Variant report

Variant	rs8191524
Chromosome Location	chr8:11628332-11628333
allele	C/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	chr8:11625966..11628578-chr8:11704558..11706433,2	MCF-7	breast:
2	chr8:11626986..11628635-chr8:11724070..11726191,2	K562	blood:
3	chr8:11628045..11631391-chr8:11641711..11643829,4	K562	blood:
4	chr8:11625866..11628884-chr8:11724599..11727626,3	MCF-7	breast:
5	chr8:11625747..11629309-chr8:11658765..11661345,4	K562	blood:
6	chr8:11625432..11628777-chr8:11664764..11667821,4	MCF-7	breast:
7	chr8:11625967..11628744-chr8:11645697..11648212,2	MCF-7	breast:
8	chr8:11628184..11630862-chr8:11705136..11707099,2	K562	blood:
9	chr8:11626596..11628658-chr8:11659514..11662088,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000164733	Chromatin interaction
ENSG00000255046	Chromatin interaction
ENSG00000079459	Chromatin interaction
ENSG00000227203	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs17573	1.00[AMR][1000 genomes]
rs2230070	1.00[AMR][1000 genomes]
rs2264310	1.00[AMR][1000 genomes]
rs58313162	1.00[AMR][1000 genomes]
rs6981167	1.00[AMR][1000 genomes]
rs6996115	1.00[AMR][1000 genomes]
rs6998335	1.00[AMR][1000 genomes]
rs7010515	1.00[AMR][1000 genomes]
rs7014537	1.00[AMR][1000 genomes]
rs73531781	1.00[AMR][1000 genomes]
rs73534705	1.00[AMR][1000 genomes]
rs73534706	1.00[AMR][1000 genomes]
rs73535986	1.00[AMR][1000 genomes]
rs73535989	1.00[AMR][1000 genomes]
rs73535993	1.00[AMR][1000 genomes]
rs73537868	1.00[AMR][1000 genomes]
rs73545763	1.00[AMR][1000 genomes]
rs73545769	1.00[AMR][1000 genomes]
rs7818491	1.00[AMR][1000 genomes]
rs7823403	1.00[AMR][1000 genomes]
rs7824489	1.00[AMR][1000 genomes]
rs7837707	1.00[AMR][1000 genomes]
rs8191532	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8191533	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8191580	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8191628	1.00[AMR][1000 genomes]
rs8191653	1.00[AMR][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:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11626600-11628400	Active TSS	H9 Cell Line	embryonic stem cell
2	chr8:11626600-11628400	Active TSS	A549	lung
3	chr8:11626600-11628400	Active TSS	HSMMtube	muscle
4	chr8:11626800-11628400	Active TSS	Aorta	Aorta
5	chr8:11626800-11628400	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr8:11627000-11628800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr8:11627400-11628400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
8	chr8:11627400-11628400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
9	chr8:11627400-11628400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr8:11627400-11628400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr8:11627400-11628400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
12	chr8:11627400-11628400	Flanking Active TSS	GM12878-XiMat	blood
13	chr8:11627400-11628600	Flanking Active TSS	Primary hematopoietic stem cells	blood
14	chr8:11627400-11628800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr8:11627400-11628800	Flanking Active TSS	Primary B cells from cord blood	blood
16	chr8:11627400-11629000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
17	chr8:11627400-11629000	Flanking Active TSS	Dnd41	blood
18	chr8:11627600-11628400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
19	chr8:11627600-11628400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
20	chr8:11627600-11628400	Flanking Active TSS	Liver	Liver
21	chr8:11627600-11628400	Flanking Active TSS	HMEC	breast
22	chr8:11627600-11628600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
23	chr8:11627600-11628600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
24	chr8:11627600-11628600	Flanking Active TSS	Adipose Nuclei	Adipose
25	chr8:11627600-11628600	Flanking Active TSS	HUVEC	blood vessel
26	chr8:11627600-11628600	Flanking Active TSS	K562	blood
27	chr8:11627600-11628600	Flanking Active TSS	NHEK	skin
28	chr8:11627800-11628400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
29	chr8:11627800-11628400	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
30	chr8:11627800-11628400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr8:11627800-11628400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
32	chr8:11627800-11628400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
33	chr8:11627800-11628400	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
34	chr8:11627800-11628600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr8:11627800-11628600	Flanking Active TSS	Primary B cells from peripheral blood	blood
36	chr8:11627800-11628600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr8:11627800-11628600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr8:11627800-11628600	Flanking Active TSS	Hela-S3	cervix
39	chr8:11627800-11628800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
40	chr8:11627800-11628800	Flanking Active TSS	Duodenum Mucosa	Duodenum
41	chr8:11627800-11628800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
42	chr8:11628000-11628400	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr8:11628000-11628400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr8:11628000-11628400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
45	chr8:11628000-11628400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr8:11628000-11628400	Flanking Active TSS	Fetal Brain Female	brain
47	chr8:11628000-11628400	Flanking Active TSS	Right Ventricle	heart
48	chr8:11628000-11628400	Flanking Active TSS	NHDF-Ad	bronchial
49	chr8:11628000-11628400	Flanking Active TSS	NHLF	lung
50	chr8:11628000-11628600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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