Variant report

Variant	rs10956186
Chromosome Location	chr8:125495850-125495851
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:61)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr8:125495750-125495962	MCF-7	breast:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:125495822-125495872	BE2_C	brain:	n/a
2	chr8:125495822-125495872	NHDF-neo	bronchial:	n/a
3	chr8:125495822-125495872	PFSK-1	brain:	n/a
4	chr8:125495822-125495872	CMK	blood:	n/a
5	chr8:125495822-125495872	NB4	blood:	n/a
6	chr8:125495822-125495872	AG09319	gingival:	n/a
7	chr8:125495822-125495872	HepG2	liver:	n/a
8	chr8:125495822-125495872	GM06990	blood:	n/a
9	chr8:125495822-125495872	SK-N-MC	brain:	n/a
10	chr8:125495822-125495872	HCPEpiC	choroid plexus:	n/a
11	chr8:125495822-125495872	MCF-7	breast:	n/a
12	chr8:125495822-125495872	AG10803	skin:	n/a
13	chr8:125495822-125495872	BJ	skin:	n/a
14	chr8:125495822-125495872	HCM	heart:	n/a
15	chr8:125495822-125495872	GM12878	blood:	n/a
16	chr8:125495822-125495872	HAEpiC	amniotic membrane:	n/a
17	chr8:125495822-125495872	RPTEC	kidney:	n/a
18	chr8:125495822-125495872	K562	blood:	n/a
19	chr8:125495822-125495872	HRE	kidney:	n/a
20	chr8:125495822-125495872	Caco-2	colon:	n/a
21	chr8:125495822-125495872	GM12892	blood:	n/a
22	chr8:125495822-125495872	AG09309	skin:	n/a
23	chr8:125495822-125495872	AoSMC	blood vessel:	n/a
24	chr8:125495822-125495872	HEEpiC	esophagus:	n/a
25	chr8:125495822-125495872	AG04450	lung:	fetal
26	chr8:125495822-125495872	LNCaP	prostate:	n/a
27	chr8:125495822-125495872	HUVEC	blood vessel:	n/a
28	chr8:125495822-125495872	NT2-D1	testis:	n/a
29	chr8:125495822-125495872	HMEC	breast:	n/a
30	chr8:125495822-125495872	HRCEpiC	kidney:	n/a
31	chr8:125495822-125495872	SK-N-SH_RA	brain:	n/a
32	chr8:125495822-125495872	HIPEpiC	eye:	n/a
33	chr8:125495822-125495872	ovcar-3	ovarian:	n/a
34	chr8:125495822-125495872	HRPEpiC	eye:	n/a
35	chr8:125495822-125495872	A549	lung:	n/a
36	chr8:125495822-125495872	SKMC	muscle:	n/a
37	chr8:125495822-125495872	ECC-1	luminal epithelium:	n/a
38	chr8:125495822-125495872	HPAEpiC	pulmonary alveolar:	n/a
39	chr8:125495822-125495872	PrEC	prostate:	n/a
40	chr8:125495822-125495872	HL-60	blood:	n/a
41	chr8:125495822-125495872	ProgFib	skin:	n/a
42	chr8:125495822-125495872	T-47D	breast:	n/a
43	chr8:125495822-125495872	H1-hESC	embryonic stem cell:	embryo
44	chr8:125495822-125495872	HNPCEpiC	eye:	n/a
45	chr8:125495822-125495872	IMR90	lung:	fetal
46	chr8:125495822-125495872	NH-A	brain:	n/a
47	chr8:125495822-125495872	GM19239	blood:	n/a
48	chr8:125495822-125495872	AG04449	skin:	fetal
49	chr8:125495822-125495872	Jurkat	blood:	n/a
50	chr8:125495822-125495872	SAEC	small airway:	n/a

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:125495517..125498370-chr8:125499214..125502183,3	MCF-7	breast:
2	chr8:125491802..125498170-chr8:125548148..125552034,10	MCF-7	breast:
3	chr8:125494945..125497543-chr8:125548660..125551608,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000253106	TF binding region
ENSG00000253106	CpG island
ENSG00000147687	Chromatin interaction
ENSG00000147684	Chromatin interaction
ENSG00000253106	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10195	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13253319	0.97[ASN][1000 genomes]
rs16899643	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16899656	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16899660	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17298171	0.86[EUR][1000 genomes]
rs3812470	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3812473	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3829033	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3829037	0.85[ASN][1000 genomes]
rs4330675	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4527852	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4613980	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4621790	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs57929284	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6981043	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6989097	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6997089	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7017148	0.88[ASN][1000 genomes]
rs71516748	0.97[ASN][1000 genomes]
rs72713019	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72713023	0.85[EUR][1000 genomes]
rs72713032	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72713042	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72713045	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72713053	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72713055	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72713059	0.86[EUR][1000 genomes]
rs72713071	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72713073	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72713075	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72713077	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72713084	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72713096	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72713098	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72714708	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73704274	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9643197	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[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	nsv531508	chr8:125390194-125587953	Flanking Active TSS Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
2	nsv891433	chr8:125438093-125498547	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	61 gene(s)	inside rSNPs	diseases
3	esv3329643	chr8:125494521-125496369	Enhancers Weak transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125488000-125503400	Weak transcription	Spleen	Spleen
2	chr8:125488200-125498200	Weak transcription	Esophagus	oesophagus
3	chr8:125488200-125515800	Weak transcription	Lung	lung
4	chr8:125488200-125550400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr8:125489000-125496200	Weak transcription	Colonic Mucosa	Colon
6	chr8:125489000-125497200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
7	chr8:125489000-125498200	Weak transcription	Fetal Muscle Trunk	muscle
8	chr8:125489000-125498200	Weak transcription	Placenta	Placenta
9	chr8:125489000-125501800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr8:125489000-125503400	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr8:125489000-125505800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr8:125489000-125519800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr8:125489000-125531200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr8:125489000-125541200	Weak transcription	Gastric	stomach
15	chr8:125489000-125543400	Weak transcription	Small Intestine	intestine
16	chr8:125489200-125496200	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr8:125489200-125496200	Weak transcription	Fetal Stomach	stomach
18	chr8:125489200-125496400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr8:125489200-125496400	Weak transcription	NH-A	brain
20	chr8:125489200-125497200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
21	chr8:125489200-125498000	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr8:125489200-125498000	Weak transcription	Fetal Muscle Leg	muscle
23	chr8:125489200-125498200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr8:125489200-125498200	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr8:125489200-125498200	Weak transcription	Aorta	Aorta
26	chr8:125489200-125498200	Weak transcription	Right Ventricle	heart
27	chr8:125489200-125498200	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr8:125489200-125498200	Weak transcription	Thymus	Thymus
29	chr8:125489200-125498400	Weak transcription	Fetal Brain Male	brain
30	chr8:125489200-125498600	Weak transcription	A549	lung
31	chr8:125489200-125498600	Weak transcription	HSMMtube	muscle
32	chr8:125489400-125497800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr8:125489400-125498000	Weak transcription	Fetal Kidney	kidney
34	chr8:125489400-125498000	Weak transcription	Stomach Smooth Muscle	stomach
35	chr8:125489400-125498200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr8:125489400-125498200	Weak transcription	HSMM	muscle
37	chr8:125489400-125498400	Weak transcription	NHEK	skin
38	chr8:125489400-125501800	Weak transcription	Fetal Intestine Small	intestine
39	chr8:125489600-125497800	Weak transcription	Primary hematopoietic stem cells	blood
40	chr8:125489600-125498000	Weak transcription	Fetal Intestine Large	intestine
41	chr8:125489600-125498200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr8:125489600-125498200	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr8:125489600-125498200	Weak transcription	HMEC	breast
44	chr8:125489600-125498600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr8:125489800-125496400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr8:125489800-125498000	Weak transcription	Duodenum Mucosa	Duodenum
47	chr8:125490000-125496000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr8:125490000-125496200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr8:125490000-125497200	Enhancers	Primary T helper cells PMA-I stimulated	--
50	chr8:125490000-125498200	Weak transcription	HUVEC	blood vessel

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