Variant report

Variant	rs11119785
Chromosome Location	chr1:211816995-211816996
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	YY1	chr1:211816553-211817015	HepG2	liver:	n/a	n/a
9	POLR2A	chr1:211816705-211817345	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr1:211816733-211817510	Hela-S3	cervix:	n/a	n/a
11	TCF12	chr1:211816575-211817010	HepG2	liver:	n/a	n/a
12	BHLHE40	chr1:211816556-211817005	HepG2	liver:	n/a	n/a
13	USF2	chr1:211816938-211817552	Hela-S3	cervix:	n/a	n/a
14	TCF7L2	chr1:211816599-211817766	Hela-S3	cervix:	n/a	chr1:211817379-211817389 chr1:211816835-211816851 chr1:211816835-211816851 chr1:211816839-211816848
15	CEBPD	chr1:211816616-211817030	HepG2	liver:	n/a	n/a
16	MYC	chr1:211816960-211817211	MCF-7	breast:	n/a	n/a
17	REST	chr1:211816523-211817047	HepG2	liver:	n/a	chr1:211816967-211816981
18	POLR2A	chr1:211815491-211817685	Hela-S3	cervix:	n/a	n/a
19	RAD21	chr1:211816862-211817530	Hela-S3	cervix:	n/a	n/a
20	MYBL2	chr1:211816402-211817054	HepG2	liver:	n/a	n/a
21	STAT1	chr1:211816244-211817683	Hela-S3	cervix:	n/a	chr1:211817011-211817023 chr1:211817319-211817327 chr1:211817317-211817328 chr1:211817577-211817588
22	POLR2A	chr1:211816536-211817487	HepG2	liver:	n/a	n/a
23	SMC3	chr1:211816739-211817582	Hela-S3	cervix:	n/a	chr1:211817532-211817546
24	MAX	chr1:211816548-211817462	A549	lung:	n/a	chr1:211816943-211816952
25	TAF1	chr1:211816890-211817217	Hela-S3	cervix:	n/a	n/a
26	FOS	chr1:211816884-211817303	MCF10A-Er-Src	breast:	n/a	chr1:211817288-211817297
27	STAT3	chr1:211816764-211817497	MCF10A-Er-Src	breast:	n/a	chr1:211817011-211817023 chr1:211817319-211817327 chr1:211817317-211817328
28	NFIC	chr1:211816943-211817536	SK-N-SH	brain:	n/a	n/a
29	CHD2	chr1:211816797-211817575	Hela-S3	cervix:	n/a	n/a
30	HDAC2	chr1:211816945-211817607	MCF-7	breast:	n/a	chr1:211817165-211817184
31	MAX	chr1:211816621-211817674	Hela-S3	cervix:	n/a	chr1:211816943-211816952
32	TCF7L2	chr1:211816593-211817535	HCT-116	colon:	n/a	chr1:211817379-211817389 chr1:211816835-211816851 chr1:211816835-211816851 chr1:211816839-211816848
33	TBP	chr1:211816785-211817575	Hela-S3	cervix:	n/a	n/a
34	MXI1	chr1:211816622-211817485	HepG2	liver:	n/a	n/a
35	MYC	chr1:211816792-211817758	MCF10A-Er-Src	breast:	n/a	chr1:211816943-211816952
36	ZNF143	chr1:211816827-211817457	Hela-S3	cervix:	n/a	n/a
37	MAFK	chr1:211816606-211817654	Hela-S3	cervix:	n/a	n/a
38	MBD4	chr1:211816513-211817037	HepG2	liver:	n/a	n/a
39	POLR2A	chr1:211816584-211817508	PANC-1	pancreas:	n/a	n/a
40	FOXA1	chr1:211816462-211817492	HepG2	liver:	n/a	n/a
41	MAFK	chr1:211816571-211817016	HepG2	liver:	n/a	n/a
42	MXI1	chr1:211816713-211817810	SK-N-SH	brain:	n/a	n/a
43	FOXA1	chr1:211816899-211817482	T-47D	breast:	n/a	n/a
44	MAX	chr1:211816912-211817391	MCF-7	breast:	n/a	chr1:211816943-211816952
45	NFIC	chr1:211816719-211817754	SK-N-SH	brain:	n/a	n/a
46	JUND	chr1:211816576-211817004	HepG2	liver:	n/a	n/a
47	FOXA2	chr1:211816961-211817600	A549	lung:	n/a	n/a
48	ESR1	chr1:211816828-211817086	T-47D	breast:	n/a	n/a
49	FOXA1	chr1:211816576-211817582	HepG2	liver:	n/a	n/a
50	MBD4	chr1:211816603-211817025	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: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10158305	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10158307	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10158309	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10158749	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10158790	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10158874	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10159253	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10779564	0.85[JPT][hapmap]
rs11119783	0.92[ASN][1000 genomes]
rs11119784	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11119786	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11576789	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11577255	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12142250	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12734494	0.87[ASN][1000 genomes]
rs12744873	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12758005	1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1373293	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34451435	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35531215	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6667179	0.82[JPT][hapmap]
rs6669878	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6693364	0.92[ASN][1000 genomes]
rs7516924	0.84[AMR][1000 genomes]
rs7525247	0.82[JPT][hapmap]
rs7551699	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][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:89 , 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	chr1:211813200-211817000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr1:211813600-211817200	Weak transcription	HSMM	muscle
6	chr1:211813600-211821600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr1:211813800-211817000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr1:211813800-211822600	Weak transcription	NHDF-Ad	bronchial
9	chr1:211814000-211817000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr1:211814000-211817000	Weak transcription	Osteobl	bone
11	chr1:211814600-211818600	Flanking Active TSS	Hela-S3	cervix
12	chr1:211816000-211817000	Enhancers	Rectal Mucosa Donor 31	rectum
13	chr1:211816000-211817400	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr1:211816000-211817600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
15	chr1:211816000-211818000	Enhancers	Fetal Thymus	thymus
16	chr1:211816000-211818400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr1:211816200-211817000	Enhancers	Colonic Mucosa	Colon
18	chr1:211816200-211817400	Enhancers	Lung	lung
19	chr1:211816200-211817600	Enhancers	Brain Hippocampus Middle	brain
20	chr1:211816200-211817600	Enhancers	Fetal Muscle Leg	muscle
21	chr1:211816200-211817600	Enhancers	Ovary	ovary
22	chr1:211816200-211817600	Enhancers	Pancreas	Pancrea
23	chr1:211816200-211817600	Enhancers	Stomach Mucosa	stomach
24	chr1:211816200-211817800	Flanking Active TSS	HepG2	liver
25	chr1:211816200-211818600	Enhancers	Duodenum Mucosa	Duodenum
26	chr1:211816200-211819400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr1:211816400-211817000	Enhancers	Rectal Mucosa Donor 29	rectum
28	chr1:211816400-211817200	Enhancers	Skeletal Muscle Male	skeletal muscle
29	chr1:211816400-211817400	Enhancers	Fetal Heart	heart
30	chr1:211816400-211817600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr1:211816400-211817600	Enhancers	Gastric	stomach
32	chr1:211816400-211817600	Enhancers	Spleen	Spleen
33	chr1:211816400-211817600	Enhancers	NH-A	brain
34	chr1:211816400-211817800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr1:211816400-211817800	Enhancers	HMEC	breast
36	chr1:211816400-211817800	Enhancers	K562	blood
37	chr1:211816600-211817000	Enhancers	Brain Anterior Caudate	brain
38	chr1:211816600-211817200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
39	chr1:211816600-211817200	Enhancers	Primary T cells from cord blood	blood
40	chr1:211816600-211817400	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr1:211816600-211817400	Enhancers	Brain Angular Gyrus	brain
42	chr1:211816600-211817400	Enhancers	Fetal Lung	lung
43	chr1:211816600-211817400	Enhancers	Fetal Muscle Trunk	muscle
44	chr1:211816600-211817400	Enhancers	Left Ventricle	heart
45	chr1:211816600-211817600	Enhancers	Primary T cells fromperipheralblood	blood
46	chr1:211816600-211817600	Enhancers	Primary T helper cells PMA-I stimulated	--
47	chr1:211816600-211817600	Enhancers	Primary T helper cells fromperipheralblood	blood
48	chr1:211816600-211817600	Enhancers	Muscle Satellite Cultured Cells	--
49	chr1:211816600-211817600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr1:211816600-211817600	Enhancers	Esophagus	oesophagus

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