Variant report

Variant	rs11119786
Chromosome Location	chr1:211817122-211817123
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	ELK1	chr1:211816721-211817199	Hela-S3	cervix:	n/a	n/a
2	FOS	chr1:211816805-211817290	MCF10A-Er-Src	breast:	n/a	n/a
3	RCOR1	chr1:211816693-211817600	Hela-S3	cervix:	n/a	n/a
4	NFIC	chr1:211816869-211817647	ECC-1	luminal epithelium:	n/a	n/a
5	TCF7L2	chr1:211816461-211817510	PANC-1	pancreas:	n/a	chr1:211817379-211817389 chr1:211816835-211816851 chr1:211816835-211816851 chr1:211816839-211816848
6	HDAC2	chr1:211816525-211817537	HepG2	liver:	n/a	chr1:211816752-211816760 chr1:211817165-211817184
7	EP300	chr1:211816493-211817563	HepG2	liver:	n/a	chr1:211817303-211817313 chr1:211817067-211817083
8	POLR2A	chr1:211816705-211817345	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr1:211816733-211817510	Hela-S3	cervix:	n/a	n/a
10	USF2	chr1:211816938-211817552	Hela-S3	cervix:	n/a	n/a
11	TCF7L2	chr1:211816599-211817766	Hela-S3	cervix:	n/a	chr1:211817379-211817389 chr1:211816835-211816851 chr1:211816835-211816851 chr1:211816839-211816848
12	MYC	chr1:211816960-211817211	MCF-7	breast:	n/a	n/a
13	POLR2A	chr1:211815491-211817685	Hela-S3	cervix:	n/a	n/a
14	RAD21	chr1:211816862-211817530	Hela-S3	cervix:	n/a	n/a
15	STAT1	chr1:211816244-211817683	Hela-S3	cervix:	n/a	chr1:211817011-211817023 chr1:211817319-211817327 chr1:211817317-211817328 chr1:211817577-211817588
16	BRCA1	chr1:211817084-211817649	Hela-S3	cervix:	n/a	n/a
17	TCF12	chr1:211817004-211817586	A549	lung:	n/a	n/a
18	FOXA1	chr1:211817075-211817556	HepG2	liver:	n/a	n/a
19	POLR2A	chr1:211816536-211817487	HepG2	liver:	n/a	n/a
20	SMC3	chr1:211816739-211817582	Hela-S3	cervix:	n/a	chr1:211817532-211817546
21	MAX	chr1:211816548-211817462	A549	lung:	n/a	chr1:211816943-211816952
22	TAF1	chr1:211816890-211817217	Hela-S3	cervix:	n/a	n/a
23	FOS	chr1:211816884-211817303	MCF10A-Er-Src	breast:	n/a	chr1:211817288-211817297
24	STAT3	chr1:211816764-211817497	MCF10A-Er-Src	breast:	n/a	chr1:211817011-211817023 chr1:211817319-211817327 chr1:211817317-211817328
25	NFIC	chr1:211816943-211817536	SK-N-SH	brain:	n/a	n/a
26	CHD2	chr1:211816797-211817575	Hela-S3	cervix:	n/a	n/a
27	HDAC2	chr1:211816945-211817607	MCF-7	breast:	n/a	chr1:211817165-211817184
28	MAX	chr1:211816621-211817674	Hela-S3	cervix:	n/a	chr1:211816943-211816952
29	TCF7L2	chr1:211816593-211817535	HCT-116	colon:	n/a	chr1:211817379-211817389 chr1:211816835-211816851 chr1:211816835-211816851 chr1:211816839-211816848
30	TBP	chr1:211816785-211817575	Hela-S3	cervix:	n/a	n/a
31	MXI1	chr1:211816622-211817485	HepG2	liver:	n/a	n/a
32	MYC	chr1:211816792-211817758	MCF10A-Er-Src	breast:	n/a	chr1:211816943-211816952
33	ZNF143	chr1:211816827-211817457	Hela-S3	cervix:	n/a	n/a
34	MAFK	chr1:211816606-211817654	Hela-S3	cervix:	n/a	n/a
35	POLR2A	chr1:211816584-211817508	PANC-1	pancreas:	n/a	n/a
36	FOXA1	chr1:211816462-211817492	HepG2	liver:	n/a	n/a
37	MXI1	chr1:211816713-211817810	SK-N-SH	brain:	n/a	n/a
38	FOXA1	chr1:211816899-211817482	T-47D	breast:	n/a	n/a
39	MAX	chr1:211816912-211817391	MCF-7	breast:	n/a	chr1:211816943-211816952
40	NFIC	chr1:211816719-211817754	SK-N-SH	brain:	n/a	n/a
41	FOXA2	chr1:211816961-211817600	A549	lung:	n/a	n/a
42	FOXA1	chr1:211816576-211817582	HepG2	liver:	n/a	n/a
43	FOXA1	chr1:211817096-211817455	T-47D	breast:	n/a	n/a
44	TCF7L2	chr1:211816444-211817131	HepG2	liver:	n/a	chr1:211816835-211816851 chr1:211816835-211816851 chr1:211816839-211816848
45	POLR2A	chr1:211816738-211817256	Hela-S3	cervix:	n/a	n/a
46	EP300	chr1:211816628-211817341	HepG2	liver:	n/a	chr1:211817303-211817313 chr1:211817067-211817083
47	GTF2F1	chr1:211816732-211817530	Hela-S3	cervix:	n/a	n/a
48	NFIC	chr1:211816916-211817590	ECC-1	luminal epithelium:	n/a	n/a
49	MAX	chr1:211816966-211817650	K562	blood:	n/a	n/a
50	NFIC	chr1:211816531-211817452	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:211816612..211818942-chr1:211819387..211821012,2	MCF-7	breast:
2	chr1:211750794..211754252-chr1:211815868..211819773,4	MCF-7	breast:
3	chr1:211749200..211754595-chr1:211816014..211824648,8	K562	blood:

Variant related genes	Relation type
ENSG00000228792	TF binding region
ENSG00000170385	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10158305	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10158307	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10158309	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10158749	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10158790	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10158874	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10159253	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10779564	0.86[CEU][hapmap];0.85[JPT][hapmap];0.80[EUR][1000 genomes]
rs10779565	0.81[EUR][1000 genomes]
rs10779566	0.81[EUR][1000 genomes]
rs10863919	0.81[EUR][1000 genomes]
rs10863920	0.83[EUR][1000 genomes]
rs11119780	0.80[EUR][1000 genomes]
rs11119783	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11119785	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11119787	0.85[EUR][1000 genomes]
rs11576789	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11577255	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12123429	0.80[CEU][hapmap];0.97[YRI][hapmap];0.96[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs12142250	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12727505	0.85[EUR][1000 genomes]
rs12734494	0.87[ASN][1000 genomes]
rs12741252	0.83[CEU][hapmap];0.85[EUR][1000 genomes]
rs12744873	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12758005	1.00[CEU][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1373293	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34451435	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35531215	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4245741	0.83[EUR][1000 genomes]
rs61851777	0.80[EUR][1000 genomes]
rs6540698	0.80[EUR][1000 genomes]
rs6667179	0.82[JPT][hapmap]
rs6669878	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6670986	0.81[EUR][1000 genomes]
rs6671497	0.81[EUR][1000 genomes]
rs6693364	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7525247	0.82[JPT][hapmap]
rs7551699	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs894853	0.80[EUR][1000 genomes]
rs894854	0.80[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010919	chr1:211804252-211823073	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:211807200-211817200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr1:211811400-211829600	Enhancers	Fetal Intestine Small	intestine
3	chr1:211811600-211828200	Enhancers	Fetal Intestine Large	intestine
4	chr1:211813600-211817200	Weak transcription	HSMM	muscle
5	chr1:211813600-211821600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr1:211813800-211822600	Weak transcription	NHDF-Ad	bronchial
7	chr1:211814600-211818600	Flanking Active TSS	Hela-S3	cervix
8	chr1:211816000-211817400	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr1:211816000-211817600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
10	chr1:211816000-211818000	Enhancers	Fetal Thymus	thymus
11	chr1:211816000-211818400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr1:211816200-211817400	Enhancers	Lung	lung
13	chr1:211816200-211817600	Enhancers	Brain Hippocampus Middle	brain
14	chr1:211816200-211817600	Enhancers	Fetal Muscle Leg	muscle
15	chr1:211816200-211817600	Enhancers	Ovary	ovary
16	chr1:211816200-211817600	Enhancers	Pancreas	Pancrea
17	chr1:211816200-211817600	Enhancers	Stomach Mucosa	stomach
18	chr1:211816200-211817800	Flanking Active TSS	HepG2	liver
19	chr1:211816200-211818600	Enhancers	Duodenum Mucosa	Duodenum
20	chr1:211816200-211819400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr1:211816400-211817200	Enhancers	Skeletal Muscle Male	skeletal muscle
22	chr1:211816400-211817400	Enhancers	Fetal Heart	heart
23	chr1:211816400-211817600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr1:211816400-211817600	Enhancers	Gastric	stomach
25	chr1:211816400-211817600	Enhancers	Spleen	Spleen
26	chr1:211816400-211817600	Enhancers	NH-A	brain
27	chr1:211816400-211817800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr1:211816400-211817800	Enhancers	HMEC	breast
29	chr1:211816400-211817800	Enhancers	K562	blood
30	chr1:211816600-211817200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr1:211816600-211817200	Enhancers	Primary T cells from cord blood	blood
32	chr1:211816600-211817400	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr1:211816600-211817400	Enhancers	Brain Angular Gyrus	brain
34	chr1:211816600-211817400	Enhancers	Fetal Lung	lung
35	chr1:211816600-211817400	Enhancers	Fetal Muscle Trunk	muscle
36	chr1:211816600-211817400	Enhancers	Left Ventricle	heart
37	chr1:211816600-211817600	Enhancers	Primary T cells fromperipheralblood	blood
38	chr1:211816600-211817600	Enhancers	Primary T helper cells PMA-I stimulated	--
39	chr1:211816600-211817600	Enhancers	Primary T helper cells fromperipheralblood	blood
40	chr1:211816600-211817600	Enhancers	Muscle Satellite Cultured Cells	--
41	chr1:211816600-211817600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr1:211816600-211817600	Enhancers	Esophagus	oesophagus
43	chr1:211816600-211817600	Enhancers	Placenta	Placenta
44	chr1:211816600-211817600	Enhancers	Right Atrium	heart
45	chr1:211816600-211817600	Enhancers	Skeletal Muscle Female	skeletal muscle
46	chr1:211816600-211817800	Enhancers	Right Ventricle	heart
47	chr1:211816600-211818400	Enhancers	Adipose Nuclei	Adipose
48	chr1:211816600-211818800	Enhancers	Liver	Liver
49	chr1:211816800-211817200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr1:211816800-211817200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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