Variant report

Variant	rs58205148
Chromosome Location	chr7:3991184-3991185
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10244444	1.00[EUR][1000 genomes]
rs10441085	1.00[EUR][1000 genomes]
rs11972137	1.00[EUR][1000 genomes]
rs56269630	1.00[AMR][1000 genomes]
rs60946559	0.80[AFR][1000 genomes]
rs61080392	1.00[EUR][1000 genomes]
rs6462388	1.00[EUR][1000 genomes]
rs6462571	0.87[AMR][1000 genomes]
rs6961589	0.83[AFR][1000 genomes]
rs73673203	1.00[EUR][1000 genomes]
rs73673204	1.00[EUR][1000 genomes]
rs73673263	0.87[AMR][1000 genomes]
rs7794993	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7795672	1.00[EUR][1000 genomes]
rs7805865	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021650	chr7:3665232-4577439	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1029406	chr7:3860894-4477095	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv538685	chr7:3860894-4477095	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv1026410	chr7:3869104-4383606	Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv1025497	chr7:3905444-4176032	Enhancers Strong transcription ZNF genes & repeats Genic enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv538686	chr7:3905444-4176032	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv433014	chr7:3910039-4054769	Strong transcription Enhancers Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv464274	chr7:3955516-4613607	Weak transcription Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv464275	chr7:3955516-4613607	Enhancers Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv464276	chr7:3955516-4613607	Strong transcription Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv464277	chr7:3955516-4613607	Enhancers Bivalent Enhancer Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	nsv464278	chr7:3955516-4613607	Strong transcription Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
13	nsv605939	chr7:3955516-4613607	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
14	nsv1019086	chr7:3968656-4044519	ZNF genes & repeats Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
15	nsv538687	chr7:3968656-4044519	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:3983800-3991200	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr7:3987600-3995200	Weak transcription	Esophagus	oesophagus
3	chr7:3988400-4005400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr7:3988600-4010000	Weak transcription	Left Ventricle	heart
5	chr7:3988600-4032600	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr7:3988800-3994200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr7:3988800-3995000	Weak transcription	Spleen	Spleen
8	chr7:3988800-4001600	Weak transcription	Right Atrium	heart
9	chr7:3989000-3995000	Weak transcription	HSMM	muscle
10	chr7:3989000-3995200	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr7:3989200-3991200	Weak transcription	Fetal Stomach	stomach
12	chr7:3989200-3991200	Weak transcription	Stomach Smooth Muscle	stomach
13	chr7:3989200-3991400	Weak transcription	Fetal Brain Female	brain
14	chr7:3989200-3995000	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr7:3989200-4013800	Weak transcription	Primary neutrophils fromperipheralblood	blood
16	chr7:3989400-3997400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr7:3989400-4031000	Weak transcription	Right Ventricle	heart
18	chr7:3989600-3991200	Weak transcription	Fetal Lung	lung
19	chr7:3989800-3991800	Weak transcription	HepG2	liver
20	chr7:3989800-4002400	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr7:3989800-4020800	Weak transcription	Colon Smooth Muscle	Colon
22	chr7:3990000-3999800	Weak transcription	Fetal Brain Male	brain
23	chr7:3990200-3995000	Weak transcription	HSMMtube	muscle
24	chr7:3990200-3995400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr7:3990600-3991400	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr7:3990600-3991400	Strong transcription	Aorta	Aorta
27	chr7:3990600-3995200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr7:3990800-3991600	Strong transcription	Cortex derived primary cultured neurospheres	brain
29	chr7:3990800-3991800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr7:3990800-3992000	Strong transcription	Pancreas	Pancrea
31	chr7:3991000-3991200	Weak transcription	Gastric	stomach
32	chr7:3991000-3991400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
33	chr7:3991000-3991600	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr7:3991000-3991600	ZNF genes & repeats	Fetal Intestine Small	intestine

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