Variant report

Variant	rs6870249
Chromosome Location	chr5:145672431-145672432
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:145670280..145672735-chr5:145688584..145691508,2	K562	blood:
2	chr5:145669514..145673620-chr5:145676899..145679881,3	K562	blood:

Extended variants
information (count: 82 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs10515565	0.85[LWK][hapmap];0.95[MKK][hapmap];0.86[YRI][hapmap]
rs10515568	1.00[CEU][hapmap];0.87[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs11540216	0.83[EUR][1000 genomes]
rs11952903	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11958136	0.82[YRI][hapmap]
rs11959720	1.00[CEU][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13171939	0.89[LWK][hapmap];0.96[MKK][hapmap];0.82[YRI][hapmap]
rs13183976	0.89[LWK][hapmap];0.94[MKK][hapmap];0.82[YRI][hapmap]
rs1567057	0.85[LWK][hapmap];0.90[MKK][hapmap];0.82[YRI][hapmap]
rs17104247	0.83[EUR][1000 genomes]
rs17104250	0.83[EUR][1000 genomes]
rs17104260	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs17104264	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs17104266	0.83[EUR][1000 genomes]
rs17104268	1.00[CEU][hapmap];0.87[GIH][hapmap];0.92[TSI][hapmap];0.83[EUR][1000 genomes]
rs17104276	0.83[EUR][1000 genomes]
rs17104293	0.90[EUR][1000 genomes]
rs17104318	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs17104321	0.88[ASW][hapmap];1.00[CEU][hapmap];0.87[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17104322	1.00[CEU][hapmap];0.87[GIH][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes]
rs17104324	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs17104331	1.00[CEU][hapmap];0.87[GIH][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes]
rs17104347	1.00[CEU][hapmap];0.87[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs17104362	1.00[ASW][hapmap];1.00[CEU][hapmap];0.87[GIH][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17104371	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs17104395	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2116749	0.89[YRI][hapmap]
rs2163754	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2895652	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs2963915	0.85[LWK][hapmap]
rs2963921	0.83[LWK][hapmap]
rs4631229	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4705156	0.86[YRI][hapmap]
rs56864252	0.83[EUR][1000 genomes]
rs57466173	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57722184	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs58569901	0.83[EUR][1000 genomes]
rs58922378	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60892265	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs61455974	0.83[EUR][1000 genomes]
rs66507348	0.83[EUR][1000 genomes]
rs66891285	0.83[EUR][1000 genomes]
rs67350755	0.83[EUR][1000 genomes]
rs67721586	0.83[EUR][1000 genomes]
rs67859456	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs67897591	0.83[EUR][1000 genomes]
rs68040240	0.98[EUR][1000 genomes]
rs6871866	0.83[EUR][1000 genomes]
rs6878005	0.86[LWK][hapmap];0.95[MKK][hapmap]
rs6881180	0.89[LWK][hapmap];0.96[MKK][hapmap];0.85[YRI][hapmap]
rs6882243	0.86[EUR][1000 genomes]
rs72806113	1.00[EUR][1000 genomes]
rs72806116	1.00[EUR][1000 genomes]
rs72806136	1.00[EUR][1000 genomes]
rs72806144	1.00[EUR][1000 genomes]
rs72806155	1.00[EUR][1000 genomes]
rs72806173	0.98[EUR][1000 genomes]
rs72806176	0.96[EUR][1000 genomes]
rs72820451	0.83[EUR][1000 genomes]
rs72822208	0.83[EUR][1000 genomes]
rs72822249	0.83[EUR][1000 genomes]
rs72822252	0.83[EUR][1000 genomes]
rs72822263	0.83[EUR][1000 genomes]
rs72822274	0.83[EUR][1000 genomes]
rs72824110	0.86[EUR][1000 genomes]
rs72824123	0.93[EUR][1000 genomes]
rs72824124	0.93[EUR][1000 genomes]
rs73315720	0.83[EUR][1000 genomes]
rs73317887	0.93[EUR][1000 genomes]
rs73317890	0.93[EUR][1000 genomes]
rs7722258	0.89[YRI][hapmap]
rs7728381	0.83[LWK][hapmap]
rs7729098	0.89[LWK][hapmap];0.96[MKK][hapmap];0.85[YRI][hapmap]
rs9918101	0.98[LWK][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv883006	chr5:145450586-145672431	ZNF genes & repeats Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv428128	chr5:145503978-145682880	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv883007	chr5:145506100-145672431	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv883009	chr5:145567877-145672431	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv883011	chr5:145583623-145672431	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
6	nsv883012	chr5:145589542-145672431	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases
7	nsv462478	chr5:145622472-145687295	Genic enhancers Strong transcription Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
8	nsv599937	chr5:145622472-145687295	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:145649200-145676200	Weak transcription	Fetal Brain Male	brain
2	chr5:145657800-145676000	Weak transcription	Brain Substantia Nigra	brain
3	chr5:145663200-145674400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr5:145663200-145674600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr5:145665800-145672600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr5:145666600-145677000	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr5:145667000-145677400	Weak transcription	HUVEC	blood vessel
8	chr5:145667200-145675400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr5:145667400-145675400	Weak transcription	A549	lung
10	chr5:145668400-145672600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr5:145669000-145681000	Weak transcription	HSMM	muscle
12	chr5:145669400-145673600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr5:145671400-145673200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr5:145671600-145673200	Enhancers	HMEC	breast
15	chr5:145672000-145672600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr5:145672000-145672800	Enhancers	NHEK	skin
17	chr5:145672400-145672600	Enhancers	iPS-15b Cell Line	embryonic stem cell

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