Variant report

Variant	rs7002643
Chromosome Location	chr8:19389865-19389866
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 88 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10088454	0.82[CHB][hapmap];0.96[CHD][hapmap];0.94[GIH][hapmap];0.88[JPT][hapmap];0.87[TSI][hapmap];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10089231	0.82[CHB][hapmap];0.96[CHD][hapmap];0.94[GIH][hapmap];0.88[JPT][hapmap];0.91[LWK][hapmap];0.86[MEX][hapmap];0.97[MKK][hapmap];0.87[TSI][hapmap];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10095053	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10099716	0.89[ASN][1000 genomes]
rs10100589	0.87[CHD][hapmap];0.91[GIH][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap];0.96[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10101192	1.00[CEU][hapmap];0.92[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];0.88[JPT][hapmap];0.86[MEX][hapmap];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10104448	0.82[CHB][hapmap]
rs10105363	0.82[CHB][hapmap];0.91[CHD][hapmap];0.94[GIH][hapmap];0.88[JPT][hapmap];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10106622	0.82[CHB][hapmap];0.87[CHD][hapmap];0.91[GIH][hapmap];0.86[MEX][hapmap];0.87[TSI][hapmap];0.92[AMR][1000 genomes]
rs10109274	0.86[ASW][hapmap];1.00[CEU][hapmap];0.82[CHB][hapmap];0.96[CHD][hapmap];0.94[GIH][hapmap];0.88[JPT][hapmap];0.83[LWK][hapmap];0.86[MEX][hapmap];0.87[TSI][hapmap];0.92[YRI][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10110641	1.00[CHB][hapmap]
rs10111704	1.00[CHB][hapmap];0.88[JPT][hapmap];0.90[ASN][1000 genomes]
rs10112270	0.89[ASN][1000 genomes]
rs10282938	0.84[CHD][hapmap];0.88[JPT][hapmap]
rs10282948	0.88[JPT][hapmap]
rs10503649	0.82[CHB][hapmap];0.88[AMR][1000 genomes]
rs10503651	1.00[CEU][hapmap];0.91[CHB][hapmap];0.88[JPT][hapmap];0.84[YRI][hapmap];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11988176	0.88[JPT][hapmap]
rs11995671	0.91[CHB][hapmap];0.87[CHD][hapmap];0.86[MEX][hapmap];0.87[TSI][hapmap];0.96[AMR][1000 genomes]
rs11996150	1.00[CEU][hapmap];0.92[CHB][hapmap];0.88[JPT][hapmap];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11996428	0.82[CHB][hapmap];0.87[CHD][hapmap];0.86[MEX][hapmap];0.87[TSI][hapmap];0.96[AMR][1000 genomes]
rs11997873	0.82[CHB][hapmap];0.92[AMR][1000 genomes]
rs12334362	1.00[CEU][hapmap];0.82[CHB][hapmap];0.88[JPT][hapmap];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13248137	0.86[MEX][hapmap];0.82[AMR][1000 genomes]
rs13263246	0.82[CHB][hapmap];0.87[CHD][hapmap];0.91[GIH][hapmap];0.86[MEX][hapmap];0.87[TSI][hapmap];0.92[AMR][1000 genomes]
rs13265751	0.87[CHD][hapmap]
rs13280511	0.87[EUR][1000 genomes]
rs13281882	0.82[CHB][hapmap];0.83[CHD][hapmap];0.91[GIH][hapmap]
rs13282951	0.87[ASW][hapmap];0.82[CHB][hapmap];0.96[CHD][hapmap];0.94[GIH][hapmap];0.88[JPT][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17128556	1.00[CHB][hapmap];0.96[CHD][hapmap];0.88[JPT][hapmap];0.90[ASN][1000 genomes]
rs17128604	0.86[ASW][hapmap];0.82[CHB][hapmap];0.91[CHD][hapmap];0.94[GIH][hapmap];0.88[JPT][hapmap];0.86[MEX][hapmap];0.87[TSI][hapmap];0.84[YRI][hapmap];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17128609	0.82[CHB][hapmap];0.88[JPT][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17128707	0.80[AMR][1000 genomes]
rs28460428	0.90[ASN][1000 genomes]
rs28488909	0.92[ASN][1000 genomes]
rs28490401	1.00[CHB][hapmap];0.91[CHD][hapmap];0.88[JPT][hapmap];0.89[ASN][1000 genomes]
rs28581643	0.90[ASN][1000 genomes]
rs28611430	0.96[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs28614008	0.90[ASN][1000 genomes]
rs28640069	0.87[ASN][1000 genomes]
rs34524638	0.84[AMR][1000 genomes]
rs35086264	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs35989102	0.96[AMR][1000 genomes]
rs4332151	0.88[JPT][hapmap]
rs4413788	0.83[CHD][hapmap]
rs4461917	0.82[CHB][hapmap];0.88[AMR][1000 genomes]
rs4472532	1.00[CEU][hapmap];0.82[CHB][hapmap];0.95[CHD][hapmap];0.88[JPT][hapmap];0.86[MEX][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4481614	0.82[CHB][hapmap];0.88[JPT][hapmap];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4507779	0.88[JPT][hapmap]
rs4921651	0.83[CHD][hapmap]
rs4922047	0.83[CHD][hapmap]
rs55676623	0.89[ASN][1000 genomes]
rs56303837	0.96[AMR][1000 genomes]
rs56672726	0.89[ASN][1000 genomes]
rs57087900	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs59703425	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61309921	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs66758432	0.88[AMR][1000 genomes]
rs67210305	0.88[AMR][1000 genomes]
rs67389428	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs68068544	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6980558	0.83[CHD][hapmap];0.91[GIH][hapmap];0.92[AMR][1000 genomes]
rs6992213	0.87[TSI][hapmap]
rs6993026	0.82[CHB][hapmap];0.83[CHD][hapmap];0.87[GIH][hapmap]
rs6995282	0.82[CHB][hapmap]
rs6995903	0.82[CHB][hapmap];0.87[CHD][hapmap];0.91[GIH][hapmap];0.86[MEX][hapmap];0.87[TSI][hapmap];0.92[AMR][1000 genomes]
rs6996593	0.82[CHB][hapmap]
rs6996750	0.81[CHB][hapmap]
rs6998334	0.82[CHD][hapmap]
rs6999542	0.83[CHD][hapmap]
rs7004016	0.82[CHB][hapmap];0.82[AMR][1000 genomes]
rs7017776	0.83[CHD][hapmap]
rs73585587	0.81[ASN][1000 genomes]
rs7814548	0.82[CHB][hapmap];0.96[CHD][hapmap];0.88[JPT][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv429907	chr8:18578720-19398220	Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv533109	chr8:18845845-19456780	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv949636	chr8:18957705-19664732	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	nsv948861	chr8:19199688-19609029	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	nsv949304	chr8:19199688-19625912	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
6	esv34007	chr8:19252602-19482098	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
7	nsv890624	chr8:19319061-19456270	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv610753	chr8:19364883-19439977	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv890625	chr8:19368697-19799641	Strong transcription Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
10	nsv1018057	chr8:19370830-19435399	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	nsv1016276	chr8:19374998-19435147	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
12	nsv1024012	chr8:19377703-19409791	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
13	nsv890626	chr8:19383697-19483259	Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
14	nsv890627	chr8:19389865-19561997	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 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	chr8:19375600-19390000	Weak transcription	Right Atrium	heart
2	chr8:19379400-19434200	Weak transcription	Placenta	Placenta
3	chr8:19380800-19394600	Weak transcription	Primary B cells from cord blood	blood
4	chr8:19380800-19397200	Weak transcription	Right Ventricle	heart
5	chr8:19385400-19397200	Weak transcription	Left Ventricle	heart
6	chr8:19385800-19394400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr8:19386400-19398200	Weak transcription	Ovary	ovary
8	chr8:19387000-19393200	Weak transcription	Hela-S3	cervix
9	chr8:19387000-19397000	Weak transcription	Primary neutrophils fromperipheralblood	blood
10	chr8:19388000-19390400	Enhancers	Primary T cells from cord blood	blood
11	chr8:19388000-19390400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
12	chr8:19388200-19390400	Enhancers	Primary T helper cells PMA-I stimulated	--
13	chr8:19388400-19390200	Enhancers	Primary T helper naive cells from peripheral blood	blood
14	chr8:19389000-19408000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr8:19389400-19390400	Enhancers	A549	lung
16	chr8:19389600-19390000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr8:19389800-19390400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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