Variant report

Variant	rs73312112
Chromosome Location	chr7:17956704-17956705
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10228026	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10228344	1.00[AMR][1000 genomes]
rs10229223	1.00[AMR][1000 genomes]
rs10229298	1.00[AMR][1000 genomes]
rs10230274	1.00[AMR][1000 genomes]
rs10230644	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10231119	0.85[AFR][1000 genomes]
rs10231226	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10231951	1.00[AMR][1000 genomes]
rs10232014	1.00[AMR][1000 genomes]
rs10232030	1.00[AMR][1000 genomes]
rs10234457	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10237285	1.00[AMR][1000 genomes]
rs10238514	1.00[AMR][1000 genomes]
rs10242619	1.00[AMR][1000 genomes]
rs10242951	1.00[AMR][1000 genomes]
rs10244018	1.00[AMR][1000 genomes]
rs10252592	1.00[AMR][1000 genomes]
rs10252726	0.82[AFR][1000 genomes]
rs10258047	0.97[AFR][1000 genomes]
rs10268362	1.00[AMR][1000 genomes]
rs10270181	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10270757	1.00[AMR][1000 genomes]
rs10274155	1.00[AMR][1000 genomes]
rs10274669	1.00[AMR][1000 genomes]
rs10274868	1.00[AMR][1000 genomes]
rs10278523	1.00[AMR][1000 genomes]
rs10280913	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10282332	0.82[AFR][1000 genomes]
rs10282571	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11975603	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11978117	1.00[AMR][1000 genomes]
rs17138308	1.00[AMR][1000 genomes]
rs17138311	1.00[AMR][1000 genomes]
rs17138375	1.00[AFR][1000 genomes]
rs17138395	0.91[AFR][1000 genomes]
rs17138405	1.00[AFR][1000 genomes]
rs17138437	1.00[AMR][1000 genomes]
rs17138450	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28476778	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28566938	1.00[AMR][1000 genomes]
rs28663676	1.00[AMR][1000 genomes]
rs28862893	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59568611	1.00[AMR][1000 genomes]
rs60138005	1.00[AMR][1000 genomes]
rs73308167	1.00[AMR][1000 genomes]
rs73308173	1.00[AMR][1000 genomes]
rs73308184	1.00[AMR][1000 genomes]
rs73310107	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73310176	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73310185	1.00[AMR][1000 genomes]
rs73310190	1.00[AMR][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	nsv1021524	chr7:17251148-17963307	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers 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	24 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:17911400-17977400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr7:17941400-17958400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr7:17947400-17957400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr7:17948200-17961000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr7:17948400-17960800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr7:17948600-17962800	Weak transcription	Rectal Smooth Muscle	rectum
7	chr7:17950800-17956800	Weak transcription	Primary B cells from cord blood	blood
8	chr7:17952800-17964400	Weak transcription	Gastric	stomach
9	chr7:17953000-17961600	Weak transcription	Aorta	Aorta
10	chr7:17953000-17963000	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr7:17953200-17960600	Weak transcription	Fetal Heart	heart
12	chr7:17953200-17960600	Weak transcription	Right Ventricle	heart
13	chr7:17953200-17964600	Weak transcription	Esophagus	oesophagus
14	chr7:17954600-17957600	Weak transcription	Liver	Liver
15	chr7:17955000-17977400	Weak transcription	Fetal Intestine Small	intestine
16	chr7:17955200-17960200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr7:17955200-17960600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr7:17955200-17960600	Weak transcription	Left Ventricle	heart
19	chr7:17955200-17964000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr7:17955200-17966200	Weak transcription	Pancreas	Pancrea
21	chr7:17955400-17957200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr7:17955400-17960600	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr7:17955400-17961200	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr7:17955400-17967000	Weak transcription	Lung	lung
25	chr7:17955400-17973000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr7:17955600-17957200	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr7:17956000-17956800	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr7:17956200-17959200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr7:17956600-17956800	ZNF genes & repeats	A549	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links