Variant report

Variant	rs10235986
Chromosome Location	chr7:17973798-17973799
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:17967449..17970656-chr7:17972677..17975613,3	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10155885	1.00[EUR][1000 genomes]
rs10238484	1.00[EUR][1000 genomes]
rs10241832	1.00[EUR][1000 genomes]
rs10258108	1.00[EUR][1000 genomes]
rs10268232	1.00[EUR][1000 genomes]
rs28590737	1.00[EUR][1000 genomes]
rs28592606	1.00[EUR][1000 genomes]
rs73683820	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533938	chr7:17254118-18040301	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv1024398	chr7:17630148-18545073	Strong transcription Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
3	nsv538764	chr7:17630148-18545073	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
4	nsv830913	chr7:17848480-18034218	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv1026629	chr7:17862477-18362404	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
6	nsv1025023	chr7:17865796-18357630	Enhancers Active TSS Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
7	nsv1030201	chr7:17898410-18491985	Enhancers Strong transcription Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
8	nsv887808	chr7:17920613-18150005	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
9	nsv1018517	chr7:17926468-18127372	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
10	nsv606357	chr7:17938491-18375245	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
11	nsv531013	chr7:17970218-18248642	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:17911400-17977400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr7:17955000-17977400	Weak transcription	Fetal Intestine Small	intestine
3	chr7:17961800-17977400	Weak transcription	Brain Angular Gyrus	brain
4	chr7:17961800-17978800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr7:17962000-17975800	Weak transcription	Hela-S3	cervix
6	chr7:17962200-17977400	Weak transcription	Brain Cingulate Gyrus	brain
7	chr7:17962400-17978600	Weak transcription	Aorta	Aorta
8	chr7:17963400-17977000	Weak transcription	Fetal Lung	lung
9	chr7:17963400-17977400	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr7:17963800-17977800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr7:17965400-17977200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr7:17966600-17974800	Weak transcription	Duodenum Mucosa	Duodenum
13	chr7:17967200-17978800	Weak transcription	Lung	lung
14	chr7:17968200-17973800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr7:17968800-17975200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
16	chr7:17969200-17977800	Enhancers	Primary T helper cells PMA-I stimulated	--
17	chr7:17970600-17974000	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr7:17970600-17974200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr7:17970600-17977400	Weak transcription	Ovary	ovary
20	chr7:17970600-17978800	Weak transcription	Pancreas	Pancrea
21	chr7:17970800-17974400	Weak transcription	HepG2	liver
22	chr7:17970800-17974800	Weak transcription	Psoas Muscle	Psoas
23	chr7:17970800-17977400	Weak transcription	Adipose Nuclei	Adipose
24	chr7:17970800-17977400	Weak transcription	Right Atrium	heart
25	chr7:17970800-17978000	Weak transcription	Left Ventricle	heart
26	chr7:17970800-17978600	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr7:17970800-17978800	Weak transcription	Gastric	stomach
28	chr7:17971000-17977200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr7:17971000-17977400	Weak transcription	NHDF-Ad	bronchial
30	chr7:17971200-17977800	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr7:17971400-17976800	Weak transcription	Brain Hippocampus Middle	brain
32	chr7:17971400-17977400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr7:17971400-17977400	Weak transcription	Brain Substantia Nigra	brain
34	chr7:17971600-17974000	Weak transcription	NHEK	skin
35	chr7:17971600-17975800	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr7:17971600-17976400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr7:17971600-17977400	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr7:17971800-17978200	Enhancers	Primary T helper cells fromperipheralblood	blood
39	chr7:17972200-17974000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr7:17972200-17974800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
41	chr7:17972200-17974800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
42	chr7:17972400-17974000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr7:17972400-17974800	Enhancers	Primary B cells from peripheral blood	blood
44	chr7:17972600-17973800	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr7:17972600-17973800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr7:17972600-17973800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
47	chr7:17972600-17977400	Weak transcription	Small Intestine	intestine
48	chr7:17972800-17973800	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr7:17972800-17973800	Weak transcription	K562	blood
50	chr7:17972800-17974400	Enhancers	Primary T cells fromperipheralblood	blood

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