Variant report

Variant	rs191766672
Chromosome Location	chr11:75062903-75062904
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	FOXA1	chr11:75062791-75063054	T-47D	breast:	n/a	n/a
2	MXI1	chr11:75061581-75063894	IMR90	lung:	n/a	n/a
3	POLR2A	chr11:75062281-75063713	K562	blood:	n/a	n/a
4	MYC	chr11:75062809-75063028	MCF-7	breast:	n/a	n/a
5	POLR2A	chr11:75062491-75063155	HCT-116	colon:	n/a	n/a
6	POLR2A	chr11:75062513-75062981	MCF-7	breast:	n/a	n/a
7	ETS1	chr11:75062786-75063147	K562	blood:	n/a	chr11:75062986-75062999 chr11:75062984-75062995
8	POLR2A	chr11:75061938-75063689	HepG2	liver:	n/a	n/a
9	E2F4	chr11:75061989-75063690	K562	blood:	n/a	chr11:75062918-75062927
10	REST	chr11:75062794-75063917	HL-60	blood:	n/a	chr11:75063561-75063581 chr11:75063562-75063580 chr11:75063581-75063594 chr11:75062832-75062842 chr11:75063561-75063581 chr11:75063561-75063581
11	CHD2	chr11:75062628-75063033	Hela-S3	cervix:	n/a	n/a
12	CTCF	chr11:75061677-75062927	K562	blood:	n/a	chr11:75062708-75062726 chr11:75062711-75062724
13	MAX	chr11:75061600-75063828	HepG2	liver:	n/a	chr11:75061617-75061627 chr11:75062456-75062466 chr11:75061834-75061844
14	MYC	chr11:75061690-75063690	K562	blood:	n/a	chr11:75062456-75062466 chr11:75061834-75061844
15	POLR2A	chr11:75062521-75063077	A549	lung:	n/a	n/a
16	CREB1	chr11:75062027-75063172	H1-hESC	embryonic stem cell:	n/a	n/a
17	YY1	chr11:75062846-75063026	K562	blood:	n/a	n/a
18	CEBPD	chr11:75062828-75063622	HepG2	liver:	n/a	n/a
19	POLR2A	chr11:75062784-75063324	A549	lung:	n/a	n/a
20	MXI1	chr11:75060591-75063866	SK-N-SH	brain:	n/a	n/a
21	MTA3	chr11:75062838-75063272	GM12878	blood:	n/a	n/a
22	CREB1	chr11:75061754-75063276	K562	blood:	n/a	n/a
23	UBTF	chr11:75062507-75063634	K562	blood:	n/a	n/a
24	MYC	chr11:75062856-75063075	MCF-7	breast:	n/a	n/a
25	BHLHE40	chr11:75062797-75063297	GM12878	blood:	n/a	n/a
26	ZBTB7A	chr11:75062204-75063554	ECC-1	luminal epithelium:	n/a	chr11:75063403-75063410
27	MAZ	chr11:75061261-75063229	IMR90	lung:	n/a	chr11:75061617-75061627 chr11:75062456-75062466 chr11:75061834-75061844
28	EP300	chr11:75062848-75063629	K562	blood:	n/a	chr11:75063456-75063472 chr11:75063545-75063561 chr11:75062923-75062939 chr11:75062936-75062952
29	PAX5	chr11:75062805-75062993	GM12878	blood:	n/a	chr11:75062936-75062954
30	YY1	chr11:75062250-75063657	HepG2	liver:	n/a	chr11:75062836-75062850 chr11:75063255-75063269 chr11:75063407-75063416
31	HCFC1	chr11:75062336-75063667	K562	blood:	n/a	n/a
32	POLR2A	chr11:75062809-75063044	GM12878	blood:	n/a	n/a
33	POLR2A	chr11:75062799-75063687	HepG2	liver:	n/a	n/a
34	MYC	chr11:75062888-75063016	MCF10A-Er-Src	breast:	n/a	n/a
35	CHD2	chr11:75062809-75063518	GM12878	blood:	n/a	n/a
36	REST	chr11:75062777-75063112	PANC-1	pancreas:	n/a	chr11:75062832-75062842
37	POLR2A	chr11:75062507-75063129	ECC-1	luminal epithelium:	n/a	n/a
38	POLR2A	chr11:75062234-75063913	K562	blood:	n/a	n/a
39	YY1	chr11:75062137-75063020	K562	blood:	n/a	chr11:75062836-75062850
40	CTBP2	chr11:75061720-75063688	H1-hESC	embryonic stem cell:	n/a	n/a
41	MAX	chr11:75061989-75063414	ECC-1	luminal epithelium:	n/a	chr11:75062456-75062466
42	POLR2A	chr11:75062768-75063417	SK-N-SH	brain:	n/a	n/a
43	HMGN3	chr11:75062240-75063710	K562	blood:	n/a	n/a
44	HDAC2	chr11:75061620-75063413	MCF-7	breast:	n/a	n/a
45	ZNF143	chr11:75062459-75063099	GM12878	blood:	n/a	chr11:75062831-75062841
46	MAZ	chr11:75062561-75063090	Hela-S3	cervix:	n/a	n/a
47	TEAD4	chr11:75062813-75063677	K562	blood:	n/a	n/a
48	MAX	chr11:75061729-75063402	SK-N-SH	brain:	n/a	chr11:75062456-75062466 chr11:75061834-75061844
49	POLR2A	chr11:75062486-75063743	K562	blood:	n/a	n/a
50	POLR2A	chr11:75061661-75063782	HL-60	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:75061780..75064300-chr11:75109349..75111939,3	MCF-7	breast:
2	chr11:75061972..75065288-chr11:75110522..75113942,5	K562	blood:
3	chr11:75043210..75047420-chr11:75061230..75064804,5	MCF-7	breast:

Variant related genes	Relation type
ARRB1	TF binding region
ENSG00000149273	Chromatin interaction
ENSG00000206941	Chromatin interaction
ENSG00000199090	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1041640	chr11:74945824-75174688	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	94 gene(s)	inside rSNPs	diseases
2	nsv832211	chr11:74945839-75106125	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	66 gene(s)	inside rSNPs	diseases
3	nsv522447	chr11:74982939-75068767	Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA	57 gene(s)	inside rSNPs	diseases
4	esv3374722	chr11:75060004-75064302	Flanking Active TSS Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	n/a
5	esv3338679	chr11:75061154-75063652	Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	n/a
6	esv3423985	chr11:75061529-75064077	Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	n/a
7	esv3380305	chr11:75061754-75063802	Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:75060800-75063600	Active TSS	Rectal Smooth Muscle	rectum
2	chr11:75061000-75063600	Active TSS	Lung	lung
3	chr11:75061400-75063200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr11:75061400-75063800	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr11:75061600-75063200	Active TSS	Stomach Mucosa	stomach
6	chr11:75061600-75063400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
7	chr11:75061600-75063600	Flanking Active TSS	Liver	Liver
8	chr11:75061600-75063600	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr11:75061800-75063000	Active TSS	Breast Myoepithelial Primary Cells	Breast
10	chr11:75061800-75063000	Enhancers	Primary B cells from peripheral blood	blood
11	chr11:75061800-75063600	Active TSS	Colon Smooth Muscle	Colon
12	chr11:75061800-75063600	Active TSS	Small Intestine	intestine
13	chr11:75061800-75063800	Active TSS	Duodenum Smooth Muscle	Duodenum
14	chr11:75062000-75063200	Active TSS	A549	lung
15	chr11:75062000-75063400	Active TSS	Sigmoid Colon	Sigmoid Colon
16	chr11:75062000-75063600	Active TSS	Primary monocytes fromperipheralblood	blood
17	chr11:75062000-75063600	Active TSS	Psoas Muscle	Psoas
18	chr11:75062000-75064000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
19	chr11:75062200-75063000	Bivalent/Poised TSS	Brain Germinal Matrix	brain
20	chr11:75062200-75063000	Active TSS	Gastric	stomach
21	chr11:75062200-75063000	Active TSS	Right Ventricle	heart
22	chr11:75062200-75063000	Active TSS	Monocytes-CD14+_RO01746	blood
23	chr11:75062200-75063200	Active TSS	Fetal Adrenal Gland	Adrenal Gland
24	chr11:75062200-75063200	Active TSS	HSMMtube	muscle
25	chr11:75062200-75063400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr11:75062200-75063400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr11:75062200-75063400	Active TSS	Fetal Intestine Small	intestine
28	chr11:75062200-75063400	Active TSS	Fetal Stomach	stomach
29	chr11:75062200-75063400	Active TSS	HUVEC	blood vessel
30	chr11:75062200-75063600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
31	chr11:75062200-75063600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
32	chr11:75062200-75063600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
33	chr11:75062200-75063600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr11:75062200-75063600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
35	chr11:75062200-75063600	Active TSS	Primary T helper naive cells from peripheral blood	blood
36	chr11:75062200-75063600	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
37	chr11:75062200-75063600	Active TSS	Primary T killer memory cells from peripheral blood	blood
38	chr11:75062200-75063600	Active TSS	Brain Anterior Caudate	brain
39	chr11:75062200-75063600	Active TSS	Brain Substantia Nigra	brain
40	chr11:75062200-75063600	Active TSS	Duodenum Mucosa	Duodenum
41	chr11:75062200-75063600	Active TSS	Ovary	ovary
42	chr11:75062200-75063600	Active TSS	HSMM	muscle
43	chr11:75062200-75063800	Active TSS	H9 Cell Line	embryonic stem cell
44	chr11:75062200-75063800	Active TSS	Brain Inferior Temporal Lobe	brain
45	chr11:75062200-75064000	Active TSS	Brain Angular Gyrus	brain
46	chr11:75062400-75063000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr11:75062400-75063000	Active TSS	HUES6 Cell Line	embryonic stem cell
48	chr11:75062400-75063000	Active TSS	Primary T helper cells fromperipheralblood	blood
49	chr11:75062400-75063000	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
50	chr11:75062400-75063000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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