Variant report

Variant	rs73040450
Chromosome Location	chr2:189292105-189292106
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10168173	1.00[EUR][1000 genomes]
rs10497688	1.00[EUR][1000 genomes]
rs11678294	0.90[AFR][1000 genomes]
rs11683340	0.90[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]
rs16829915	1.00[EUR][1000 genomes]
rs16829922	1.00[EUR][1000 genomes]
rs58715158	0.88[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	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60885306	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	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73036479	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73036496	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73040411	0.94[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	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73040441	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73040442	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73040454	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];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	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7592539	0.94[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]
rs7598380	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9653310	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	nsv584055	chr2:189266823-189493686	Enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:189283400-189292200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:189285600-189292600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr2:189285600-189318800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr2:189285800-189318200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr2:189287800-189294000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr2:189289000-189293400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr2:189289200-189293600	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr2:189289400-189292200	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr2:189289600-189292800	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr2:189290000-189292600	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr2:189290200-189292800	Enhancers	H1 Cell Line	embryonic stem cell
12	chr2:189290200-189293400	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr2:189290600-189292200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr2:189290800-189292400	Enhancers	H9 Cell Line	embryonic stem cell
15	chr2:189291600-189297400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr2:189291800-189292200	Enhancers	A549	lung
17	chr2:189291800-189292800	ZNF genes & repeats	Fetal Intestine Small	intestine
18	chr2:189291800-189297400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr2:189291800-189297600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr2:189292000-189292800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr2:189292000-189292800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr2:189292000-189297600	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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