Variant report

Variant	rs57895567
Chromosome Location	chr11:64878506-64878507
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:23)
CpG islands
(count:0)
Chromatin interactive
region (count:36)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:23 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SIX5	chr11:64878354-64878843	A549	lung:	n/a	n/a
2	POLR2A	chr11:64876759-64881077	GM12892	blood:	n/a	n/a
3	POLR2A	chr11:64878449-64881062	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr11:64876671-64878516	HL-60	blood:	n/a	n/a
5	POLR2A	chr11:64877568-64887885	HepG2	liver:	n/a	n/a
6	POLR2A	chr11:64876785-64878570	GM12892	blood:	n/a	n/a
7	POLR2A	chr11:64876843-64878566	GM12892	blood:	n/a	n/a
8	POLR2A	chr11:64878470-64878631	K562	blood:	n/a	n/a
9	CTCF	chr11:64878440-64878590	AG04450	lung:	n/a	n/a
10	POLR2A	chr11:64877481-64878561	GM12878	blood:	n/a	n/a
11	CTCF	chr11:64877431-64878507	SK-N-SH	brain:	n/a	n/a
12	POLR2A	chr11:64877637-64885859	SK-N-MC	brain:	n/a	n/a
13	POLR2A	chr11:64876869-64881240	K562	blood:	n/a	n/a
14	POLR2A	chr11:64876227-64885692	HepG2	liver:	n/a	n/a
15	POLR2A	chr11:64876935-64881334	K562	blood:	n/a	n/a
16	POLR2A	chr11:64878309-64878794	GM12892	blood:	n/a	n/a
17	MTA3	chr11:64877414-64881839	GM12878	blood:	n/a	n/a
18	POLR2A	chr11:64876687-64878556	GM12878	blood:	n/a	n/a
19	POLR2A	chr11:64876666-64887064	K562	blood:	n/a	n/a
20	STAT5A	chr11:64878208-64881326	GM12878	blood:	n/a	chr11:64880500-64880512 chr11:64881132-64881144 chr11:64880638-64880650 chr11:64880210-64880222
21	POLR2A	chr11:64877687-64878578	Hela-S3	cervix:	n/a	n/a
22	POLR2A	chr11:64876107-64881210	GM12878	blood:	n/a	n/a
23	POLR2A	chr11:64876945-64886917	PANC-1	pancreas:	n/a	n/a

No data

(count:36 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:64877480..64878722-chr11:64948008..64949236,4	K562	blood:
2	chr11:64860579..64868255-chr11:64873377..64881831,25	K562	blood:
3	chr11:64877106..64879107-chr11:64941043..64943277,3	K562	blood:
4	chr11:64877899..64878692-chr11:64948009..64948993,4	MCF-7	breast:
5	chr11:64778393..64787449-chr11:64877655..64886980,25	K562	blood:
6	chr11:64807959..64809979-chr11:64878035..64880846,2	K562	blood:
7	chr11:64792804..64795022-chr11:64876494..64879449,2	K562	blood:
8	chr11:64849359..64854600-chr11:64874292..64883144,16	MCF-7	breast:
9	chr11:64682540..64686355-chr11:64876478..64880305,4	K562	blood:
10	chr11:64877474..64879697-chr11:65341982..65344398,2	MCF-7	breast:
11	chr11:64878496..64880406-chr6:32939807..32941576,2	MCF-7	breast:
12	chr11:64877702..64891058-chr11:64944203..64957091,32	K562	blood:
13	chr11:64643787..64646984-chr11:64875593..64882466,11	MCF-7	breast:
14	chr11:64875868..64888016-chr11:64945810..64953962,46	MCF-7	breast:
15	chr11:64878219..64880196-chr11:65291399..65293373,2	MCF-7	breast:
16	chr11:64779881..64786783-chr11:64876081..64880870,13	MCF-7	breast:
17	chr11:64878321..64880931-chr11:65028635..65030509,3	MCF-7	breast:
18	chr11:64849456..64854518-chr11:64877116..64882654,9	K562	blood:
19	chr11:64778507..64787901-chr11:64877920..64890097,31	K562	blood:
20	chr11:64644806..64648507-chr11:64877927..64882201,4	MCF-7	breast:
21	chr11:64772580..64786543-chr11:64875055..64887722,37	MCF-7	breast:
22	chr11:64878261..64886969-chr11:64935331..64941944,21	K562	blood:
23	chr11:64807050..64811411-chr11:64876533..64881108,6	MCF-7	breast:
24	chr11:64607104..64613028-chr11:64878466..64882720,9	MCF-7	breast:
25	chr11:64877522..64908330-chr11:64931619..64960265,171	MCF-7	breast:
26	chr11:64876667..64879055-chr11:65292718..65294570,2	K562	blood:
27	chr11:64576531..64579028-chr11:64877071..64879656,2	MCF-7	breast:
28	chr11:64878011..64879555-chr11:64948753..64950744,2	K562	blood:
29	chr11:64877165..64880640-chr11:64955591..64959412,3	K562	blood:
30	chr11:64807549..64809979-chr11:64878035..64880006,2	K562	blood:
31	chr11:64877977..64880621-chr15:82337934..82340842,2	MCF-7	breast:
32	chr11:64606648..64614730-chr11:64876453..64886748,20	MCF-7	breast:
33	chr11:64781085..64781644-chr11:64877896..64878600,2	K562	blood:
34	chr11:64877278..64879972-chr6:31801371..31804052,2	MCF-7	breast:
35	chr11:64824539..64826816-chr11:64878360..64880672,2	MCF-7	breast:
36	chr11:64877908..64880031-chr17:57915265..57917723,2	MCF-7	breast:

No data

Variant related genes	Relation type
TM7SF2	TF binding region
ENSG00000204710	Chromatin interaction
ENSG00000273003	Chromatin interaction
ENSG00000183496	Chromatin interaction
ENSG00000110047	Chromatin interaction
ENSG00000062716	Chromatin interaction
ENSG00000263756	Chromatin interaction
ENSG00000168060	Chromatin interaction
ENSG00000168061	Chromatin interaction
ENSG00000201823	Chromatin interaction
ENSG00000014216	Chromatin interaction
ENSG00000213465	Chromatin interaction
ENSG00000173442	Chromatin interaction
ENSG00000110025	Chromatin interaction
ENSG00000142186	Chromatin interaction
ENSG00000133895	Chromatin interaction
ENSG00000249251	Chromatin interaction
ENSG00000146670	Chromatin interaction
ENSG00000110046	Chromatin interaction
ENSG00000162300	Chromatin interaction
ENSG00000204387	Chromatin interaction
ENSG00000204256	Chromatin interaction
ENSG00000149823	Chromatin interaction
ENSG00000068971	Chromatin interaction
ENSG00000270775	Chromatin interaction
ENSG00000255200	Chromatin interaction
ENSG00000254614	Chromatin interaction
ENSG00000014138	Chromatin interaction
ENSG00000171219	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs11819994	1.00[EUR][1000 genomes]
rs11824823	1.00[EUR][1000 genomes]
rs11825104	1.00[EUR][1000 genomes]
rs11826724	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11828131	1.00[EUR][1000 genomes]
rs17145206	1.00[EUR][1000 genomes]
rs17146681	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17882241	1.00[EUR][1000 genomes]
rs17883601	1.00[EUR][1000 genomes]
rs17884528	1.00[EUR][1000 genomes]
rs17885792	1.00[EUR][1000 genomes]
rs17886339	1.00[EUR][1000 genomes]
rs57292990	1.00[EUR][1000 genomes]
rs57983247	1.00[EUR][1000 genomes]
rs58009266	1.00[EUR][1000 genomes]
rs58306239	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60034183	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60169759	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60568743	1.00[EUR][1000 genomes]
rs61136517	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61202604	1.00[EUR][1000 genomes]
rs61231480	1.00[EUR][1000 genomes]
rs61746813	1.00[EUR][1000 genomes]
rs73474770	1.00[EUR][1000 genomes]
rs73474771	1.00[EUR][1000 genomes]
rs73474781	1.00[EUR][1000 genomes]
rs73477004	1.00[EUR][1000 genomes]
rs73477025	1.00[EUR][1000 genomes]
rs73477027	1.00[EUR][1000 genomes]
rs73477209	1.00[EUR][1000 genomes]
rs73477214	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73477217	1.00[AMR][1000 genomes]
rs73477223	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73477224	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73477233	1.00[EUR][1000 genomes]
rs73477237	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73479135	1.00[EUR][1000 genomes]
rs73480916	1.00[EUR][1000 genomes]
rs73480917	1.00[EUR][1000 genomes]
rs73480936	1.00[EUR][1000 genomes]
rs73480948	1.00[EUR][1000 genomes]
rs73481122	1.00[EUR][1000 genomes]
rs73495050	1.00[EUR][1000 genomes]
rs73495054	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73495060	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs769438	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs769439	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv526181	chr11:64638041-65257329	Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1539 gene(s)	inside rSNPs	diseases
2	nsv897710	chr11:64772545-64885445	Flanking Active TSS Strong transcription Genic enhancers Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
3	nsv897711	chr11:64772545-64900270	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
4	nsv897712	chr11:64856695-64882789	Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	67 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64864200-64879400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:64864800-64878600	Weak transcription	Small Intestine	intestine
3	chr11:64864800-64879400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr11:64865000-64879000	Weak transcription	Fetal Kidney	kidney
5	chr11:64871000-64879000	Weak transcription	NH-A	brain
6	chr11:64871400-64879200	Weak transcription	HSMM	muscle
7	chr11:64871400-64879400	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr11:64873400-64879000	Weak transcription	Right Atrium	heart
9	chr11:64875400-64880600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr11:64876000-64879000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr11:64876400-64879000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr11:64877200-64878800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr11:64877200-64878800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr11:64877200-64878800	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr11:64877400-64878800	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr11:64877400-64878800	Weak transcription	Gastric	stomach
17	chr11:64877400-64878800	Weak transcription	Ovary	ovary
18	chr11:64877400-64879000	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr11:64877400-64879400	Enhancers	Fetal Heart	heart
20	chr11:64877600-64878600	Enhancers	Primary T helper cells fromperipheralblood	blood
21	chr11:64877600-64878600	Weak transcription	Lung	lung
22	chr11:64877600-64878600	Genic enhancers	Rectal Mucosa Donor 29	rectum
23	chr11:64877600-64878600	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr11:64877600-64878800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr11:64877600-64878800	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr11:64877600-64879000	Enhancers	Primary T cells fromperipheralblood	blood
27	chr11:64877600-64879000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
28	chr11:64877600-64879000	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr11:64877600-64879000	Weak transcription	Thymus	Thymus
30	chr11:64877600-64879000	Genic enhancers	Dnd41	blood
31	chr11:64877600-64879200	Enhancers	Primary B cells from peripheral blood	blood
32	chr11:64877600-64879200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
33	chr11:64877600-64879200	Enhancers	Primary T helper naive cells from peripheral blood	blood
34	chr11:64877600-64879200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr11:64877600-64879200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
36	chr11:64877600-64879200	Enhancers	Primary T killer memory cells from peripheral blood	blood
37	chr11:64877600-64879200	Genic enhancers	Fetal Thymus	thymus
38	chr11:64877600-64879400	Weak transcription	Aorta	Aorta
39	chr11:64877800-64878600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr11:64877800-64878800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
41	chr11:64877800-64878800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr11:64877800-64878800	Enhancers	Brain Inferior Temporal Lobe	brain
43	chr11:64877800-64878800	Enhancers	Brain Substantia Nigra	brain
44	chr11:64877800-64878800	Genic enhancers	Skeletal Muscle Male	skeletal muscle
45	chr11:64877800-64879000	Enhancers	Duodenum Mucosa	Duodenum
46	chr11:64877800-64879000	Enhancers	Spleen	Spleen
47	chr11:64877800-64879200	Enhancers	Primary B cells from cord blood	blood
48	chr11:64877800-64879200	Enhancers	Primary T cells from cord blood	blood
49	chr11:64877800-64879200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
50	chr11:64877800-64879200	Enhancers	Fetal Muscle Leg	muscle

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