Variant report

Variant	rs7817360
Chromosome Location	chr8:110656272-110656273
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	RCOR1	chr8:110656029-110658212	HepG2	liver:	n/a	n/a
2	STAT1	chr8:110656082-110656554	GM12878	blood:	n/a	n/a
3	POLR2A	chr8:110656191-110657318	H1-neurons	neurons:	n/a	n/a
4	MYC	chr8:110656254-110656580	HepG2	liver:	n/a	chr8:110656320-110656329
5	SMC3	chr8:110656019-110657530	Hela-S3	cervix:	n/a	n/a
6	FOXA1	chr8:110656105-110656472	T-47D	breast:	n/a	n/a
7	POLR2A	chr8:110656085-110657683	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr8:110656117-110656325	Hela-S3	cervix:	n/a	n/a
9	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
10	CEBPB	chr8:110655994-110656374	HepG2	liver:	n/a	chr8:110656169-110656180
11	MAX	chr8:110656031-110657636	A549	lung:	n/a	chr8:110657086-110657097 chr8:110657087-110657096 chr8:110657086-110657096 chr8:110657086-110657096 chr8:110656320-110656329
12	HDAC2	chr8:110656076-110656432	HepG2	liver:	n/a	n/a
13	USF2	chr8:110655916-110656552	Hela-S3	cervix:	n/a	n/a
14	SMARCB1	chr8:110656228-110657727	Hela-S3	cervix:	n/a	n/a
15	CEBPB	chr8:110656155-110656300	HepG2	liver:	n/a	chr8:110656169-110656180
16	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
17	RFX5	chr8:110655770-110657411	Hela-S3	cervix:	n/a	n/a
18	E2F6	chr8:110656231-110657309	H1-hESC	embryonic stem cell:	n/a	chr8:110657022-110657032 chr8:110656977-110656986 chr8:110657215-110657224
19	CHD2	chr8:110656114-110657364	Hela-S3	cervix:	n/a	chr8:110657213-110657223 chr8:110656907-110656917
20	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
21	TCF12	chr8:110656149-110656963	A549	lung:	n/a	n/a
22	MAX	chr8:110655945-110658291	HepG2	liver:	n/a	chr8:110657086-110657097 chr8:110657087-110657096 chr8:110657086-110657096 chr8:110657086-110657096 chr8:110656320-110656329
23	MAX	chr8:110656045-110658216	HepG2	liver:	n/a	chr8:110657086-110657097 chr8:110657087-110657096 chr8:110657086-110657096 chr8:110657086-110657096 chr8:110656320-110656329
24	POLR2A	chr8:110656246-110656691	Hela-S3	cervix:	n/a	n/a
25	MXI1	chr8:110656099-110658119	SK-N-SH	brain:	n/a	chr8:110657086-110657095
26	RCOR1	chr8:110656128-110656314	GM12878	blood:	n/a	n/a
27	MXI1	chr8:110655990-110657245	Hela-S3	cervix:	n/a	chr8:110657086-110657095
28	TEAD4	chr8:110655935-110656421	HepG2	liver:	n/a	n/a
29	FOXA1	chr8:110656033-110656481	HepG2	liver:	n/a	n/a
30	MAX	chr8:110656095-110657752	MCF-7	breast:	n/a	chr8:110657086-110657097 chr8:110657087-110657096 chr8:110657086-110657096 chr8:110657086-110657096 chr8:110656320-110656329
31	ZEB1	chr8:110656235-110656524	GM12878	blood:	n/a	n/a
32	E2F6	chr8:110656024-110657486	A549	lung:	n/a	chr8:110657022-110657032 chr8:110656977-110656986 chr8:110657215-110657224
33	EP300	chr8:110656134-110656498	HepG2	liver:	n/a	chr8:110656296-110656306
34	GATA3	chr8:110656071-110656631	T-47D	breast:	n/a	n/a
35	MYC	chr8:110656066-110657342	Hela-S3	cervix:	n/a	chr8:110657086-110657097 chr8:110657087-110657096 chr8:110657086-110657096 chr8:110657086-110657096 chr8:110656320-110656329
36	ZNF263	chr8:110654963-110657165	HEK293-T-REx	kidney:	n/a	n/a
37	RCOR1	chr8:110655891-110657416	Hela-S3	cervix:	n/a	n/a
38	MAZ	chr8:110656107-110657662	Hela-S3	cervix:	n/a	chr8:110657086-110657097 chr8:110657087-110657096 chr8:110657086-110657096 chr8:110657086-110657096 chr8:110656320-110656329
39	RUNX3	chr8:110656255-110656617	GM12878	blood:	n/a	n/a
40	KAP1	chr8:110655908-110656672	U2OS	brain:	n/a	n/a
41	MYC	chr8:110656120-110656657	Hela-S3	cervix:	n/a	chr8:110656320-110656329
42	MAX	chr8:110656003-110657628	Hela-S3	cervix:	n/a	chr8:110657086-110657097 chr8:110657087-110657096 chr8:110657086-110657096 chr8:110657086-110657096 chr8:110656320-110656329
43	MAX	chr8:110656117-110657476	K562	blood:	n/a	chr8:110657086-110657097 chr8:110657087-110657096 chr8:110657086-110657096 chr8:110657086-110657096 chr8:110656320-110656329
44	MYC	chr8:110656231-110656459	K562	blood:	n/a	chr8:110656320-110656329
45	MYC	chr8:110656008-110657314	MCF10A-Er-Src	breast:	n/a	chr8:110657086-110657097 chr8:110657087-110657096 chr8:110657086-110657096 chr8:110657086-110657096 chr8:110656320-110656329
46	FOXA1	chr8:110656000-110656563	HepG2	liver:	n/a	n/a
47	FOXA1	chr8:110656059-110656531	HepG2	liver:	n/a	n/a
48	MAX	chr8:110656196-110656633	H1-hESC	embryonic stem cell:	n/a	chr8:110656320-110656329
49	MAX	chr8:110656084-110657787	ECC-1	luminal epithelium:	n/a	chr8:110657086-110657097 chr8:110657087-110657096 chr8:110657086-110657096 chr8:110657086-110657096 chr8:110656320-110656329
50	MAX	chr8:110656002-110657315	Hela-S3	cervix:	n/a	chr8:110657086-110657097 chr8:110657087-110657096 chr8:110657086-110657096 chr8:110657086-110657096 chr8:110656320-110656329

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:110656245-110656295	GM06990	blood:	n/a
2	chr8:110656245-110656295	HCF	heart:	n/a
3	chr8:110656245-110656295	HAEpiC	amniotic membrane:	n/a
4	chr8:110656245-110656295	GM12878	blood:	n/a
5	chr8:110656245-110656295	U87	brain:	n/a
6	chr8:110656245-110656295	IMR90	lung:	fetal
7	chr8:110656245-110656295	A549	lung:	n/a
8	chr8:110656245-110656295	MCF10A-Er-Src	breast:	n/a
9	chr8:110656245-110656295	GM12891	blood:	n/a
10	chr8:110656245-110656295	GM12892	blood:	n/a
11	chr8:110656245-110656295	HL-60	blood:	n/a
12	chr8:110656245-110656295	Caco-2	colon:	n/a
13	chr8:110656245-110656295	AG04450	lung:	fetal
14	chr8:110656245-110656295	SKMC	muscle:	n/a
15	chr8:110656245-110656295	HRCEpiC	kidney:	n/a
16	chr8:110656245-110656295	BJ	skin:	n/a
17	chr8:110656245-110656295	HepG2	liver:	n/a
18	chr8:110656245-110656295	HUVEC	blood vessel:	n/a
19	chr8:110656245-110656295	SAEC	small airway:	n/a
20	chr8:110656245-110656295	PrEC	prostate:	n/a
21	chr8:110656245-110656295	PFSK-1	brain:	n/a
22	chr8:110656245-110656295	HRE	kidney:	n/a
23	chr8:110656245-110656295	AoSMC	blood vessel:	n/a
24	chr8:110656245-110656295	MCF-7	breast:	n/a
25	chr8:110656245-110656295	ProgFib	skin:	n/a
26	chr8:110656245-110656295	SK-N-MC	brain:	n/a
27	chr8:110656245-110656295	Hela-S3	cervix:	n/a
28	chr8:110656245-110656295	RPTEC	kidney:	n/a
29	chr8:110656245-110656295	NHDF-neo	bronchial:	n/a
30	chr8:110656245-110656295	NHBE	bronchial:	n/a
31	chr8:110656245-110656295	HNPCEpiC	eye:	n/a
32	chr8:110656245-110656295	NH-A	brain:	n/a
33	chr8:110656245-110656295	HIPEpiC	eye:	n/a
34	chr8:110656245-110656295	AG04449	skin:	fetal
35	chr8:110656245-110656295	CMK	blood:	n/a
36	chr8:110656245-110656295	HRPEpiC	eye:	n/a
37	chr8:110656245-110656295	SK-N-SH	brain:	n/a
38	chr8:110656245-110656295	H1-hESC	embryonic stem cell:	embryo
39	chr8:110656245-110656295	HCPEpiC	choroid plexus:	n/a
40	chr8:110656245-110656295	HEK293	kidney:	embryo
41	chr8:110656245-110656295	NT2-D1	testis:	n/a
42	chr8:110656245-110656295	Jurkat	blood:	n/a
43	chr8:110656245-110656295	PANC-1	pancreas:	n/a
44	chr8:110656245-110656295	Hepatocyte	liver:	n/a
45	chr8:110656245-110656295	HMEC	breast:	n/a
46	chr8:110656245-110656295	AG09309	skin:	n/a
47	chr8:110656245-110656295	LNCaP	prostate:	n/a
48	chr8:110656245-110656295	HPAEpiC	pulmonary alveolar:	n/a
49	chr8:110656245-110656295	HCM	heart:	n/a
50	chr8:110656245-110656295	GM19239	blood:	n/a

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	chr8:110656100..110658662-chr8:110702004..110704480,2	MCF-7	breast:
6	chr8:110550854..110555574-chr8:110655521..110658971,8	MCF-7	breast:
7	chr8:110550857..110553602-chr8:110653501..110657228,5	K562	blood:

Variant related genes	Relation type
ENSG00000248050	TF binding region
SYBU	TF binding region
ENSG00000248050	CpG island
SYBU	CpG island
ENSG00000147642	Chromatin interaction
ENSG00000120533	Chromatin interaction
ENSG00000120526	Chromatin interaction
ENSG00000147654	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10092211	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10098728	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10106169	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10106568	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10106809	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11988264	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16879862	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16879869	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16879889	1.00[ASN][1000 genomes]
rs16879903	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16879906	1.00[ASN][1000 genomes]
rs28404625	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28465493	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28636990	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28726128	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4313130	1.00[ASN][1000 genomes]
rs4506181	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56384256	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56838167	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs57167766	1.00[ASN][1000 genomes]
rs57285880	1.00[ASN][1000 genomes]
rs58404081	1.00[ASN][1000 genomes]
rs58910462	1.00[ASN][1000 genomes]
rs59161508	1.00[ASN][1000 genomes]
rs59892422	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59981669	0.81[ASN][1000 genomes]
rs60841208	1.00[ASN][1000 genomes]
rs61437630	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61702273	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6469277	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6987830	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7011702	0.96[AFR][1000 genomes];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];1.00[ASN][1000 genomes]
rs73321006	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73321029	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7817773	1.00[ASN][1000 genomes]
rs7824472	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7825942	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7841022	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7842227	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7843208	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9297431	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:110654800-110656400	Active TSS	GM12878-XiMat	blood
2	chr8:110654800-110661200	Active TSS	Brain Inferior Temporal Lobe	brain
3	chr8:110655000-110656800	Flanking Active TSS	K562	blood
4	chr8:110655000-110657600	Active TSS	Brain Anterior Caudate	brain
5	chr8:110655000-110657800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
6	chr8:110655200-110656800	Flanking Active TSS	Adipose Nuclei	Adipose
7	chr8:110655200-110657800	Active TSS	Pancreas	Pancrea
8	chr8:110655200-110661200	Active TSS	Brain Angular Gyrus	brain
9	chr8:110655400-110656400	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr8:110655400-110656400	Bivalent/Poised TSS	NHLF	lung
11	chr8:110655400-110657200	Active TSS	Liver	Liver
12	chr8:110655400-110658000	Active TSS	Duodenum Smooth Muscle	Duodenum
13	chr8:110655400-110658000	Active TSS	Pancreatic Islets	Pancreatic Islet
14	chr8:110655600-110656800	Flanking Active TSS	Duodenum Mucosa	Duodenum
15	chr8:110655600-110656800	Bivalent/Poised TSS	NHDF-Ad	bronchial
16	chr8:110655600-110657400	Active TSS	Brain Cingulate Gyrus	brain
17	chr8:110655600-110657600	Active TSS	Breast Myoepithelial Primary Cells	Breast
18	chr8:110655600-110658000	Active TSS	Right Atrium	heart
19	chr8:110655800-110656400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr8:110655800-110656600	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
21	chr8:110655800-110656800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr8:110655800-110657800	Active TSS	Colon Smooth Muscle	Colon
23	chr8:110655800-110659400	Active TSS	Brain Hippocampus Middle	brain
24	chr8:110656000-110656400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
25	chr8:110656000-110656400	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
26	chr8:110656000-110656400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
27	chr8:110656000-110656400	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
28	chr8:110656000-110656400	Flanking Active TSS	Brain Substantia Nigra	brain
29	chr8:110656000-110656400	Active TSS	Esophagus	oesophagus
30	chr8:110656000-110656400	Flanking Active TSS	Fetal Intestine Small	intestine
31	chr8:110656000-110656400	Bivalent Enhancer	Fetal Lung	lung
32	chr8:110656000-110656400	Active TSS	Left Ventricle	heart
33	chr8:110656000-110656400	Active TSS	Lung	lung
34	chr8:110656000-110656400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
35	chr8:110656000-110656400	Bivalent Enhancer	NH-A	brain
36	chr8:110656000-110656600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
37	chr8:110656000-110656600	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
38	chr8:110656000-110656600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr8:110656000-110656600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr8:110656000-110656600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr8:110656000-110656600	Flanking Bivalent TSS/Enh	Sigmoid Colon	Sigmoid Colon
42	chr8:110656000-110656600	Bivalent/Poised TSS	Small Intestine	intestine
43	chr8:110656000-110656800	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
44	chr8:110656000-110656800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr8:110656000-110656800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr8:110656000-110656800	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
47	chr8:110656000-110656800	Flanking Active TSS	Fetal Brain Male	brain
48	chr8:110656000-110656800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
49	chr8:110656000-110657000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr8:110656000-110657200	Active TSS	Colonic Mucosa	Colon

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