Variant report

Variant	rs7597930
Chromosome Location	chr2:189251622-189251623
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10168173	1.00[EUR][1000 genomes]
rs10497688	1.00[EUR][1000 genomes]
rs13393870	1.00[EUR][1000 genomes]
rs13394334	1.00[EUR][1000 genomes]
rs13430185	1.00[EUR][1000 genomes]
rs13430412	1.00[EUR][1000 genomes]
rs16829866	1.00[EUR][1000 genomes]
rs16829915	1.00[EUR][1000 genomes]
rs16829922	1.00[EUR][1000 genomes]
rs58718952	1.00[EUR][1000 genomes]
rs59058494	1.00[EUR][1000 genomes]
rs59329932	1.00[EUR][1000 genomes]
rs60885306	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61163899	1.00[EUR][1000 genomes]
rs6705443	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6709650	1.00[EUR][1000 genomes]
rs6716922	1.00[EUR][1000 genomes]
rs6721812	1.00[EUR][1000 genomes]
rs73036471	1.00[EUR][1000 genomes]
rs73036479	1.00[EUR][1000 genomes]
rs73036496	1.00[EUR][1000 genomes]
rs73039697	1.00[EUR][1000 genomes]
rs73039700	1.00[EUR][1000 genomes]
rs73040411	1.00[EUR][1000 genomes]
rs73040428	1.00[EUR][1000 genomes]
rs73040439	1.00[EUR][1000 genomes]
rs73040442	1.00[EUR][1000 genomes]
rs73040450	1.00[EUR][1000 genomes]
rs73040454	1.00[EUR][1000 genomes]
rs73041610	1.00[EUR][1000 genomes]
rs73041636	1.00[EUR][1000 genomes]
rs73041644	1.00[EUR][1000 genomes]
rs73041648	1.00[EUR][1000 genomes]
rs73041649	1.00[EUR][1000 genomes]
rs7340152	1.00[EUR][1000 genomes]
rs7560857	1.00[EUR][1000 genomes]
rs7577096	1.00[EUR][1000 genomes]
rs7577467	1.00[EUR][1000 genomes]
rs7586703	1.00[EUR][1000 genomes]
rs7588114	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7592433	1.00[EUR][1000 genomes]
rs7592539	1.00[EUR][1000 genomes]
rs7596417	1.00[EUR][1000 genomes]
rs7598380	1.00[EUR][1000 genomes]
rs7599101	1.00[EUR][1000 genomes]
rs9653310	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010394	chr2:188994398-189284092	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
2	nsv998395	chr2:189018246-189284092	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
3	nsv1010330	chr2:189182307-189265614	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv999135	chr2:189184937-189265614	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv534341	chr2:189200405-189368467	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv533786	chr2:189248503-189354495	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:189245200-189259800	Weak transcription	Gastric	stomach
2	chr2:189247200-189252000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr2:189247200-189252200	Weak transcription	Rectal Smooth Muscle	rectum
4	chr2:189247600-189253400	Weak transcription	Left Ventricle	heart
5	chr2:189247600-189259800	Weak transcription	Pancreas	Pancrea
6	chr2:189247800-189252400	Weak transcription	Stomach Mucosa	stomach
7	chr2:189247800-189259600	Weak transcription	Fetal Heart	heart
8	chr2:189248200-189251800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
9	chr2:189248200-189253800	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr2:189248200-189254800	Weak transcription	HUVEC	blood vessel
11	chr2:189248400-189253200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr2:189248400-189255400	Weak transcription	Osteobl	bone
13	chr2:189248600-189251800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr2:189250200-189252600	Weak transcription	Duodenum Mucosa	Duodenum
15	chr2:189250200-189259800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr2:189250200-189261000	Weak transcription	Fetal Stomach	stomach
17	chr2:189250400-189259600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr2:189251000-189252000	Strong transcription	HUES48 Cell Line	embryonic stem cell
19	chr2:189251000-189252400	Weak transcription	A549	lung
20	chr2:189251000-189253600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr2:189251000-189253600	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr2:189251000-189255600	Strong transcription	HUES64 Cell Line	embryonic stem cell
23	chr2:189251000-189258200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr2:189251000-189259800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr2:189251000-189260000	Weak transcription	Fetal Intestine Small	intestine
26	chr2:189251000-189260000	Weak transcription	Lung	lung
27	chr2:189251000-189260000	Weak transcription	Stomach Smooth Muscle	stomach
28	chr2:189251000-189285200	Weak transcription	Aorta	Aorta
29	chr2:189251200-189251800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr2:189251200-189253200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr2:189251200-189253400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr2:189251200-189254000	Weak transcription	Fetal Muscle Trunk	muscle
33	chr2:189251200-189254400	Weak transcription	Ovary	ovary
34	chr2:189251200-189254800	Weak transcription	Fetal Kidney	kidney
35	chr2:189251200-189255600	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr2:189251200-189255600	Weak transcription	Fetal Lung	lung
37	chr2:189251200-189257600	Weak transcription	Fetal Intestine Large	intestine
38	chr2:189251200-189257800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr2:189251200-189259800	Weak transcription	Placenta	Placenta
40	chr2:189251200-189268400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr2:189251200-189269000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr2:189251200-189269400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr2:189251200-189269400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr2:189251200-189270000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr2:189251200-189270200	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr2:189251400-189254200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr2:189251600-189253600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr2:189251600-189254600	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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