Variant report

Variant	rs7016960
Chromosome Location	chr8:92051053-92051054
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:92049693..92055107-chr8:92080246..92084828,10	MCF-7	breast:
2	chr8:91994028..91996763-chr8:92049752..92051452,2	K562	blood:
3	chr8:92049046..92052958-chr8:92080272..92084206,7	K562	blood:
4	chr8:91995673..92001053-chr8:92048725..92054416,11	K562	blood:
5	chr8:92050064..92053786-chr8:92080232..92083900,8	K562	blood:
6	chr8:92038726..92040802-chr8:92047935..92051520,5	K562	blood:
7	chr8:92027926..92030043-chr8:92049741..92052718,2	MCF-7	breast:
8	chr8:92048685..92051224-chr8:92051536..92053933,2	MCF-7	breast:
9	chr8:92050053..92052578-chr8:92077744..92079246,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000155099	Chromatin interaction
ENSG00000253738	Chromatin interaction
ENSG00000155100	Chromatin interaction
ENSG00000253250	Chromatin interaction
ENSG00000253358	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10106732	0.89[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs11780153	0.81[CEU][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12545269	0.96[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34213675	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34250051	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4549728	0.89[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs4582514	0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs60835352	0.95[ASN][1000 genomes]
rs7016498	0.81[ASN][1000 genomes]
rs7016665	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7016813	0.89[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs7017271	0.80[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7829199	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7846412	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028628	chr8:91680968-92418954	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv539672	chr8:91680968-92418954	Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv891185	chr8:91923776-92056288	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	esv2758623	chr8:91974499-92273724	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	esv2759629	chr8:91974499-92273724	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv831390	chr8:92037011-92198605	Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:92015800-92052200	Weak transcription	Pancreas	Pancrea
2	chr8:92030800-92052400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr8:92030800-92052400	Weak transcription	Lung	lung
4	chr8:92032200-92051800	Weak transcription	Thymus	Thymus
5	chr8:92032200-92052200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr8:92032200-92052200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr8:92032200-92052200	Weak transcription	Fetal Stomach	stomach
8	chr8:92032400-92051800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr8:92037600-92051400	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr8:92040200-92051400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr8:92040200-92052200	Weak transcription	HSMM	muscle
12	chr8:92040400-92051800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr8:92040600-92051200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr8:92040600-92051400	Weak transcription	NHEK	skin
15	chr8:92040800-92051400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr8:92040800-92052400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr8:92041400-92051800	Weak transcription	Fetal Thymus	thymus
18	chr8:92044200-92051800	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr8:92045800-92052400	Weak transcription	Gastric	stomach
20	chr8:92046000-92051400	Weak transcription	Primary B cells from peripheral blood	blood
21	chr8:92047000-92051400	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr8:92047000-92051800	Weak transcription	Right Atrium	heart
23	chr8:92047000-92052200	Weak transcription	Fetal Muscle Leg	muscle
24	chr8:92047000-92052200	Weak transcription	Left Ventricle	heart
25	chr8:92047000-92052400	Weak transcription	Small Intestine	intestine
26	chr8:92047200-92051400	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr8:92047200-92052200	Weak transcription	Fetal Heart	heart
28	chr8:92047600-92051400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr8:92047800-92051200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr8:92048200-92051400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
31	chr8:92048200-92052400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr8:92048400-92052400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
33	chr8:92048800-92052200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
34	chr8:92049000-92051400	Enhancers	Colon Smooth Muscle	Colon
35	chr8:92049000-92051600	Enhancers	Brain Anterior Caudate	brain
36	chr8:92049000-92052200	Enhancers	Primary T helper cells PMA-I stimulated	--
37	chr8:92049000-92052600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
38	chr8:92049200-92051800	Enhancers	Rectal Smooth Muscle	rectum
39	chr8:92049200-92052000	Enhancers	Breast Myoepithelial Primary Cells	Breast
40	chr8:92049400-92051800	Enhancers	Fetal Brain Male	brain
41	chr8:92049400-92051800	Enhancers	Osteobl	bone
42	chr8:92049400-92052200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
43	chr8:92049600-92051400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr8:92049600-92051400	Enhancers	Brain Germinal Matrix	brain
45	chr8:92049600-92052200	Weak transcription	Right Ventricle	heart
46	chr8:92049600-92052400	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr8:92049800-92051400	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr8:92049800-92051800	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr8:92049800-92052200	Weak transcription	Aorta	Aorta
50	chr8:92049800-92052200	Weak transcription	HSMMtube	muscle

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