Variant report

Variant	rs7598380
Chromosome Location	chr2:189246040-189246041
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10168173	1.00[EUR][1000 genomes]
rs10497688	1.00[EUR][1000 genomes]
rs11678294	0.93[AFR][1000 genomes]
rs11683340	0.93[AFR][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]
rs58715158	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58718952	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59058494	1.00[EUR][1000 genomes]
rs59329932	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60885306	1.00[EUR][1000 genomes]
rs61163899	1.00[EUR][1000 genomes]
rs6705443	1.00[EUR][1000 genomes]
rs6709650	1.00[EUR][1000 genomes]
rs6716922	1.00[EUR][1000 genomes]
rs6721812	1.00[EUR][1000 genomes]
rs73036471	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73036479	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73036496	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73039697	1.00[EUR][1000 genomes]
rs73039700	1.00[EUR][1000 genomes]
rs73040411	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73040428	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73040439	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73040441	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73040442	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73040450	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73040454	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];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	1.00[EUR][1000 genomes]
rs7592433	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7592539	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7596417	1.00[EUR][1000 genomes]
rs7597930	1.00[EUR][1000 genomes]
rs7599101	1.00[EUR][1000 genomes]
rs9653310	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:189199400-189247600	Weak transcription	Aorta	Aorta
2	chr2:189218800-189248800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr2:189224400-189247000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr2:189230800-189248200	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr2:189235000-189246800	Weak transcription	Psoas Muscle	Psoas
6	chr2:189235000-189248800	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr2:189237600-189246400	Weak transcription	A549	lung
8	chr2:189238200-189249000	Weak transcription	Fetal Lung	lung
9	chr2:189239600-189247600	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr2:189240000-189247200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr2:189240000-189248000	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr2:189240200-189249000	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr2:189242200-189248800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr2:189242600-189248600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr2:189243400-189246800	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr2:189243400-189248800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr2:189243400-189248800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr2:189243400-189249000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr2:189243600-189246400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr2:189243600-189246800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr2:189243600-189246800	Weak transcription	Ovary	ovary
22	chr2:189243600-189246800	Weak transcription	Pancreas	Pancrea
23	chr2:189244000-189247600	Enhancers	HUVEC	blood vessel
24	chr2:189245000-189246800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr2:189245000-189246800	Weak transcription	Right Atrium	heart
26	chr2:189245200-189246800	Weak transcription	Colon Smooth Muscle	Colon
27	chr2:189245200-189247800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr2:189245200-189249000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr2:189245200-189259800	Weak transcription	Gastric	stomach
30	chr2:189245400-189246800	Weak transcription	Stomach Mucosa	stomach
31	chr2:189245600-189246800	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr2:189245800-189247200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr2:189246000-189247400	Enhancers	Muscle Satellite Cultured Cells	--
34	chr2:189246000-189247400	Enhancers	NHLF	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links