Variant report

Variant	rs9987276
Chromosome Location	chr8:8861249-8861250
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:8858968..8861271-chr8:9414006..9415764,2	K562	blood:
2	chr8:8756284..8757870-chr8:8861137..8863458,2	K562	blood:
3	chr8:8860553..8862183-chr8:9011362..9013111,2	K562	blood:
4	chr8:8859472..8863506-chr8:8866779..8870820,4	MCF-7	breast:
5	chr8:8859158..8867027-chr8:8867199..8874373,17	K562	blood:

Variant related genes	Relation type
ENSG00000272267	Chromatin interaction
ENSG00000104626	Chromatin interaction

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs10087416	1.00[CHB][hapmap]
rs10091588	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1036082	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11775788	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11779660	0.96[CEU][hapmap];0.92[EUR][1000 genomes]
rs11780338	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11781203	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11787026	1.00[JPT][hapmap]
rs11990476	0.93[ASN][1000 genomes]
rs11992016	0.93[ASN][1000 genomes]
rs12114954	1.00[JPT][hapmap]
rs12549151	0.81[ASN][1000 genomes]
rs13252797	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1530484	0.92[CEU][hapmap];0.81[EUR][1000 genomes]
rs1594437	0.93[ASN][1000 genomes]
rs17646197	0.80[CEU][hapmap]
rs17701980	1.00[CEU][hapmap];0.80[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17702602	1.00[JPT][hapmap]
rs2043129	0.93[ASN][1000 genomes]
rs2043131	0.80[ASN][1000 genomes]
rs2060045	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs28510464	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28520356	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs28587518	0.93[ASN][1000 genomes]
rs28740848	1.00[ASN][1000 genomes]
rs3827807	1.00[CHB][hapmap]
rs4840381	0.86[ASN][1000 genomes]
rs56349323	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs56400435	0.88[EUR][1000 genomes]
rs57395675	0.93[ASN][1000 genomes]
rs57693332	0.87[ASN][1000 genomes]
rs58594457	0.93[ASN][1000 genomes]
rs59257214	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs59374911	0.93[ASN][1000 genomes]
rs59454995	0.86[ASN][1000 genomes]
rs60274012	0.93[ASN][1000 genomes]
rs62492946	0.81[ASN][1000 genomes]
rs62495491	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs62495539	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6982619	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6983877	1.00[JPT][hapmap]
rs6987569	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6996374	0.81[EUR][1000 genomes]
rs6998594	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7004160	0.86[ASN][1000 genomes]
rs7014430	0.93[ASN][1000 genomes]
rs7014604	0.93[ASN][1000 genomes]
rs7016240	0.93[ASN][1000 genomes]
rs73514373	0.86[ASN][1000 genomes]
rs73518314	0.86[ASN][1000 genomes]
rs73518320	0.86[ASN][1000 genomes]
rs73518392	0.91[EUR][1000 genomes]
rs73522594	0.93[ASN][1000 genomes]
rs73662257	0.93[ASN][1000 genomes]
rs7813355	1.00[CHB][hapmap]
rs7814828	0.87[ASN][1000 genomes]
rs7820324	1.00[CHB][hapmap]
rs7822129	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7826478	0.96[CEU][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7828944	0.80[EUR][1000 genomes]
rs7830266	0.96[CEU][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7836156	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs7846007	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs895253	0.80[EUR][1000 genomes]
rs9329176	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv890331	chr8:8093240-8971100	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv917117	chr8:8621658-9313799	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv831229	chr8:8751523-8926235	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv610205	chr8:8799111-8891644	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	n/a
5	nsv1022468	chr8:8857853-9209167	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
6	nsv539460	chr8:8857853-9209167	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
7	nsv817373	chr8:8857854-9361049	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 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	chr8:8859600-8861400	Active TSS	A549	lung
2	chr8:8859600-8861600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr8:8859600-8862000	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr8:8859600-8862000	Active TSS	Rectal Mucosa Donor 29	rectum
5	chr8:8859800-8861400	Active TSS	H1 Cell Line	embryonic stem cell
6	chr8:8859800-8861400	Active TSS	iPS-18 Cell Line	embryonic stem cell
7	chr8:8859800-8861400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr8:8859800-8861400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr8:8859800-8861400	Active TSS	Right Ventricle	heart
10	chr8:8859800-8861400	Active TSS	NHLF	lung
11	chr8:8859800-8861600	Active TSS	H9 Cell Line	embryonic stem cell
12	chr8:8859800-8861600	Active TSS	Pancreatic Islets	Pancreatic Islet
13	chr8:8859800-8861800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr8:8859800-8861800	Active TSS	Psoas Muscle	Psoas
15	chr8:8859800-8862000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr8:8859800-8862000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr8:8859800-8862000	Active TSS	HUES48 Cell Line	embryonic stem cell
18	chr8:8859800-8862000	Active TSS	HUES6 Cell Line	embryonic stem cell
19	chr8:8860000-8861400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
20	chr8:8860000-8861400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr8:8860000-8861400	Active TSS	Primary T cells fromperipheralblood	blood
22	chr8:8860000-8861400	Active TSS	Fetal Intestine Large	intestine
23	chr8:8860000-8861400	Active TSS	Fetal Muscle Leg	muscle
24	chr8:8860000-8861400	Active TSS	Ovary	ovary
25	chr8:8860000-8861400	Active TSS	Thymus	Thymus
26	chr8:8860000-8861400	Active TSS	GM12878-XiMat	blood
27	chr8:8860000-8861400	Active TSS	NHDF-Ad	bronchial
28	chr8:8860000-8861400	Active TSS	NHEK	skin
29	chr8:8860000-8861600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr8:8860000-8861600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr8:8860000-8862000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr8:8860000-8863400	Active TSS	K562	blood
33	chr8:8860200-8861400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr8:8860200-8861400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
35	chr8:8860200-8861400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr8:8860200-8861400	Active TSS	Esophagus	oesophagus
37	chr8:8860200-8861400	Active TSS	Fetal Thymus	thymus
38	chr8:8860200-8861400	Bivalent/Poised TSS	HepG2	liver
39	chr8:8860200-8861400	Active TSS	HMEC	breast
40	chr8:8860200-8861400	Active TSS	NH-A	brain
41	chr8:8860200-8861600	Active TSS	iPS-15b Cell Line	embryonic stem cell
42	chr8:8860200-8861600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr8:8860200-8861600	Active TSS	HSMM	muscle
44	chr8:8860200-8862000	Active TSS	HUES64 Cell Line	embryonic stem cell
45	chr8:8860200-8862200	Active TSS	Hela-S3	cervix
46	chr8:8860400-8861400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr8:8860400-8861400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr8:8860400-8861400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr8:8860400-8861400	Active TSS	Left Ventricle	heart
50	chr8:8860400-8861400	Active TSS	Lung	lung

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