Variant report

Variant	rs10108031
Chromosome Location	chr8:118533066-118533067
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:364)
CpG islands
(count:61)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:364 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	YY1	chr8:118532789-118533389	GM12892	blood:	n/a	chr8:118532999-118533008
2	ZNF143	chr8:118532568-118533359	K562	blood:	n/a	n/a
3	POLR2A	chr8:118532711-118533471	MCF-7	breast:	n/a	n/a
4	RUNX3	chr8:118532514-118533317	GM12878	blood:	n/a	n/a
5	POLR2A	chr8:118532760-118533474	H1-neurons	neurons:	n/a	n/a
6	ELF1	chr8:118532655-118533330	HepG2	liver:	n/a	n/a
7	SP1	chr8:118532569-118533220	H1-hESC	embryonic stem cell:	n/a	n/a
8	GABPA	chr8:118532608-118533314	Hela-S3	cervix:	n/a	n/a
9	EGR1	chr8:118532713-118533074	K562	blood:	n/a	chr8:118532925-118532932
10	POLR2A	chr8:118532538-118533438	Hela-S3	cervix:	n/a	n/a
11	CTBP2	chr8:118532788-118533346	H1-hESC	embryonic stem cell:	n/a	n/a
12	ZNF143	chr8:118532578-118533399	H1-hESC	embryonic stem cell:	n/a	n/a
13	MAX	chr8:118533062-118533317	K562	blood:	n/a	n/a
14	ZEB1	chr8:118532979-118533380	GM12878	blood:	n/a	n/a
15	KAP1	chr8:118532668-118533439	HEK293	kidney:	n/a	n/a
16	CHD2	chr8:118532554-118533377	GM12878	blood:	n/a	n/a
17	CEBPB	chr8:118532746-118533319	HepG2	liver:	n/a	chr8:118532839-118532847
18	YY1	chr8:118532881-118533351	GM12878	blood:	n/a	chr8:118532999-118533008
19	EP300	chr8:118532946-118533178	GM12878	blood:	n/a	n/a
20	MAX	chr8:118532693-118533460	H1-hESC	embryonic stem cell:	n/a	n/a
21	POLR2A	chr8:118532508-118533182	U87	brain:	n/a	n/a
22	FOXA1	chr8:118532900-118533376	HepG2	liver:	n/a	n/a
23	MAZ	chr8:118532531-118533316	HepG2	liver:	n/a	n/a
24	CREB1	chr8:118532460-118533579	GM12878	blood:	n/a	n/a
25	GABPA	chr8:118532513-118533377	SK-N-SH	brain:	n/a	n/a
26	POLR2A	chr8:118532950-118533328	H1-hESC	embryonic stem cell:	n/a	n/a
27	E2F6	chr8:118532548-118533547	H1-hESC	embryonic stem cell:	n/a	chr8:118532865-118532872 chr8:118532839-118532848 chr8:118532865-118532872 chr8:118532865-118532872 chr8:118532863-118532874 chr8:118532864-118532876
28	ELF1	chr8:118532643-118533322	HepG2	liver:	n/a	n/a
29	FOXA1	chr8:118532920-118533446	HepG2	liver:	n/a	n/a
30	GABPA	chr8:118532747-118533282	HepG2	liver:	n/a	n/a
31	ATF1	chr8:118532540-118533239	K562	blood:	n/a	n/a
32	SP4	chr8:118532651-118533185	H1-hESC	embryonic stem cell:	n/a	chr8:118532919-118532935
33	RCOR1	chr8:118532514-118533689	K562	blood:	n/a	n/a
34	SMARCB1	chr8:118532799-118533557	Hela-S3	cervix:	n/a	n/a
35	GABPA	chr8:118532662-118533466	K562	blood:	n/a	n/a
36	CTCF	chr8:118533040-118533190	GM12868	blood:	n/a	chr8:118533073-118533081
37	SP4	chr8:118532763-118533264	H1-hESC	embryonic stem cell:	n/a	chr8:118532919-118532935
38	POLR2A	chr8:118532923-118533251	H1-hESC	embryonic stem cell:	n/a	n/a
39	MAX	chr8:118532613-118533423	NB4	blood:	n/a	n/a
40	ELF1	chr8:118532704-118533362	SK-N-SH	brain:	n/a	n/a
41	TBP	chr8:118532624-118533328	H1-hESC	embryonic stem cell:	n/a	n/a
42	POLR2A	chr8:118532541-118533500	HL-60	blood:	n/a	n/a
43	SP1	chr8:118532547-118533080	HepG2	liver:	n/a	n/a
44	STAT3	chr8:118532672-118533137	MCF10A-Er-Src	breast:	n/a	n/a
45	STAT3	chr8:118532813-118533135	MCF10A-Er-Src	breast:	n/a	n/a
46	CTCF	chr8:118532572-118533246	K562	blood:	n/a	chr8:118533073-118533081
47	POLR2A	chr8:118532594-118533317	K562	blood:	n/a	n/a
48	E2F6	chr8:118532573-118533466	K562	blood:	n/a	chr8:118532865-118532872 chr8:118532839-118532848 chr8:118532865-118532872 chr8:118532865-118532872 chr8:118532863-118532874 chr8:118532864-118532876
49	MTA3	chr8:118532458-118533598	GM12878	blood:	n/a	n/a
50	ZNF143	chr8:118532709-118533633	Hela-S3	cervix:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:118533030-118533080	AG09319	gingival:	n/a
2	chr8:118533030-118533080	NB4	blood:	n/a
3	chr8:118533030-118533080	HRCEpiC	kidney:	n/a
4	chr8:118533030-118533080	HCM	heart:	n/a
5	chr8:118533030-118533080	HUVEC	blood vessel:	n/a
6	chr8:118533030-118533080	NH-A	brain:	n/a
7	chr8:118533030-118533080	LNCaP	prostate:	n/a
8	chr8:118533030-118533080	T-47D	breast:	n/a
9	chr8:118533030-118533080	Caco-2	colon:	n/a
10	chr8:118533030-118533080	RPTEC	kidney:	n/a
11	chr8:118533030-118533080	GM06990	blood:	n/a
12	chr8:118533030-118533080	HPAEpiC	pulmonary alveolar:	n/a
13	chr8:118533030-118533080	AoSMC	blood vessel:	n/a
14	chr8:118533030-118533080	HEEpiC	esophagus:	n/a
15	chr8:118533030-118533080	Hela-S3	cervix:	n/a
16	chr8:118533030-118533080	HMEC	breast:	n/a
17	chr8:118533030-118533080	IMR90	lung:	fetal
18	chr8:118533030-118533080	SAEC	small airway:	n/a
19	chr8:118533030-118533080	H1-hESC	embryonic stem cell:	embryo
20	chr8:118533030-118533080	HL-60	blood:	n/a
21	chr8:118533030-118533080	A549	lung:	n/a
22	chr8:118533030-118533080	U87	brain:	n/a
23	chr8:118533030-118533080	SKMC	muscle:	n/a
24	chr8:118533030-118533080	HIPEpiC	eye:	n/a
25	chr8:118533030-118533080	HAEpiC	amniotic membrane:	n/a
26	chr8:118533030-118533080	GM12891	blood:	n/a
27	chr8:118533030-118533080	ProgFib	skin:	n/a
28	chr8:118533030-118533080	PFSK-1	brain:	n/a
29	chr8:118533030-118533080	GM12878	blood:	n/a
30	chr8:118533030-118533080	AG10803	skin:	n/a
31	chr8:118533030-118533080	HEK293	kidney:	embryo
32	chr8:118533030-118533080	ovcar-3	ovarian:	n/a
33	chr8:118533030-118533080	SK-N-SH	brain:	n/a
34	chr8:118533030-118533080	HCF	heart:	n/a
35	chr8:118533030-118533080	HNPCEpiC	eye:	n/a
36	chr8:118533030-118533080	ECC-1	luminal epithelium:	n/a
37	chr8:118533030-118533080	SK-N-SH_RA	brain:	n/a
38	chr8:118533030-118533080	BE2_C	brain:	n/a
39	chr8:118533030-118533080	AG09309	skin:	n/a
40	chr8:118533030-118533080	NT2-D1	testis:	n/a
41	chr8:118533030-118533080	NHBE	bronchial:	n/a
42	chr8:118533030-118533080	MCF-7	breast:	n/a
43	chr8:118533030-118533080	AG04450	lung:	fetal
44	chr8:118533030-118533080	NHDF-neo	bronchial:	n/a
45	chr8:118533030-118533080	HepG2	liver:	n/a
46	chr8:118533030-118533080	GM12892	blood:	n/a
47	chr8:118533030-118533080	HCT-116	colon:	n/a
48	chr8:118533030-118533080	MCF10A-Er-Src	breast:	n/a
49	chr8:118533030-118533080	PANC-1	pancreas:	n/a
50	chr8:118533030-118533080	HRPEpiC	eye:	n/a

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:43784937..43785713-chr8:118532588..118533360,2	Hela-S3	cervix:
2	chr1:10003043..10003645-chr8:118532895..118533881,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
MED30	TF binding region
MED30	CpG island
ENSG00000067369	Chromatin interaction
ENSG00000173614	Chromatin interaction
ENSG00000162441	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs10102741	0.90[AFR][1000 genomes]
rs10108028	0.98[AFR][1000 genomes]
rs28673494	0.98[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428525	chr8:118384428-118543349	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv831436	chr8:118384463-118543297	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:118531800-118533400	Active TSS	Adipose Nuclei	Adipose
2	chr8:118532000-118533200	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr8:118532000-118533600	Active TSS	Primary T helper naive cells from peripheral blood	blood
4	chr8:118532000-118533800	Active TSS	Duodenum Mucosa	Duodenum
5	chr8:118532000-118533800	Active TSS	Rectal Mucosa Donor 31	rectum
6	chr8:118532000-118534000	Active TSS	Breast Myoepithelial Primary Cells	Breast
7	chr8:118532000-118534400	Active TSS	Brain Anterior Caudate	brain
8	chr8:118532000-118534400	Active TSS	Rectal Mucosa Donor 29	rectum
9	chr8:118532200-118533200	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr8:118532200-118533200	Active TSS	Colonic Mucosa	Colon
11	chr8:118532200-118533200	Active TSS	Thymus	Thymus
12	chr8:118532200-118533400	Active TSS	Primary T helper cells fromperipheralblood	blood
13	chr8:118532200-118533400	Active TSS	Placenta	Placenta
14	chr8:118532200-118533600	Active TSS	Primary monocytes fromperipheralblood	blood
15	chr8:118532200-118533600	Active TSS	Primary T cells from cord blood	blood
16	chr8:118532200-118533600	Active TSS	Primary T helper cells PMA-I stimulated	--
17	chr8:118532200-118533600	Active TSS	Brain Germinal Matrix	brain
18	chr8:118532200-118533800	Active TSS	Primary hematopoietic stem cells short term culture	blood
19	chr8:118532200-118533800	Active TSS	Primary T killer memory cells from peripheral blood	blood
20	chr8:118532200-118533800	Active TSS	Fetal Intestine Small	intestine
21	chr8:118532200-118533800	Active TSS	Skeletal Muscle Female	skeletal muscle
22	chr8:118532200-118534000	Active TSS	iPS-15b Cell Line	embryonic stem cell
23	chr8:118532200-118534000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr8:118532200-118534000	Active TSS	Fetal Intestine Large	intestine
25	chr8:118532200-118534000	Active TSS	Ovary	ovary
26	chr8:118532200-118534200	Active TSS	Psoas Muscle	Psoas
27	chr8:118532200-118534400	Active TSS	Rectal Smooth Muscle	rectum
28	chr8:118532200-118534400	Active TSS	Stomach Smooth Muscle	stomach
29	chr8:118532200-118535200	Active TSS	K562	blood
30	chr8:118532400-118533200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr8:118532400-118533400	Active TSS	Primary B cells from peripheral blood	blood
32	chr8:118532400-118533400	Active TSS	Liver	Liver
33	chr8:118532400-118533600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr8:118532400-118533600	Active TSS	iPS-20b Cell Line	embryonic stem cell
35	chr8:118532400-118533600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr8:118532400-118533600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
37	chr8:118532400-118533600	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
38	chr8:118532400-118533600	Active TSS	Primary T killer naive cells fromperipheralblood	blood
39	chr8:118532400-118533600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr8:118532400-118533600	Active TSS	Brain Angular Gyrus	brain
41	chr8:118532400-118533600	Active TSS	Duodenum Smooth Muscle	Duodenum
42	chr8:118532400-118533600	Active TSS	Esophagus	oesophagus
43	chr8:118532400-118533600	Active TSS	Fetal Adrenal Gland	Adrenal Gland
44	chr8:118532400-118533600	Active TSS	Gastric	stomach
45	chr8:118532400-118533600	Active TSS	Lung	lung
46	chr8:118532400-118533600	Active TSS	Pancreas	Pancrea
47	chr8:118532400-118533600	Active TSS	Sigmoid Colon	Sigmoid Colon
48	chr8:118532400-118533600	Active TSS	Small Intestine	intestine
49	chr8:118532400-118533600	Active TSS	Osteobl	bone
50	chr8:118532400-118533800	Active TSS	ES-WA7 Cell Line	embryonic stem cell

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