Variant report

Variant	rs8191530
Chromosome Location	chr8:11628759-11628760
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:11628045..11631391-chr8:11641711..11643829,4	K562	blood:
2	chr8:11625866..11628884-chr8:11724599..11727626,3	MCF-7	breast:
3	chr8:11625747..11629309-chr8:11658765..11661345,4	K562	blood:
4	chr8:11625432..11628777-chr8:11664764..11667821,4	MCF-7	breast:
5	chr8:11628184..11630862-chr8:11705136..11707099,2	K562	blood:

Variant related genes	Relation type
ENSG00000255046	Chromatin interaction
ENSG00000164733	Chromatin interaction
ENSG00000079459	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10101195	0.91[CHB][hapmap];0.84[JPT][hapmap];0.86[ASN][1000 genomes]
rs17153776	1.00[CEU][hapmap];0.91[JPT][hapmap];0.91[EUR][1000 genomes]
rs17153782	0.87[ASN][1000 genomes]
rs17524895	0.86[EUR][1000 genomes]
rs2740435	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs28438570	0.83[EUR][1000 genomes]
rs34928882	0.88[ASN][1000 genomes]
rs3735809	1.00[CEU][hapmap]
rs59648461	0.83[EUR][1000 genomes]
rs6601606	1.00[EUR][1000 genomes]
rs66510044	0.88[ASN][1000 genomes]
rs6993013	1.00[CEU][hapmap];0.83[YRI][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs804270	0.86[ASN][1000 genomes]
rs804271	0.83[CHB][hapmap];0.90[JPT][hapmap];0.87[ASN][1000 genomes]
rs8191547	1.00[CEU][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8191579	1.00[EUR][1000 genomes]
rs8191581	1.00[EUR][1000 genomes]
rs8191585	1.00[EUR][1000 genomes]
rs8191593	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs8191602	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs8191609	1.00[EUR][1000 genomes]
rs8191613	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs8191614	1.00[CEU][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8191618	1.00[CEU][hapmap]
rs8191624	1.00[EUR][1000 genomes]
rs8191634	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs8191636	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs8191640	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs8191652	1.00[CEU][hapmap];0.83[YRI][hapmap];1.00[EUR][1000 genomes]
rs8191664	1.00[CEU][hapmap];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529399	chr8:10970091-11805960	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
2	nsv1018978	chr8:11438267-11858466	Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv917963	chr8:11540723-11751798	Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv1027378	chr8:11541739-11858466	Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
5	nsv1028229	chr8:11575762-11805961	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
6	nsv539475	chr8:11575762-11805961	Flanking Active TSS Genic enhancers Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
7	nsv428514	chr8:11580381-11765706	Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
8	nsv916483	chr8:11590294-11672038	Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
9	nsv1034014	chr8:11602337-11858466	Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
10	nsv890360	chr8:11619163-11639991	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
11	nsv1023803	chr8:11623570-11721655	Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
12	nsv539476	chr8:11623570-11721655	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
13	nsv890361	chr8:11625808-11755513	Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
14	nsv890362	chr8:11625808-11771089	Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 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	chr8:11627000-11628800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr8:11627400-11628800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr8:11627400-11628800	Flanking Active TSS	Primary B cells from cord blood	blood
4	chr8:11627400-11629000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
5	chr8:11627400-11629000	Flanking Active TSS	Dnd41	blood
6	chr8:11627800-11628800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
7	chr8:11627800-11628800	Flanking Active TSS	Duodenum Mucosa	Duodenum
8	chr8:11627800-11628800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
9	chr8:11628000-11628800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr8:11628000-11628800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr8:11628000-11628800	Flanking Active TSS	Fetal Muscle Trunk	muscle
12	chr8:11628000-11628800	Enhancers	Placenta Amnion	Placenta Amnion
13	chr8:11628000-11629000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
14	chr8:11628000-11629200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr8:11628000-11640800	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr8:11628200-11628800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
17	chr8:11628200-11628800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
18	chr8:11628200-11628800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr8:11628200-11628800	Flanking Active TSS	Brain Anterior Caudate	brain
20	chr8:11628200-11628800	Flanking Active TSS	Brain Hippocampus Middle	brain
21	chr8:11628200-11628800	Enhancers	Fetal Lung	lung
22	chr8:11628200-11628800	Flanking Active TSS	Fetal Muscle Leg	muscle
23	chr8:11628200-11628800	Enhancers	Placenta	Placenta
24	chr8:11628200-11628800	Enhancers	Fetal Thymus	thymus
25	chr8:11628200-11628800	Flanking Active TSS	Stomach Smooth Muscle	stomach
26	chr8:11628200-11629000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
27	chr8:11628200-11629000	Flanking Active TSS	Brain Cingulate Gyrus	brain
28	chr8:11628200-11629000	Enhancers	Gastric	stomach
29	chr8:11628200-11629200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr8:11628200-11629200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
31	chr8:11628200-11629400	Enhancers	Fetal Brain Male	brain
32	chr8:11628400-11628800	Enhancers	Primary hematopoietic stem cells short term culture	blood
33	chr8:11628400-11628800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
34	chr8:11628400-11628800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
35	chr8:11628400-11628800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr8:11628400-11628800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
37	chr8:11628400-11628800	Flanking Active TSS	HSMMtube	muscle
38	chr8:11628400-11628800	Enhancers	NHDF-Ad	bronchial
39	chr8:11628400-11629000	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
40	chr8:11628400-11629000	Enhancers	Primary T cells fromperipheralblood	blood
41	chr8:11628400-11629000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
42	chr8:11628400-11629000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
43	chr8:11628400-11629000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr8:11628400-11629000	Enhancers	Brain Germinal Matrix	brain
45	chr8:11628400-11629000	Enhancers	Right Ventricle	heart
46	chr8:11628400-11629200	Enhancers	Lung	lung
47	chr8:11628400-11629800	Weak transcription	Primary T cells from cord blood	blood
48	chr8:11628400-11632200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr8:11628400-11634000	Weak transcription	Aorta	Aorta
50	chr8:11628400-11635800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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