Variant report

Variant	rs8191639
Chromosome Location	chr8:11640611-11640612
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:11625283..11628000-chr8:11640532..11643496,2	K562	blood:
2	chr8:11640245..11642389-chr8:11658512..11660745,2	K562	blood:

Variant related genes	Relation type
ENSG00000255046	Chromatin interaction
ENSG00000079459	Chromatin interaction
ENSG00000154328	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11774161	0.82[AFR][1000 genomes]
rs11787320	0.86[AFR][1000 genomes]
rs7013933	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs804292	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs8191514	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs8191518	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs8191589	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs8191598	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 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	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
11	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
12	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
13	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	chr8:11628000-11640800	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr8:11628400-11641200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr8:11628400-11641200	Weak transcription	Psoas Muscle	Psoas
4	chr8:11628400-11641400	Weak transcription	Esophagus	oesophagus
5	chr8:11628400-11647200	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr8:11628400-11653000	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr8:11628400-11656800	Weak transcription	Small Intestine	intestine
8	chr8:11628600-11640800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr8:11628600-11641800	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr8:11628600-11647200	Weak transcription	Fetal Heart	heart
11	chr8:11628800-11640800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr8:11628800-11640800	Weak transcription	Duodenum Mucosa	Duodenum
13	chr8:11628800-11641000	Weak transcription	Colon Smooth Muscle	Colon
14	chr8:11628800-11641200	Weak transcription	HSMM	muscle
15	chr8:11628800-11641600	Weak transcription	Colonic Mucosa	Colon
16	chr8:11628800-11646800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr8:11629000-11640800	Weak transcription	Gastric	stomach
18	chr8:11629000-11640800	Weak transcription	Right Ventricle	heart
19	chr8:11629000-11641000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr8:11629000-11641600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr8:11629200-11640800	Weak transcription	Fetal Intestine Large	intestine
22	chr8:11629200-11644200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr8:11629600-11645800	Strong transcription	Fetal Muscle Trunk	muscle
24	chr8:11629800-11644200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr8:11630600-11640800	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr8:11632000-11641800	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr8:11632200-11641000	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr8:11633000-11640800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr8:11634200-11641200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr8:11634400-11645000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr8:11634600-11641000	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr8:11634600-11644400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr8:11634600-11645200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr8:11634800-11640800	Weak transcription	GM12878-XiMat	blood
35	chr8:11635200-11644800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr8:11635400-11640800	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr8:11635400-11645400	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr8:11636000-11645600	Weak transcription	Hela-S3	cervix
39	chr8:11636400-11645600	Strong transcription	Fetal Stomach	stomach
40	chr8:11636600-11644600	Strong transcription	Stomach Smooth Muscle	stomach
41	chr8:11636600-11645000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr8:11636600-11645800	Strong transcription	Primary B cells from peripheral blood	blood
43	chr8:11636800-11644200	Strong transcription	Dnd41	blood
44	chr8:11636800-11659400	Weak transcription	Thymus	Thymus
45	chr8:11637400-11640800	Weak transcription	Ovary	ovary
46	chr8:11637600-11640800	Weak transcription	Left Ventricle	heart
47	chr8:11637600-11640800	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr8:11637600-11645600	Strong transcription	Primary B cells from cord blood	blood
49	chr8:11637800-11640800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr8:11637800-11640800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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