Variant report

Variant	rs2002906
Chromosome Location	chr11:71238205-71238206
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOSL2	chr11:71237836-71238466	HepG2	liver:	n/a	chr11:71237880-71237887
2	FOXA1	chr11:71237941-71238236	T-47D	breast:	n/a	chr11:71238119-71238131
3	POLR2A	chr11:71238187-71238955	HepG2	liver:	n/a	n/a
4	FOXA1	chr11:71237857-71238360	HepG2	liver:	n/a	chr11:71238119-71238131
5	RXRA	chr11:71237928-71238354	HepG2	liver:	n/a	chr11:71238007-71238027
6	MYBL2	chr11:71237764-71238252	HepG2	liver:	n/a	n/a
7	FOXA2	chr11:71237941-71238263	HepG2	liver:	n/a	chr11:71238119-71238131
8	FOXA1	chr11:71237920-71238220	T-47D	breast:	n/a	chr11:71238119-71238131
9	MAX	chr11:71237725-71238410	HepG2	liver:	n/a	chr11:71237970-71237980 chr11:71237968-71237983 chr11:71237969-71237980 chr11:71237971-71237978 chr11:71237968-71237981 chr11:71237970-71237979
10	FOXA2	chr11:71237691-71238410	HepG2	liver:	n/a	chr11:71238119-71238131
11	HEY1	chr11:71237812-71240636	HepG2	liver:	n/a	n/a
12	EP300	chr11:71237963-71238240	HepG2	liver:	n/a	chr11:71238171-71238185 chr11:71238154-71238163
13	FOXA1	chr11:71237861-71238327	HepG2	liver:	n/a	chr11:71238119-71238131
14	POLR2A	chr11:71238130-71238537	HepG2	liver:	n/a	n/a
15	SP1	chr11:71237924-71238445	HepG2	liver:	n/a	chr11:71237982-71238003
16	FOXA1	chr11:71237814-71238443	HepG2	liver:	n/a	chr11:71238119-71238131
17	FOXA1	chr11:71237835-71238350	HepG2	liver:	n/a	chr11:71238119-71238131

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:71238205-71238255	A549	lung:	n/a
2	chr11:71238205-71238255	SKMC	muscle:	n/a
3	chr11:71238205-71238255	HEEpiC	esophagus:	n/a
4	chr11:71238205-71238255	IMR90	lung:	fetal
5	chr11:71238205-71238255	NHBE	bronchial:	n/a
6	chr11:71238205-71238255	AG09309	skin:	n/a
7	chr11:71238205-71238255	MCF-7	breast:	n/a
8	chr11:71238205-71238255	Hela-S3	cervix:	n/a
9	chr11:71238205-71238255	GM19239	blood:	n/a
10	chr11:71238205-71238255	HIPEpiC	eye:	n/a
11	chr11:71238205-71238255	Hepatocyte	liver:	n/a
12	chr11:71238205-71238255	HMEC	breast:	n/a
13	chr11:71238205-71238255	AoSMC	blood vessel:	n/a
14	chr11:71238205-71238255	SK-N-MC	brain:	n/a
15	chr11:71238205-71238255	HPAEpiC	pulmonary alveolar:	n/a
16	chr11:71238205-71238255	ProgFib	skin:	n/a
17	chr11:71238205-71238255	Jurkat	blood:	n/a
18	chr11:71238205-71238255	AG10803	skin:	n/a
19	chr11:71238205-71238255	GM12891	blood:	n/a
20	chr11:71238205-71238255	Caco-2	colon:	n/a
21	chr11:71238205-71238255	NB4	blood:	n/a
22	chr11:71238205-71238255	AG04450	lung:	fetal
23	chr11:71238205-71238255	GM12878	blood:	n/a
24	chr11:71238205-71238255	H1-hESC	embryonic stem cell:	embryo
25	chr11:71238205-71238255	HCM	heart:	n/a
26	chr11:71238205-71238255	GM12892	blood:	n/a
27	chr11:71238205-71238255	AG04449	skin:	fetal
28	chr11:71238205-71238255	HRPEpiC	eye:	n/a
29	chr11:71238205-71238255	HepG2	liver:	n/a
30	chr11:71238205-71238255	NT2-D1	testis:	n/a
31	chr11:71238205-71238255	HCT-116	colon:	n/a
32	chr11:71238205-71238255	ovcar-3	ovarian:	n/a
33	chr11:71238205-71238255	HCF	heart:	n/a
34	chr11:71238205-71238255	PFSK-1	brain:	n/a
35	chr11:71238205-71238255	SK-N-SH_RA	brain:	n/a
36	chr11:71238205-71238255	HRCEpiC	kidney:	n/a
37	chr11:71238205-71238255	K562	blood:	n/a
38	chr11:71238205-71238255	HCPEpiC	choroid plexus:	n/a
39	chr11:71238205-71238255	HL-60	blood:	n/a
40	chr11:71238205-71238255	HEK293	kidney:	embryo
41	chr11:71238205-71238255	RPTEC	kidney:	n/a
42	chr11:71238205-71238255	SK-N-SH	brain:	n/a
43	chr11:71238205-71238255	HRE	kidney:	n/a
44	chr11:71238205-71238255	NH-A	brain:	n/a
45	chr11:71238205-71238255	HAEpiC	amniotic membrane:	n/a
46	chr11:71238205-71238255	PANC-1	pancreas:	n/a
47	chr11:71238205-71238255	LNCaP	prostate:	n/a
48	chr11:71238205-71238255	ECC-1	luminal epithelium:	n/a
49	chr11:71238205-71238255	MCF10A-Er-Src	breast:	n/a
50	chr11:71238205-71238255	PrEC	prostate:	n/a

Variant related genes	Relation type
KRTAP5-7	TF binding region
KRTAP5-7	CpG island

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10751102	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs10792743	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11233555	0.82[CHB][hapmap]
rs11608138	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs12281481	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1626291	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes]
rs1790334	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.90[ASN][1000 genomes]
rs1790346	1.00[CHB][hapmap];0.90[JPT][hapmap];0.85[ASN][1000 genomes]
rs1790351	1.00[CHB][hapmap];0.90[JPT][hapmap];0.84[ASN][1000 genomes]
rs1790373	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.90[YRI][hapmap];0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1792273	1.00[CHB][hapmap]
rs1792276	0.84[ASN][1000 genomes]
rs1792316	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1792319	0.92[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2155425	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2186773	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2186778	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2276353	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2276354	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2282617	0.82[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2282618	0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2282619	1.00[JPT][hapmap];0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2298772	0.98[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2851693	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.90[ASN][1000 genomes]
rs3763859	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs3763860	0.90[JPT][hapmap];0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs3794065	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.98[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs3794066	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs3794067	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs3814731	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs3814734	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4944063	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4944064	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4944075	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4944080	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4944997	1.00[CEU][hapmap]
rs4944999	0.87[ASN][1000 genomes]
rs4945001	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4945007	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4945013	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6592154	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs6592180	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7113783	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7123973	0.97[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7129099	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs751389	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7690	0.85[ASN][1000 genomes]
rs7926054	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7950584	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs949176	0.85[ASN][1000 genomes]
rs949177	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.90[ASN][1000 genomes]
rs949178	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530623	chr11:71088949-72020418	Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	134 gene(s)	inside rSNPs	diseases
2	nsv468632	chr11:71200320-71289089	Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv555402	chr11:71200320-71289089	Strong transcription Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	esv3372246	chr11:71223101-71435819	Strong transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv897900	chr11:71234107-71276909	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
6	nsv897899	chr11:71234107-71277981	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
7	esv3363568	chr11:71237277-71275754	Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
8	esv3425891	chr11:71237287-71275790	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
9	esv3528100	chr11:71237332-71275725	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
10	esv3528101	chr11:71237332-71275725	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
11	esv3432021	chr11:71237346-71275760	ZNF genes & repeats Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:71232800-71243600	Weak transcription	Brain Angular Gyrus	brain
2	chr11:71232800-71245800	Weak transcription	Pancreas	Pancrea
3	chr11:71232800-71259800	Weak transcription	Brain Cingulate Gyrus	brain
4	chr11:71236200-71239200	Enhancers	Liver	Liver
5	chr11:71237200-71238800	Enhancers	Fetal Intestine Large	intestine
6	chr11:71238200-71238600	Active TSS	HepG2	liver

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