Variant report

Variant	rs878684
Chromosome Location	chr8:125740899-125740900
allele	A/G
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	POLR2A	chr8:125740449-125741162	HUVEC	blood vessel:	n/a	n/a
2	CTCF	chr8:125740840-125740990	HMEC	breast:	n/a	n/a
3	POLR2A	chr8:125740537-125741079	HepG2	liver:	n/a	n/a
4	BACH1	chr8:125740047-125741191	H1-hESC	embryonic stem cell:	n/a	n/a
5	CTCF	chr8:125740895-125740978	Kidney_OC	kidney:	n/a	n/a
6	SIN3A	chr8:125739309-125741352	H1-hESC	embryonic stem cell:	n/a	chr8:125741048-125741061 chr8:125740991-125741004 chr8:125740539-125740552
7	CTCF	chr8:125740800-125740950	AoAF	blood vessel:	n/a	n/a
8	CTCF	chr8:125740820-125740970	SK-N-SH_RA	brain:	n/a	n/a
9	E2F6	chr8:125740690-125741314	H1-hESC	embryonic stem cell:	n/a	chr8:125741114-125741129 chr8:125741114-125741126 chr8:125741118-125741125 chr8:125741118-125741125 chr8:125741118-125741125 chr8:125740764-125740775 chr8:125740890-125740900 chr8:125740743-125740752
10	POLR2A	chr8:125740422-125740960	HUVEC	blood vessel:	n/a	n/a
11	MAX	chr8:125740751-125740962	H1-hESC	embryonic stem cell:	n/a	chr8:125740946-125740956 chr8:125740843-125740852
12	CTCF	chr8:125740820-125740970	HUVEC	blood vessel:	n/a	n/a
13	MYC	chr8:125740766-125740966	NB4	blood:	n/a	chr8:125740946-125740956 chr8:125740843-125740852
14	RCOR1	chr8:125740692-125741122	HepG2	liver:	n/a	n/a
15	MAZ	chr8:125740584-125740981	HepG2	liver:	n/a	chr8:125740946-125740956 chr8:125740843-125740852
16	REST	chr8:125738109-125741429	H1-neurons	neurons:	n/a	chr8:125741409-125741422 chr8:125740533-125740546 chr8:125738597-125738606 chr8:125741049-125741059 chr8:125739960-125739970 chr8:125741402-125741422 chr8:125740962-125740975 chr8:125740324-125740337 chr8:125740539-125740552 chr8:125739947-125739960 chr8:125741402-125741422
17	POLR2A	chr8:125740789-125740931	A549	lung:	n/a	n/a
18	TAF1	chr8:125740512-125741002	ECC-1	luminal epithelium:	n/a	n/a
19	POLR2A	chr8:125740559-125741014	A549	lung:	n/a	n/a
20	HDAC2	chr8:125738757-125741344	MCF-7	breast:	n/a	chr8:125740744-125740753 chr8:125740750-125740759 chr8:125740748-125740757 chr8:125741022-125741031
21	EP300	chr8:125740641-125740992	HepG2	liver:	n/a	chr8:125740950-125740966 chr8:125740663-125740672
22	POLR2A	chr8:125740607-125741044	MCF-7	breast:	n/a	n/a
23	MXI1	chr8:125740526-125741092	HepG2	liver:	n/a	n/a
24	POLR2A	chr8:125739794-125741193	HUVEC	blood vessel:	n/a	n/a
25	HEY1	chr8:125740803-125740959	HepG2	liver:	n/a	n/a
26	RAD21	chr8:125740528-125740966	HepG2	liver:	n/a	chr8:125740536-125740549 chr8:125740658-125740671
27	POLR2A	chr8:125740805-125741191	U87	brain:	n/a	n/a
28	MAX	chr8:125740733-125740983	NB4	blood:	n/a	chr8:125740946-125740956 chr8:125740843-125740852
29	POLR2A	chr8:125740355-125740932	HUVEC	blood vessel:	n/a	n/a
30	NRF1	chr8:125740530-125741046	SK-N-SH	brain:	n/a	chr8:125740742-125740756 chr8:125740742-125740753
31	E2F6	chr8:125740644-125741263	A549	lung:	n/a	chr8:125741114-125741129 chr8:125741114-125741126 chr8:125741118-125741125 chr8:125741118-125741125 chr8:125741118-125741125 chr8:125740764-125740775 chr8:125740890-125740900 chr8:125740743-125740752
32	MAX	chr8:125740628-125741240	ECC-1	luminal epithelium:	n/a	chr8:125740946-125740956 chr8:125740843-125740852
33	POLR2A	chr8:125740392-125741061	HUVEC	blood vessel:	n/a	n/a
34	MAX	chr8:125739934-125741301	ECC-1	luminal epithelium:	n/a	chr8:125740946-125740956 chr8:125740843-125740852
35	POLR2A	chr8:125740803-125741215	H1-hESC	embryonic stem cell:	n/a	n/a
36	MAX	chr8:125740642-125741296	H1-hESC	embryonic stem cell:	n/a	chr8:125740946-125740956 chr8:125740843-125740852
37	RAD21	chr8:125739917-125740959	IMR90	lung:	n/a	chr8:125740536-125740549 chr8:125739997-125740011 chr8:125740658-125740671
38	POLR2A	chr8:125739992-125741108	H1-neurons	neurons:	n/a	n/a
39	YY1	chr8:125740605-125740963	HCT-116	colon:	n/a	chr8:125740660-125740674 chr8:125740657-125740671 chr8:125740890-125740904 chr8:125740665-125740674
40	TAF1	chr8:125740579-125741110	HepG2	liver:	n/a	n/a
41	MAX	chr8:125740590-125741301	H1-hESC	embryonic stem cell:	n/a	chr8:125740946-125740956 chr8:125740843-125740852
42	POLR2A	chr8:125739888-125741069	HepG2	liver:	n/a	n/a
43	MAX	chr8:125738500-125741289	MCF-7	breast:	n/a	chr8:125740946-125740956 chr8:125740843-125740852
44	GABPA	chr8:125740586-125740997	H1-hESC	embryonic stem cell:	n/a	chr8:125740742-125740756 chr8:125740742-125740753
45	TAF1	chr8:125740553-125740938	H1-hESC	embryonic stem cell:	n/a	n/a
46	E2F6	chr8:125740616-125741468	H1-hESC	embryonic stem cell:	n/a	chr8:125741114-125741129 chr8:125741114-125741126 chr8:125741118-125741125 chr8:125741118-125741125 chr8:125741118-125741125 chr8:125740764-125740775 chr8:125740890-125740900 chr8:125740743-125740752
47	MYC	chr8:125740700-125740933	HepG2	liver:	n/a	chr8:125740843-125740852
48	HDAC2	chr8:125740487-125741068	HepG2	liver:	n/a	chr8:125740744-125740753 chr8:125740750-125740759 chr8:125740748-125740757 chr8:125741022-125741031
49	GATA1	chr8:125740033-125740900	PBDE	blood:	n/a	chr8:125740388-125740396
50	POLR2A	chr8:125740588-125741092	HepG2	liver:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:125740895-125740945	ECC-1	luminal epithelium:	n/a
2	chr8:125740895-125740945	CMK	blood:	n/a
3	chr8:125740895-125740945	NT2-D1	testis:	n/a
4	chr8:125740895-125740945	H1-hESC	embryonic stem cell:	embryo
5	chr8:125740895-125740945	PANC-1	pancreas:	n/a
6	chr8:125740895-125740945	HCPEpiC	choroid plexus:	n/a
7	chr8:125740895-125740945	AG04450	lung:	fetal
8	chr8:125740895-125740945	SK-N-SH	brain:	n/a
9	chr8:125740895-125740945	A549	lung:	n/a
10	chr8:125740895-125740945	T-47D	breast:	n/a
11	chr8:125740895-125740945	HMEC	breast:	n/a
12	chr8:125740895-125740945	AG09319	gingival:	n/a
13	chr8:125740895-125740945	AG10803	skin:	n/a
14	chr8:125740895-125740945	Hela-S3	cervix:	n/a
15	chr8:125740895-125740945	BJ	skin:	n/a
16	chr8:125740895-125740945	GM19239	blood:	n/a
17	chr8:125740895-125740945	NB4	blood:	n/a
18	chr8:125740895-125740945	Caco-2	colon:	n/a
19	chr8:125740895-125740945	U87	brain:	n/a
20	chr8:125740895-125740945	NHBE	bronchial:	n/a
21	chr8:125740895-125740945	AG04449	skin:	fetal
22	chr8:125740895-125740945	SK-N-MC	brain:	n/a
23	chr8:125740895-125740945	SKMC	muscle:	n/a
24	chr8:125740895-125740945	HL-60	blood:	n/a
25	chr8:125740895-125740945	K562	blood:	n/a
26	chr8:125740895-125740945	NH-A	brain:	n/a
27	chr8:125740895-125740945	HCF	heart:	n/a
28	chr8:125740895-125740945	HAEpiC	amniotic membrane:	n/a
29	chr8:125740895-125740945	RPTEC	kidney:	n/a
30	chr8:125740895-125740945	HNPCEpiC	eye:	n/a
31	chr8:125740895-125740945	HEK293	kidney:	embryo
32	chr8:125740895-125740945	ovcar-3	ovarian:	n/a
33	chr8:125740895-125740945	LNCaP	prostate:	n/a
34	chr8:125740895-125740945	HIPEpiC	eye:	n/a
35	chr8:125740895-125740945	HCT-116	colon:	n/a
36	chr8:125740895-125740945	HEEpiC	esophagus:	n/a
37	chr8:125740895-125740945	AoSMC	blood vessel:	n/a
38	chr8:125740895-125740945	MCF10A-Er-Src	breast:	n/a
39	chr8:125740895-125740945	GM06990	blood:	n/a
40	chr8:125740895-125740945	HRPEpiC	eye:	n/a
41	chr8:125740895-125740945	HCM	heart:	n/a
42	chr8:125740895-125740945	AG09309	skin:	n/a
43	chr8:125740895-125740945	GM12891	blood:	n/a
44	chr8:125740895-125740945	HepG2	liver:	n/a
45	chr8:125740895-125740945	GM12892	blood:	n/a
46	chr8:125740895-125740945	GM12878	blood:	n/a
47	chr8:125740895-125740945	HUVEC	blood vessel:	n/a
48	chr8:125740895-125740945	IMR90	lung:	fetal
49	chr8:125740895-125740945	SAEC	small airway:	n/a
50	chr8:125740895-125740945	PrEC	prostate:	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:125734815..125743876-chr8:125864194..125871100,21	MCF-7	breast:
2	chr8:125740480..125742026-chr8:125858931..125861971,3	MCF-7	breast:
3	chr8:125736316..125742243-chr8:125861977..125870763,24	MCF-7	breast:
4	chr8:125550912..125552543-chr8:125740144..125742250,2	MCF-7	breast:
5	chr8:125739556..125742250-chr8:125984221..125986060,3	MCF-7	breast:
6	chr8:125549831..125551409-chr8:125739286..125741874,2	MCF-7	breast:

Variant related genes	Relation type
MTSS1	TF binding region
MTSS1	CpG island
ENSG00000249816	Chromatin interaction
ENSG00000147684	Chromatin interaction
ENSG00000255080	Chromatin interaction
ENSG00000147687	Chromatin interaction
ENSG00000180938	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs12547578	0.95[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1430850	0.95[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1430852	0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1430853	0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1978661	0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2288665	0.85[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4870919	0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs4870920	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs6470261	0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs6470262	0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs6470263	0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs6993178	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs729513	0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7824588	0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7833290	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7842864	0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs891541	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891434	chr8:125630655-126324432	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv1016502	chr8:125657664-125845074	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
3	nsv612147	chr8:125733120-125751065	Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125737200-125741400	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr8:125737200-125741600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr8:125737800-125741200	Active TSS	Right Atrium	heart
4	chr8:125738000-125741400	Active TSS	Breast Myoepithelial Primary Cells	Breast
5	chr8:125738200-125741000	Active TSS	Right Ventricle	heart
6	chr8:125738200-125741200	Active TSS	Aorta	Aorta
7	chr8:125738200-125741400	Active TSS	Duodenum Smooth Muscle	Duodenum
8	chr8:125738200-125741400	Active TSS	NHLF	lung
9	chr8:125738400-125741200	Active TSS	Gastric	stomach
10	chr8:125738400-125741400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr8:125738600-125741200	Active TSS	Lung	lung
12	chr8:125738600-125741400	Active TSS	Brain Cingulate Gyrus	brain
13	chr8:125738800-125741000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr8:125738800-125741000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr8:125738800-125741000	Active TSS	NHDF-Ad	bronchial
16	chr8:125738800-125741200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr8:125738800-125741200	Flanking Active TSS	Primary hematopoietic stem cells	blood
18	chr8:125738800-125741200	Active TSS	Brain Inferior Temporal Lobe	brain
19	chr8:125738800-125741200	Active TSS	Fetal Heart	heart
20	chr8:125738800-125741200	Active TSS	Fetal Intestine Small	intestine
21	chr8:125738800-125741200	Active TSS	Left Ventricle	heart
22	chr8:125738800-125741200	Active TSS	Ovary	ovary
23	chr8:125738800-125741200	Active TSS	Psoas Muscle	Psoas
24	chr8:125738800-125741200	Active TSS	Rectal Mucosa Donor 31	rectum
25	chr8:125738800-125741400	Active TSS	Brain Angular Gyrus	brain
26	chr8:125738800-125741400	Active TSS	Fetal Intestine Large	intestine
27	chr8:125738800-125741400	Active TSS	Rectal Mucosa Donor 29	rectum
28	chr8:125738800-125741400	Active TSS	HSMM	muscle
29	chr8:125739000-125741000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr8:125739000-125741000	Active TSS	Sigmoid Colon	Sigmoid Colon
31	chr8:125739000-125741000	Active TSS	Skeletal Muscle Male	skeletal muscle
32	chr8:125739000-125741000	Active TSS	HUVEC	blood vessel
33	chr8:125739000-125741200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr8:125739000-125741200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
35	chr8:125739000-125741200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
36	chr8:125739000-125741200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr8:125739000-125741200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr8:125739000-125741200	Active TSS	Muscle Satellite Cultured Cells	--
39	chr8:125739000-125741200	Active TSS	Esophagus	oesophagus
40	chr8:125739000-125741200	Active TSS	Stomach Mucosa	stomach
41	chr8:125739000-125741200	Active TSS	HSMMtube	muscle
42	chr8:125739000-125741400	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
43	chr8:125739000-125741400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
44	chr8:125739000-125741400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr8:125739000-125741400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
46	chr8:125739000-125741400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
47	chr8:125739000-125741400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
48	chr8:125739000-125741400	Active TSS	Brain Anterior Caudate	brain
49	chr8:125739000-125741400	Active TSS	Brain Substantia Nigra	brain
50	chr8:125739000-125741400	Active TSS	Colon Smooth Muscle	Colon

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