Variant report

Variant	rs12807065
Chromosome Location	chr11:71814733-71814734
allele	C/T
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	SMC3	chr11:71814499-71814797	GM12878	blood:	n/a	n/a
2	EP300	chr11:71813788-71815080	K562	blood:	n/a	chr11:71813912-71813925
3	TCF12	chr11:71813954-71814880	ECC-1	luminal epithelium:	n/a	n/a
4	TBP	chr11:71813578-71814983	K562	blood:	n/a	n/a
5	CHD1	chr11:71813593-71814827	H1-hESC	embryonic stem cell:	n/a	n/a
6	BRCA1	chr11:71813495-71814779	Hela-S3	cervix:	n/a	n/a
7	MAX	chr11:71814078-71814857	H1-hESC	embryonic stem cell:	n/a	chr11:71814531-71814540 chr11:71814337-71814346 chr11:71814499-71814514 chr11:71814373-71814383
8	POLR2A	chr11:71814098-71814821	Gliobla	brain:	n/a	n/a
9	SP1	chr11:71813812-71814881	A549	lung:	n/a	chr11:71814376-71814388 chr11:71814519-71814528 chr11:71814517-71814529 chr11:71814517-71814528 chr11:71814377-71814387 chr11:71814028-71814037 chr11:71814441-71814453 chr11:71814517-71814529 chr11:71814469-71814490 chr11:71814378-71814387 chr11:71814514-71814528 chr11:71814376-71814388
10	REST	chr11:71814112-71814745	SK-N-SH	brain:	n/a	n/a
11	USF1	chr11:71813854-71815007	ECC-1	luminal epithelium:	n/a	chr11:71814501-71814510 chr11:71814501-71814510
12	SETDB1	chr11:71814068-71814889	K562	blood:	n/a	n/a
13	NFATC1	chr11:71814235-71814858	GM12878	blood:	n/a	n/a
14	STAT3	chr11:71814285-71814837	MCF10A-Er-Src	breast:	n/a	n/a
15	POLR2A	chr11:71814070-71814741	A549	lung:	n/a	n/a
16	IRF1	chr11:71813453-71814995	K562	blood:	n/a	chr11:71813605-71813615 chr11:71814517-71814531
17	USF1	chr11:71813879-71814873	A549	lung:	n/a	chr11:71814501-71814510 chr11:71814501-71814510
18	USF1	chr11:71813823-71814854	H1-hESC	embryonic stem cell:	n/a	chr11:71814501-71814510 chr11:71814501-71814510
19	MAX	chr11:71813997-71814931	ECC-1	luminal epithelium:	n/a	chr11:71814531-71814540 chr11:71814337-71814346 chr11:71814499-71814514 chr11:71814373-71814383
20	POLR2A	chr11:71813691-71814798	HCT-116	colon:	n/a	n/a
21	GABPA	chr11:71813704-71814876	Hela-S3	cervix:	n/a	chr11:71814208-71814217
22	HEY1	chr11:71813278-71814867	K562	blood:	n/a	chr11:71814537-71814546
23	POLR2A	chr11:71813687-71814757	GM12891	blood:	n/a	n/a
24	SMC3	chr11:71813400-71815014	Hela-S3	cervix:	n/a	n/a
25	FOS	chr11:71814170-71814741	K562	blood:	n/a	chr11:71814472-71814481
26	TBL1XR1	chr11:71813093-71815310	K562	blood:	n/a	n/a
27	TBP	chr11:71813752-71814890	H1-hESC	embryonic stem cell:	n/a	n/a
28	FOXA2	chr11:71814159-71814742	A549	lung:	n/a	n/a
29	GTF2F1	chr11:71813680-71814748	H1-hESC	embryonic stem cell:	n/a	n/a
30	POLR2A	chr11:71811770-71815195	HepG2	liver:	n/a	n/a
31	GABPA	chr11:71813699-71814880	A549	lung:	n/a	chr11:71814208-71814217
32	SP4	chr11:71813947-71814905	H1-hESC	embryonic stem cell:	n/a	chr11:71814370-71814386 chr11:71814517-71814528
33	MAX	chr11:71813871-71814912	HepG2	liver:	n/a	chr11:71814531-71814540 chr11:71814337-71814346 chr11:71814499-71814514 chr11:71814373-71814383
34	MAX	chr11:71814149-71814987	H1-hESC	embryonic stem cell:	n/a	chr11:71814531-71814540 chr11:71814337-71814346 chr11:71814499-71814514 chr11:71814373-71814383
35	SMARCB1	chr11:71813650-71814946	Hela-S3	cervix:	n/a	n/a
36	MAFK	chr11:71814166-71814910	Hela-S3	cervix:	n/a	n/a
37	MYC	chr11:71813689-71814893	K562	blood:	n/a	chr11:71814531-71814540 chr11:71814337-71814346 chr11:71814499-71814514 chr11:71814373-71814383
38	YY1	chr11:71814105-71814771	SK-N-SH_RA	brain:	n/a	chr11:71814212-71814226 chr11:71814209-71814220
39	POLR2A	chr11:71813761-71814837	HepG2	liver:	n/a	n/a
40	CTCF	chr11:71814410-71814798	K562	blood:	n/a	n/a
41	YY1	chr11:71813715-71814787	GM12892	blood:	n/a	chr11:71814212-71814226 chr11:71814209-71814220
42	RUNX3	chr11:71813643-71814845	GM12878	blood:	n/a	n/a
43	ATF2	chr11:71814297-71814867	H1-hESC	embryonic stem cell:	n/a	n/a
44	NFATC1	chr11:71813597-71814871	GM12878	blood:	n/a	n/a
45	MYC	chr11:71814380-71814747	MCF10A-Er-Src	breast:	n/a	chr11:71814531-71814540 chr11:71814499-71814514
46	POLR2A	chr11:71814007-71814877	K562	blood:	n/a	n/a
47	FOXM1	chr11:71813968-71814798	GM12878	blood:	n/a	n/a
48	MAX	chr11:71813986-71814763	K562	blood:	n/a	chr11:71814531-71814540 chr11:71814337-71814346 chr11:71814499-71814514 chr11:71814373-71814383
49	CTCF	chr11:71814720-71814870	GM12864	blood:	n/a	n/a
50	YY1	chr11:71813970-71814788	SK-N-SH_RA	brain:	n/a	chr11:71814212-71814226 chr11:71814209-71814220

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:71814692-71814742	HCT-116	colon:	n/a
2	chr11:71814692-71814742	SAEC	small airway:	n/a
3	chr11:71814692-71814742	Hepatocyte	liver:	n/a
4	chr11:71814692-71814742	SK-N-MC	brain:	n/a
5	chr11:71814692-71814742	PANC-1	pancreas:	n/a
6	chr11:71814692-71814742	HMEC	breast:	n/a
7	chr11:71814692-71814742	AoSMC	blood vessel:	n/a
8	chr11:71814692-71814742	AG09309	skin:	n/a
9	chr11:71814692-71814742	NB4	blood:	n/a
10	chr11:71814692-71814742	HRE	kidney:	n/a
11	chr11:71814692-71814742	BJ	skin:	n/a
12	chr11:71814692-71814742	RPTEC	kidney:	n/a
13	chr11:71814692-71814742	HNPCEpiC	eye:	n/a
14	chr11:71814692-71814742	GM12892	blood:	n/a
15	chr11:71814692-71814742	Jurkat	blood:	n/a
16	chr11:71814692-71814742	NH-A	brain:	n/a
17	chr11:71814692-71814742	IMR90	lung:	fetal
18	chr11:71814692-71814742	T-47D	breast:	n/a
19	chr11:71814692-71814742	HCPEpiC	choroid plexus:	n/a
20	chr11:71814692-71814742	PrEC	prostate:	n/a
21	chr11:71814692-71814742	CMK	blood:	n/a
22	chr11:71814692-71814742	HL-60	blood:	n/a
23	chr11:71814692-71814742	AG09319	gingival:	n/a
24	chr11:71814692-71814742	SK-N-SH_RA	brain:	n/a
25	chr11:71814692-71814742	AG10803	skin:	n/a
26	chr11:71814692-71814742	SKMC	muscle:	n/a
27	chr11:71814692-71814742	NHBE	bronchial:	n/a
28	chr11:71814692-71814742	HUVEC	blood vessel:	n/a
29	chr11:71814692-71814742	AG04450	lung:	fetal
30	chr11:71814692-71814742	ovcar-3	ovarian:	n/a
31	chr11:71814692-71814742	SK-N-SH	brain:	n/a
32	chr11:71814692-71814742	AG04449	skin:	fetal
33	chr11:71814692-71814742	GM12878	blood:	n/a
34	chr11:71814692-71814742	BE2_C	brain:	n/a
35	chr11:71814692-71814742	HRPEpiC	eye:	n/a
36	chr11:71814692-71814742	HIPEpiC	eye:	n/a
37	chr11:71814692-71814742	HCM	heart:	n/a
38	chr11:71814692-71814742	GM12891	blood:	n/a
39	chr11:71814692-71814742	NHDF-neo	bronchial:	n/a
40	chr11:71814692-71814742	HepG2	liver:	n/a
41	chr11:71814692-71814742	H1-hESC	embryonic stem cell:	embryo
42	chr11:71814692-71814742	A549	lung:	n/a
43	chr11:71814692-71814742	HAEpiC	amniotic membrane:	n/a
44	chr11:71814692-71814742	GM19239	blood:	n/a
45	chr11:71814692-71814742	LNCaP	prostate:	n/a
46	chr11:71814692-71814742	HEK293	kidney:	embryo
47	chr11:71814692-71814742	MCF-7	breast:	n/a
48	chr11:71814692-71814742	HPAEpiC	pulmonary alveolar:	n/a
49	chr11:71814692-71814742	GM06990	blood:	n/a
50	chr11:71814692-71814742	Hela-S3	cervix:	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:71813954..71814835-chr2:220363053..220363932,2	NB4	blood:
2	chr1:149223518..149224364-chr11:71814116..71814927,2	Hela-S3	cervix:
3	chr11:71814518..71815081-chr11:71892378..71893328,2	MCF-7	breast:
4	chr11:71814139..71814783-chr3:185655003..185655789,2	Hela-S3	cervix:
5	chr11:71749829..71754834-chr11:71810770..71817366,12	MCF-7	breast:
6	chr11:71751619..71754177-chr11:71813642..71816501,2	K562	blood:
7	chr11:71747688..71754289-chr11:71810930..71816696,13	MCF-7	breast:
8	chr11:71812576..71816251-chr11:71934138..71937267,4	MCF-7	breast:
9	chr11:71814032..71814862-chr15:42565436..42566128,2	NB4	blood:
10	chr11:71814198..71814830-chr2:47403104..47403650,2	NB4	blood:
11	chr11:71747646..71754177-chr11:71811554..71816654,6	K562	blood:
12	chr11:71812980..71815340-chr11:72143854..72146897,3	MCF-7	breast:
13	chr11:71813081..71815809-chr11:72144185..72147079,2	K562	blood:
14	chr11:71795514..71800060-chr11:71810684..71814982,4	MCF-7	breast:
15	chr11:71812032..71815862-chr11:71933743..71937376,6	MCF-7	breast:
16	chr11:71789323..71798359-chr11:71810049..71815293,14	MCF-7	breast:
17	chr11:71813512..71815032-chr11:72144713..72146215,2	MCF-7	breast:
18	chr11:71813862..71814737-chr16:4303270..4303945,3	Hela-S3	cervix:
19	chr11:71733604..71737833-chr11:71811997..71815389,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000238768	TF binding region
LRTOMT	TF binding region
LAMTOR1	TF binding region
LRTOMT	CpG island
ENSG00000238768	CpG island
LAMTOR1	CpG island
ENSG00000103978	Chromatin interaction
ENSG00000206737	Chromatin interaction
ENSG00000262468	Chromatin interaction
ENSG00000162129	Chromatin interaction
ENSG00000214013	Chromatin interaction
ENSG00000212089	Chromatin interaction
ENSG00000137497	Chromatin interaction
ENSG00000184154	Chromatin interaction
ENSG00000165458	Chromatin interaction
ENSG00000136527	Chromatin interaction
ENSG00000144591	Chromatin interaction
ENSG00000143933	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11235411	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs11235445	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11235446	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35422431	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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	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

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:71812800-71814800	Active TSS	H9 Cell Line	embryonic stem cell
2	chr11:71813000-71814800	Active TSS	iPS-15b Cell Line	embryonic stem cell
3	chr11:71813000-71814800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr11:71813200-71814800	Active TSS	Gastric	stomach
5	chr11:71813200-71814800	Active TSS	Lung	lung
6	chr11:71813200-71814800	Active TSS	Small Intestine	intestine
7	chr11:71813200-71815000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr11:71813200-71815000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr11:71813400-71814800	Active TSS	ES-I3 Cell Line	embryonic stem cell
10	chr11:71813400-71814800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
11	chr11:71813400-71814800	Active TSS	HUES48 Cell Line	embryonic stem cell
12	chr11:71813400-71814800	Active TSS	HUES64 Cell Line	embryonic stem cell
13	chr11:71813400-71814800	Active TSS	iPS-18 Cell Line	embryonic stem cell
14	chr11:71813400-71814800	Active TSS	Esophagus	oesophagus
15	chr11:71813400-71815000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr11:71813400-71815000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr11:71813600-71814800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr11:71813600-71814800	Active TSS	iPS-20b Cell Line	embryonic stem cell
19	chr11:71813600-71814800	Active TSS	Aorta	Aorta
20	chr11:71813600-71814800	Active TSS	Right Atrium	heart
21	chr11:71813600-71814800	Active TSS	HSMMtube	muscle
22	chr11:71813600-71815000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
23	chr11:71813600-71815000	Active TSS	Pancreatic Islets	Pancreatic Islet
24	chr11:71813600-71815000	Active TSS	Ovary	ovary
25	chr11:71813600-71815200	Active TSS	Psoas Muscle	Psoas
26	chr11:71813800-71814800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr11:71814000-71814800	Active TSS	Brain Germinal Matrix	brain
28	chr11:71814000-71815200	Active TSS	Duodenum Smooth Muscle	Duodenum
29	chr11:71814400-71814800	Enhancers	Primary hematopoietic stem cells	blood
30	chr11:71814400-71815200	Flanking Active TSS	Adipose Nuclei	Adipose
31	chr11:71814400-71815400	Flanking Active TSS	Dnd41	blood
32	chr11:71814600-71814800	Flanking Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr11:71814600-71814800	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr11:71814600-71814800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr11:71814600-71814800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr11:71814600-71814800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
37	chr11:71814600-71814800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
38	chr11:71814600-71814800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr11:71814600-71814800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
40	chr11:71814600-71814800	Flanking Active TSS	Placenta	Placenta
41	chr11:71814600-71815000	Flanking Active TSS	H1 Cell Line	embryonic stem cell
42	chr11:71814600-71815000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr11:71814600-71815000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr11:71814600-71815000	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr11:71814600-71815000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
46	chr11:71814600-71815000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr11:71814600-71815000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr11:71814600-71815000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr11:71814600-71815000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr11:71814600-71815000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood

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