Variant report

Variant	rs72975931
Chromosome Location	chr6:128320727-128320728
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs4628122	1.00[AFR][1000 genomes]
rs72973315	1.00[AFR][1000 genomes]
rs72973754	1.00[AFR][1000 genomes]
rs72973772	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv604642	chr6:128278798-128351143	Strong transcription Genic enhancers Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
2	nsv1033443	chr6:128306654-128899203	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv538440	chr6:128306654-128899203	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	nsv966661	chr6:128316158-128322133	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS	Chromatin interactive region miRNA target site	n/a	inside rSNPs	n/a

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:128288600-128321800	Weak transcription	Small Intestine	intestine
2	chr6:128289000-128431000	Weak transcription	Psoas Muscle	Psoas
3	chr6:128293600-128374400	Weak transcription	Pancreas	Pancrea
4	chr6:128294400-128330600	Weak transcription	NHDF-Ad	bronchial
5	chr6:128297400-128334000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr6:128298000-128352600	Weak transcription	Rectal Smooth Muscle	rectum
7	chr6:128298200-128334600	Weak transcription	Fetal Heart	heart
8	chr6:128300800-128326400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr6:128301000-128325200	Weak transcription	Stomach Smooth Muscle	stomach
10	chr6:128302600-128331400	Weak transcription	Gastric	stomach
11	chr6:128302800-128321600	Weak transcription	Brain Hippocampus Middle	brain
12	chr6:128302800-128325400	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr6:128302800-128327800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr6:128302800-128343800	Weak transcription	Ovary	ovary
15	chr6:128303000-128321800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr6:128304000-128329200	Weak transcription	Fetal Lung	lung
17	chr6:128304600-128327600	Weak transcription	Fetal Stomach	stomach
18	chr6:128304600-128328600	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr6:128304800-128321600	Weak transcription	Brain Substantia Nigra	brain
20	chr6:128305200-128326200	Weak transcription	Osteobl	bone
21	chr6:128305200-128353000	Weak transcription	Left Ventricle	heart
22	chr6:128306000-128329000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr6:128306000-128334000	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr6:128306000-128343200	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr6:128306800-128327800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr6:128307000-128326200	Weak transcription	HMEC	breast
27	chr6:128307200-128327600	Weak transcription	Placenta	Placenta
28	chr6:128307200-128340800	Weak transcription	HSMMtube	muscle
29	chr6:128307400-128329000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr6:128307600-128323600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr6:128307600-128325600	Weak transcription	Liver	Liver
32	chr6:128307800-128370800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr6:128308200-128326200	Weak transcription	HUVEC	blood vessel
34	chr6:128311600-128387200	Weak transcription	NH-A	brain
35	chr6:128311800-128378400	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr6:128312000-128325800	Weak transcription	Duodenum Mucosa	Duodenum
37	chr6:128312800-128325400	Weak transcription	HSMM	muscle
38	chr6:128314000-128367400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr6:128314400-128321600	Weak transcription	Primary B cells from peripheral blood	blood
40	chr6:128316200-128320800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr6:128319000-128322000	Strong transcription	Fetal Intestine Large	intestine
42	chr6:128319200-128321400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr6:128319400-128320800	Enhancers	Primary T cells from cord blood	blood
44	chr6:128319600-128320800	Strong transcription	Sigmoid Colon	Sigmoid Colon
45	chr6:128319600-128320800	Strong transcription	NHEK	skin
46	chr6:128319800-128320800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr6:128319800-128320800	Genic enhancers	Fetal Thymus	thymus
48	chr6:128320000-128322800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
49	chr6:128320400-128320800	Enhancers	Primary T cells fromperipheralblood	blood
50	chr6:128320400-128320800	Enhancers	Aorta	Aorta

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