Variant report

Variant	rs8191704
Chromosome Location	chr6:160412338-160412339
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:160237135..160238915-chr6:160411646..160414535,2	K562	blood:
2	chr6:160408864..160412634-chr6:160420302..160422252,4	K562	blood:
3	chr6:160410632..160414252-chr6:160426302..160430082,4	K562	blood:

Variant related genes	Relation type
ENSG00000268257	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs12194757	1.00[CHB][hapmap];1.00[MEX][hapmap]
rs6413491	1.00[CHB][hapmap];1.00[MEX][hapmap]
rs8191797	1.00[MEX][hapmap]
rs8191819	1.00[CHB][hapmap];1.00[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432970	chr6:160323589-160436589	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	esv2758089	chr6:160372244-161234665	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	esv2759484	chr6:160372244-161234665	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 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	chr6:160400200-160415800	Weak transcription	Brain Germinal Matrix	brain
2	chr6:160400800-160461000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr6:160401600-160437200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr6:160402200-160431800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr6:160402800-160417800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr6:160403400-160417200	Weak transcription	Fetal Stomach	stomach
7	chr6:160403600-160417400	Weak transcription	Fetal Brain Male	brain
8	chr6:160403600-160428000	Weak transcription	Fetal Kidney	kidney
9	chr6:160405400-160412600	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr6:160405600-160412800	Weak transcription	Fetal Intestine Large	intestine
11	chr6:160405600-160417600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr6:160405800-160445000	Weak transcription	Rectal Smooth Muscle	rectum
13	chr6:160406800-160412600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr6:160406800-160412600	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr6:160407200-160413400	Weak transcription	Fetal Heart	heart
16	chr6:160407200-160431800	Weak transcription	Aorta	Aorta
17	chr6:160408000-160434800	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr6:160408600-160413000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
19	chr6:160409000-160412600	Weak transcription	Fetal Intestine Small	intestine
20	chr6:160409000-160417400	Weak transcription	HSMMtube	muscle
21	chr6:160409400-160413000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr6:160409600-160412400	Enhancers	Primary T killer memory cells from peripheral blood	blood
23	chr6:160410000-160412400	Enhancers	Rectal Mucosa Donor 31	rectum
24	chr6:160410200-160417200	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr6:160410200-160417400	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr6:160410400-160412600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr6:160410400-160412800	Weak transcription	Stomach Smooth Muscle	stomach
28	chr6:160410400-160417400	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr6:160410400-160417400	Weak transcription	Placenta	Placenta
30	chr6:160410400-160434600	Weak transcription	Hela-S3	cervix
31	chr6:160410600-160412400	Weak transcription	HepG2	liver
32	chr6:160410600-160412600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr6:160410600-160412600	Weak transcription	Lung	lung
34	chr6:160410600-160417400	Weak transcription	A549	lung
35	chr6:160410800-160412600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr6:160410800-160412600	Weak transcription	Brain Angular Gyrus	brain
37	chr6:160410800-160412600	Weak transcription	Esophagus	oesophagus
38	chr6:160410800-160412600	Weak transcription	Fetal Muscle Trunk	muscle
39	chr6:160410800-160412800	Weak transcription	Fetal Lung	lung
40	chr6:160410800-160413000	Weak transcription	Brain Substantia Nigra	brain
41	chr6:160410800-160417200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr6:160410800-160417200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr6:160410800-160424800	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr6:160411000-160412400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr6:160411000-160412600	Weak transcription	Primary T cells fromperipheralblood	blood
46	chr6:160411000-160412600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr6:160411000-160412600	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr6:160411000-160412800	Weak transcription	Brain Hippocampus Middle	brain
49	chr6:160411000-160413400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr6:160411000-160413800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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