	n/a
13	CTBP2	chr12:106532156-106533909	H1-hESC	embryonic stem cell:	n/a	n/a
14	CTCF	chr12:106534240-106534390	A549	lung:	n/a	n/a
15	CTCF	chr12:106533080-106533230	AoAF	blood vessel:	n/a	n/a
16	CTCF	chr12:106533160-106533310	HCM	heart:	n/a	n/a
17	CTCF	chr12:106532100-106532250	HCM	heart:	n/a	n/a
18	CTCF	chr12:106532060-106532210	AG04449	skin:	n/a	n/a
19	CTCF	chr12:106531640-106531790	HRE	kidney:	n/a	n/a
20	CTCF	chr12:106531640-106531790	HBMEC	blood vessel:	n/a	n/a
21	CTCF	chr12:106533680-106533830	AG09319	gingival:	n/a	n/a
22	CTCF	chr12:106533220-106533370	WERI-Rb-1	eye:	n/a	n/a
23	CTCF	chr12:106533220-106533370	SK-N-SH_RA	brain:	n/a	n/a
24	CTCF	chr12:106533280-106533430	AG04449	skin:	n/a	n/a
25	CTCF	chr12:106532620-106532770	GM12865	blood:	n/a	n/a
26	CTCF	chr12:106533200-106533350	HMEC	breast:	n/a	n/a
27	CTCF	chr12:106533300-106533450	HCPEpiC	choroid plexus:	n/a	n/a
28	CTCF	chr12:106532518-106532588	MCF-7	breast:	n/a	n/a
29	CTCF	chr12:106533260-106533410	HRE	kidney:	n/a	n/a
30	CTCF	chr12:106533460-106533610	A549	lung:	n/a	n/a
31	CTCF	chr12:106533200-106533350	AG09319	gingival:	n/a	n/a
32	CTCF	chr12:106531600-106531850	NHEK	skin:	n/a	n/a
33	CTCF	chr12:106533220-106533370	HPF	lung:	n/a	n/a
34	CTCF	chr12:106533360-106533510	BJ	skin:	n/a	n/a
35	CTCF	chr12:106532940-106533090	HEK293	kidney:	n/a	n/a
36	CTCF	chr12:106532500-106532650	GM06990	blood:	n/a	n/a
37	CTCF	chr12:106533240-106533390	SK-N-SH_RA	brain:	n/a	n/a
38	CTCF	chr12:106531540-106531830	HCPEpiC	choroid plexus:	n/a	n/a
39	CTCF	chr12:106532380-106532530	SK-N-SH_RA	brain:	n/a	n/a
40	CTCF	chr12:106533280-106533430	HBMEC	blood vessel:	n/a	n/a
41	CTCF	chr12:106532420-106532570	NHEK	skin:	n/a	n/a
42	CTCF	chr12:106532972-106532991	LNCaP	prostate:	n/a	n/a
43	CTCF	chr12:106532400-106532550	AG04449	skin:	n/a	n/a
44	CTCF	chr12:106533136-106533306	HepG2	liver:	n/a	n/a
45	CTCF	chr12:106532500-106532650	HMEC	breast:	n/a	n/a
46	CTCF	chr12:106533260-106533410	NHDF-neo	bronchial:	n/a	n/a
47	CTCF	chr12:106534100-106534250	AG04449	skin:	n/a	n/a
48	CTCF	chr12:106532420-106532570	HepG2	liver:	n/a	n/a
49	CTCF	chr12:106534320-106534470	HAc	cerebellar:	n/a	n/a
50	CTCF	chr12:106532500-106532650	SAEC	small airway:	n/a	n/a

(count:856 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:106532701-106532751	HL-60	blood:	n/a
2	chr12:106534217-106534267	GM06990	blood:	n/a
3	chr12:106532701-106532751	HL-60	blood:	n/a
4	chr12:106534217-106534267	GM06990	blood:	n/a
5	chr12:106532491-106532541	HCF	heart:	n/a
6	chr12:106532491-106532541	ECC-1	luminal epithelium:	n/a
7	chr12:106533046-106533096	HepG2	liver:	n/a
8	chr12:106534217-106534267	CMK	blood:	n/a
9	chr12:106533840-106533890	HPAEpiC	pulmonary alveolar:	n/a
10	chr12:106533898-106533948	AG09309	skin:	n/a
11	chr12:106533863-106533913	HPAEpiC	pulmonary alveolar:	n/a
12	chr12:106533898-106533948	HIPEpiC	eye:	n/a
13	chr12:106532701-106532751	AoSMC	blood vessel:	n/a
14	chr12:106532212-106532262	PANC-1	pancreas:	n/a
15	chr12:106533867-106533917	GM12878	blood:	n/a
16	chr12:106532701-106532751	ovcar-3	ovarian:	n/a
17	chr12:106532311-106532361	AoSMC	blood vessel:	n/a
18	chr12:106533903-106533953	AG09319	gingival:	n/a
19	chr12:106532491-106532541	HRCEpiC	kidney:	n/a
20	chr12:106534217-106534267	HMEC	breast:	n/a
21	chr12:106533046-106533096	MCF10A-Er-Src	breast:	n/a
22	chr12:106533898-106533948	HAEpiC	amniotic membrane:	n/a
23	chr12:106533375-106533425	H1-hESC	embryonic stem cell:	embryo
24	chr12:106532701-106532751	BJ	skin:	n/a
25	chr12:106532701-106532751	HRE	kidney:	n/a
26	chr12:106533898-106533948	AG09319	gingival:	n/a
27	chr12:106534217-106534267	NB4	blood:	n/a
28	chr12:106532311-106532361	AG09319	gingival:	n/a
29	chr12:106533898-106533948	ProgFib	skin:	n/a
30	chr12:106534217-106534267	BJ	skin:	n/a
31	chr12:106533375-106533425	K562	blood:	n/a
32	chr12:106533046-106533096	Jurkat	blood:	n/a
33	chr12:106533903-106533953	Jurkat	blood:	n/a
34	chr12:106533863-106533913	ovcar-3	ovarian:	n/a
35	chr12:106532491-106532541	PrEC	prostate:	n/a
36	chr12:106533903-106533953	HRCEpiC	kidney:	n/a
37	chr12:106533375-106533425	MCF-7	breast:	n/a
38	chr12:106533867-106533917	GM12891	blood:	n/a
39	chr12:106533046-106533096	HRCEpiC	kidney:	n/a
40	chr12:106534217-106534267	HRCEpiC	kidney:	n/a
41	chr12:106533903-106533953	HepG2	liver:	n/a
42	chr12:106533046-106533096	AG04450	lung:	fetal
43	chr12:106533903-106533953	SK-N-SH_RA	brain:	n/a
44	chr12:106534217-106534267	AoSMC	blood vessel:	n/a
45	chr12:106533840-106533890	BE2_C	brain:	n/a
46	chr12:106534276-106534326	AoSMC	blood vessel:	n/a
47	chr12:106533375-106533425	BE2_C	brain:	n/a
48	chr12:106532212-106532262	SK-N-SH	brain:	n/a
49	chr12:106532311-106532361	AG10803	skin:	n/a
50	chr12:106533903-106533953	GM12892	blood:	n/a

(count:23 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:106530538..106533489-chr21:45720993..45722584,2	MCF-7	breast:
2	chr12:106378534..106380101-chr12:106531671..106533641,2	MCF-7	breast:
3	chr12:106417953..106419707-chr12:106531100..106533719,2	MCF-7	breast:
4	chr12:106105066..106107920-chr12:106531148..106533033,2	MCF-7	breast:
5	chr12:106531262..106533679-chr12:106543496..106547207,3	MCF-7	breast:
6	chr12:106322581..106324128-chr12:106531603..106533720,2	MCF-7	breast:
7	chr12:105878812..105881754-chr12:106532109..106533760,2	MCF-7	breast:
8	chr12:106260796..106262359-chr12:106530487..106533062,2	MCF-7	breast:
9	chr12:106534451..106537070-chr12:106581248..106583700,2	MCF-7	breast:
10	chr12:106531582..106534564-chr12:106638638..106642825,4	MCF-7	breast:
11	chr12:106529953..106533456-chr12:106589507..106592473,3	MCF-7	breast:
12	chr12:106501658..106504096-chr12:106533862..106535852,2	MCF-7	breast:
13	chr12:105848600..105850888-chr12:106533962..106536336,2	MCF-7	breast:
14	chr12:106533049..106533686-chr19:42721299..42721921,2	HCT-116	colon:
15	chr12:106492655..106494743-chr12:106531247..106533400,2	MCF-7	breast:
16	chr12:106530740..106533315-chr17:57922492..57924667,2	MCF-7	breast:
17	chr12:106532785..106534884-chr12:106750299..106753050,2	MCF-7	breast:
18	chr12:106531533..106535020-chr12:106751427..106753733,3	MCF-7	breast:
19	chr12:89746855..89748996-chr12:106530986..106533186,2	MCF-7	breast:
20	chr12:106439470..106441624-chr12:106531881..106533487,2	MCF-7	breast:
21	chr12:105946907..105949767-chr12:106531210..106533511,2	MCF-7	breast:
22	chr12:105813159..105815019-chr12:106530555..106533790,3	MCF-7	breast:
23	chr12:106256670..106259118-chr12:106531259..106533128,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TCP11L2-4	chr12:106533813-106535694	NONHSAT030466

No data

Variant related genes	Relation type
NUAK1	TF binding region
NUAK1	CpG island
ENSG00000013503	chromatin interactions
ENSG00000139318	chromatin interactions
ENSG00000136026	chromatin interactions
ENSG00000160570	chromatin interactions
ENSG00000258355	chromatin interactions

Extended variants
information (count: 100 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:100 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs527693353	chr12:106531731-106531732	Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs544594036	chr12:106531748-106531749	Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs564856154	chr12:106531783-106531784	Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs74920768	chr12:106531805-106531806	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs12296698	chr12:106531857-106531858	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs118131877	chr12:106531989-106531990	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs529491498	chr12:106532018-106532019	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs570772951	chr12:106532071-106532072	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs1215597	chr12:106532072-106532073	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs566368930	chr12:106532142-106532143	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs199771928	chr12:106532157-106532158	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs551791538	chr12:106532160-106532161	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs55663911	chr12:106532280-106532281	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs373464676	chr12:106532315-106532316	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs374968016	chr12:106532333-106532334	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs3741887	chr12:106532342-106532343	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs537066624	chr12:106532362-106532363	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs369767838	chr12:106532367-106532368	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs372287958	chr12:106532369-106532370	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs375088646	chr12:106532377-106532378	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs56070751	chr12:106532393-106532394	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs201298691	chr12:106532400-106532401	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs568710120	chr12:106532410-106532411	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs55928990	chr12:106532417-106532418	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs56402800	chr12:106532425-106532426	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs369809579	chr12:106532446-106532447	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs201732252	chr12:106532455-106532456	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs552787653	chr12:106532475-106532476	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs368420634	chr12:106532574-106532575	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs572709221	chr12:106532592-106532593	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs546034790	chr12:106532641-106532642	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs545239932	chr12:106532674-106532675	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs558597231	chr12:106532684-106532685	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs543897268	chr12:106532783-106532784	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs560964938	chr12:106532821-106532822	Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs529857495	chr12:106532893-106532894	Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs12312153	chr12:106532904-106532905	Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs559940660	chr12:106532920-106532921	Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs372368812	chr12:106532924-106532925	Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs528718554	chr12:106532956-106532957	Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs533259767	chr12:106532974-106532975	Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs552016621	chr12:106532975-106532976	Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs551638549	chr12:106532977-106532978	Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs569882924	chr12:106532983-106532984	Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs530696525	chr12:106532985-106532986	Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs530912174	chr12:106532995-106532996	Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs550744510	chr12:106533078-106533079	Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
48	rs374083384	chr12:106533133-106533134	Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
49	rs536305480	chr12:106533212-106533213	Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs546690690	chr12:106533246-106533247	Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:66)

Disease	PMID	Source
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Lung cancer	18438408	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Breast cancer	22032731	CNVD
Cancer	16751803	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
Wilms tumour	21544195	CNVD
Ovarian cancer	21720365	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17603634	CNVD
Breast cancer	16397240	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	17133270	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Neurocytoma	17123091	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21364760	CNVD
Multiple myeloma	16616336	CNVD
Myelofibrosis	22110671	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:383 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:106504800-106532400	Weak transcription	Spleen	Spleen
2	chr12:106528600-106534200	Active TSS	Fetal Brain Female	brain
3	chr12:106528800-106532400	Flanking Active TSS	Adipose Nuclei	Adipose
4	chr12:106529000-106532600	Flanking Active TSS	Stomach Smooth Muscle	stomach
5	chr12:106529200-106534200	Active TSS	Right Ventricle	heart
6	chr12:106529200-106534600	Active TSS	Aorta	Aorta
7	chr12:106529200-106535000	Active TSS	Left Ventricle	heart
8	chr12:106529400-106534000	Active TSS	Ovary	ovary
9	chr12:106529600-106531800	Flanking Active TSS	HMEC	breast
10	chr12:106529600-106532000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr12:106529600-106532000	Flanking Active TSS	NHEK	skin
12	chr12:106529600-106533800	Active TSS	HSMM	muscle
13	chr12:106529600-106535000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr12:106529800-106531800	Enhancers	Placenta Amnion	Placenta Amnion
15	chr12:106529800-106533600	Active TSS	Brain Inferior Temporal Lobe	brain
16	chr12:106530000-106532200	Active TSS	Fetal Brain Male	brain
17	chr12:106530000-106534800	Active TSS	ES-I3 Cell Line	embryonic stem cell
18	chr12:106530000-106534800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr12:106530200-106532600	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
20	chr12:106530200-106533400	Active TSS	Lung	lung
21	chr12:106530400-106534000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr12:106530400-106534000	Active TSS	HSMMtube	muscle
23	chr12:106530600-106531800	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
24	chr12:106530600-106533800	Active TSS	Brain Anterior Caudate	brain
25	chr12:106530600-106533800	Active TSS	Brain Cingulate Gyrus	brain
26	chr12:106530600-106534000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
27	chr12:106530600-106534000	Active TSS	Colon Smooth Muscle	Colon
28	chr12:106530600-106534000	Active TSS	Psoas Muscle	Psoas
29	chr12:106530600-106534400	Active TSS	NHDF-Ad	bronchial
30	chr12:106530600-106534600	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
31	chr12:106530800-106532000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
32	chr12:106530800-106532000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
33	chr12:106530800-106534000	Active TSS	Brain Hippocampus Middle	brain
34	chr12:106530800-106534200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr12:106530800-106534200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr12:106530800-106535600	Active TSS	Pancreatic Islets	Pancreatic Islet
37	chr12:106531000-106532000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
38	chr12:106531000-106532400	Flanking Active TSS	Liver	Liver
39	chr12:106531200-106531800	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
40	chr12:106531200-106531800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
41	chr12:106531200-106531800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
42	chr12:106531200-106531800	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr12:106531200-106531800	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr12:106531200-106531800	Flanking Bivalent TSS/Enh	HepG2	liver
45	chr12:106531200-106531800	Flanking Active TSS	NHLF	lung
46	chr12:106531200-106532000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr12:106531200-106532000	Flanking Active TSS	Fetal Lung	lung
48	chr12:106531200-106532000	Flanking Active TSS	Osteobl	bone
49	chr12:106531200-106532200	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
50	chr12:106531200-106532200	Bivalent/Poised TSS	Esophagus	oesophagus

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