Variant report

Variant	rs7011702
Chromosome Location	chr8:110657355-110657356
allele	G/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	RCOR1	chr8:110656029-110658212	HepG2	liver:	n/a	n/a
2	E2F6	chr8:110656281-110657372	K562	blood:	n/a	chr8:110657022-110657032 chr8:110656977-110656986 chr8:110657215-110657224
3	POLR2A	chr8:110656940-110657824	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr8:110656784-110657989	U87	brain:	n/a	n/a
5	ZEB1	chr8:110656812-110657360	GM12878	blood:	n/a	chr8:110657143-110657150
6	MAZ	chr8:110656743-110657621	K562	blood:	n/a	chr8:110657086-110657097 chr8:110657087-110657096 chr8:110657086-110657096 chr8:110657086-110657096
7	POLR2A	chr8:110656771-110658043	H1-hESC	embryonic stem cell:	n/a	n/a
8	MYC	chr8:110656811-110657685	K562	blood:	n/a	chr8:110657086-110657097 chr8:110657087-110657096 chr8:110657086-110657096 chr8:110657086-110657096
9	CTCF	chr8:110656624-110657730	MCF-7	breast:	n/a	chr8:110656932-110656945 chr8:110656929-110656947
10	NFIC	chr8:110656960-110657453	GM12878	blood:	n/a	n/a
11	SMC3	chr8:110656019-110657530	Hela-S3	cervix:	n/a	n/a
12	CTCF	chr8:110656496-110657932	A549	lung:	n/a	chr8:110656932-110656945 chr8:110656929-110656947
13	POLR2A	chr8:110656085-110657683	Hela-S3	cervix:	n/a	n/a
14	EGR1	chr8:110656866-110657526	MCF-7	breast:	n/a	chr8:110657124-110657138 chr8:110657215-110657225 chr8:110657216-110657229
15	RCOR1	chr8:110656755-110657618	GM12878	blood:	n/a	n/a
16	ZEB1	chr8:110656635-110657537	GM12878	blood:	n/a	chr8:110657143-110657150
17	USF1	chr8:110656223-110657476	HCT-116	colon:	n/a	chr8:110656916-110656932 chr8:110656977-110656993 chr8:110657171-110657187 chr8:110657085-110657096 chr8:110657023-110657039 chr8:110656985-110657001
18	MTA3	chr8:110657125-110657935	GM12878	blood:	n/a	n/a
19	HDAC2	chr8:110656353-110658190	MCF-7	breast:	n/a	n/a
20	MAX	chr8:110656031-110657636	A549	lung:	n/a	chr8:110657086-110657097 chr8:110657087-110657096 chr8:110657086-110657096 chr8:110657086-110657096 chr8:110656320-110656329
21	MAX	chr8:110656345-110657452	A549	lung:	n/a	chr8:110657086-110657097 chr8:110657087-110657096 chr8:110657086-110657096 chr8:110657086-110657096
22	RCOR1	chr8:110656468-110657646	K562	blood:	n/a	n/a
23	TBP	chr8:110656872-110657504	K562	blood:	n/a	n/a
24	USF2	chr8:110656902-110657393	H1-hESC	embryonic stem cell:	n/a	chr8:110656916-110656932 chr8:110656977-110656993 chr8:110657171-110657187 chr8:110657023-110657039 chr8:110656985-110657001
25	POLR2A	chr8:110656746-110657520	PANC-1	pancreas:	n/a	n/a
26	CTBP2	chr8:110656273-110657777	H1-hESC	embryonic stem cell:	n/a	n/a
27	SMARCB1	chr8:110656228-110657727	Hela-S3	cervix:	n/a	n/a
28	MAX	chr8:110654743-110657818	HCT-116	colon:	n/a	chr8:110655359-110655370 chr8:110657086-110657097 chr8:110655794-110655803 chr8:110657087-110657096 chr8:110657086-110657096 chr8:110657086-110657096 chr8:110656320-110656329
29	CTCF	chr8:110656437-110657592	GM12878	blood:	n/a	chr8:110656932-110656945 chr8:110656929-110656947
30	RFX5	chr8:110655770-110657411	Hela-S3	cervix:	n/a	n/a
31	MYC	chr8:110656747-110658196	A549	lung:	n/a	chr8:110657086-110657097 chr8:110657087-110657096 chr8:110657086-110657096 chr8:110657086-110657096
32	MAZ	chr8:110656807-110657357	GM12878	blood:	n/a	chr8:110657086-110657097 chr8:110657087-110657096 chr8:110657086-110657096 chr8:110657086-110657096
33	CHD2	chr8:110656114-110657364	Hela-S3	cervix:	n/a	chr8:110657213-110657223 chr8:110656907-110656917
34	TFAP2A	chr8:110656113-110657476	Hela-S3	cervix:	n/a	chr8:110657152-110657164 chr8:110657152-110657164 chr8:110656986-110657001 chr8:110657152-110657164 chr8:110657152-110657164 chr8:110656892-110656907
35	MYC	chr8:110656754-110657659	K562	blood:	n/a	chr8:110657086-110657097 chr8:110657087-110657096 chr8:110657086-110657096 chr8:110657086-110657096
36	ELF1	chr8:110656658-110658001	GM12878	blood:	n/a	chr8:110657024-110657033 chr8:110656972-110656984 chr8:110657718-110657731 chr8:110656920-110656929 chr8:110657021-110657030 chr8:110657026-110657038
37	MAX	chr8:110655945-110658291	HepG2	liver:	n/a	chr8:110657086-110657097 chr8:110657087-110657096 chr8:110657086-110657096 chr8:110657086-110657096 chr8:110656320-110656329
38	USF2	chr8:110656929-110657598	Hela-S3	cervix:	n/a	chr8:110656977-110656993 chr8:110657171-110657187 chr8:110657023-110657039 chr8:110656985-110657001
39	POLR2A	chr8:110656658-110657363	H1-neurons	neurons:	n/a	n/a
40	POLR2A	chr8:110656295-110657533	Raji	blood:	n/a	n/a
41	POLR2A	chr8:110656706-110657845	U87	brain:	n/a	n/a
42	MAX	chr8:110656045-110658216	HepG2	liver:	n/a	chr8:110657086-110657097 chr8:110657087-110657096 chr8:110657086-110657096 chr8:110657086-110657096 chr8:110656320-110656329
43	HEY1	chr8:110656841-110657369	HepG2	liver:	n/a	chr8:110656913-110656928 chr8:110657183-110657198 chr8:110656890-110656905 chr8:110657020-110657035
44	POLR2A	chr8:110656447-110657703	GM19193	blood:	n/a	n/a
45	MXI1	chr8:110656099-110658119	SK-N-SH	brain:	n/a	chr8:110657086-110657095
46	POLR2A	chr8:110656774-110657845	U87	brain:	n/a	n/a
47	POLR2A	chr8:110657334-110657780	H1-hESC	embryonic stem cell:	n/a	n/a
48	POLR2A	chr8:110656344-110657677	GM12892	blood:	n/a	n/a
49	POLR2A	chr8:110656420-110657586	HCT-116	colon:	n/a	n/a
50	MAX	chr8:110656095-110657752	MCF-7	breast:	n/a	chr8:110657086-110657097 chr8:110657087-110657096 chr8:110657086-110657096 chr8:110657086-110657096 chr8:110656320-110656329

No.	Distal block	Cell Line	Cell type
1	chr8:110550248..110554482-chr8:110655662..110659384,5	MCF-7	breast:
2	chr8:110551215..110554146-chr8:110654892..110657586,2	K562	blood:
3	chr8:110343048..110346506-chr8:110655063..110657604,4	MCF-7	breast:
4	chr8:110344753..110346999-chr8:110656055..110658588,2	MCF-7	breast:
5	chr8:110656684..110658658-chr8:110660535..110663260,4	MCF-7	breast:
6	chr8:110656100..110658662-chr8:110702004..110704480,2	MCF-7	breast:
7	chr8:110587726..110588239-chr8:110657058..110657597,2	MCF-7	breast:
8	chr8:110550854..110555574-chr8:110655521..110658971,8	MCF-7	breast:
9	chr17:26663154..26664082-chr8:110656871..110657706,2	Hela-S3	cervix:
10	chr8:110345081..110347283-chr8:110656599..110658183,2	K562	blood:

Variant related genes	Relation type
SYBU	TF binding region
ENSG00000147642	Chromatin interaction
ENSG00000120526	Chromatin interaction
ENSG00000120533	Chromatin interaction
ENSG00000147654	Chromatin interaction
ENSG00000109079	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10092211	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10098728	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10106169	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10106568	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10106809	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11988264	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16879862	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16879869	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16879889	0.86[ASN][1000 genomes]
rs16879903	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16879906	0.86[ASN][1000 genomes]
rs28404625	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28465493	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28636990	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28726128	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4313130	0.86[ASN][1000 genomes]
rs4506181	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56384256	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56838167	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57167766	0.86[ASN][1000 genomes]
rs57285880	0.86[ASN][1000 genomes]
rs58404081	0.86[ASN][1000 genomes]
rs58910462	0.86[ASN][1000 genomes]
rs59161508	0.86[ASN][1000 genomes]
rs59892422	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs60841208	0.86[ASN][1000 genomes]
rs61437630	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61702273	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6469277	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6987830	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7017357	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73321006	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73321029	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7817360	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7817773	0.86[ASN][1000 genomes]
rs7824472	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7825942	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7841022	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7842227	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7843208	1.00[EUR][1000 genomes]
rs9297431	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[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	esv1849702	chr8:110594148-110683804	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:110654800-110661200	Active TSS	Brain Inferior Temporal Lobe	brain
2	chr8:110655000-110657600	Active TSS	Brain Anterior Caudate	brain
3	chr8:110655000-110657800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
4	chr8:110655200-110657800	Active TSS	Pancreas	Pancrea
5	chr8:110655200-110661200	Active TSS	Brain Angular Gyrus	brain
6	chr8:110655400-110658000	Active TSS	Duodenum Smooth Muscle	Duodenum
7	chr8:110655400-110658000	Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr8:110655600-110657400	Active TSS	Brain Cingulate Gyrus	brain
9	chr8:110655600-110657600	Active TSS	Breast Myoepithelial Primary Cells	Breast
10	chr8:110655600-110658000	Active TSS	Right Atrium	heart
11	chr8:110655800-110657800	Active TSS	Colon Smooth Muscle	Colon
12	chr8:110655800-110659400	Active TSS	Brain Hippocampus Middle	brain
13	chr8:110656000-110657400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
14	chr8:110656000-110657400	Bivalent/Poised TSS	Fetal Intestine Large	intestine
15	chr8:110656000-110657400	Active TSS	Stomach Mucosa	stomach
16	chr8:110656000-110657400	Active TSS	Hela-S3	cervix
17	chr8:110656000-110657600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
18	chr8:110656000-110657600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr8:110656000-110657600	Active TSS	A549	lung
20	chr8:110656000-110657800	Active TSS	Gastric	stomach
21	chr8:110656000-110658000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
22	chr8:110656000-110658000	Bivalent/Poised TSS	Fetal Kidney	kidney
23	chr8:110656000-110658200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
24	chr8:110656200-110657400	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr8:110656200-110657400	Active TSS	Rectal Mucosa Donor 31	rectum
26	chr8:110656200-110657400	Active TSS	NHEK	skin
27	chr8:110656200-110657600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr8:110656200-110657600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr8:110656200-110657800	Active TSS	Rectal Smooth Muscle	rectum
30	chr8:110656200-110658000	Active TSS	Aorta	Aorta
31	chr8:110656400-110657400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr8:110656400-110657400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr8:110656400-110657600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr8:110656400-110657600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
35	chr8:110656400-110657600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
36	chr8:110656400-110657600	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
37	chr8:110656400-110657600	Bivalent/Poised TSS	Thymus	Thymus
38	chr8:110656400-110657800	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr8:110656400-110657800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr8:110656400-110657800	Active TSS	Brain Substantia Nigra	brain
41	chr8:110656400-110657800	Active TSS	Fetal Intestine Small	intestine
42	chr8:110656600-110657400	Bivalent/Poised TSS	Primary T cells from cord blood	blood
43	chr8:110656600-110657400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
44	chr8:110656600-110657400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr8:110656600-110657400	Active TSS	Brain Germinal Matrix	brain
46	chr8:110656600-110657400	Active TSS	Fetal Brain Female	brain
47	chr8:110656600-110657400	Active TSS	Sigmoid Colon	Sigmoid Colon
48	chr8:110656600-110657400	Active TSS	Stomach Smooth Muscle	stomach
49	chr8:110656600-110657600	Enhancers	Primary T killer memory cells from peripheral blood	blood
50	chr8:110656600-110657600	Active TSS	Small Intestine	intestine

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