Variant report

Variant	rs8008391
Chromosome Location	chr14:66319596-66319597
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10138777	1.00[CHB][hapmap];0.93[JPT][hapmap]
rs12431694	1.00[AFR][1000 genomes]
rs12431772	1.00[AFR][1000 genomes]
rs12432326	1.00[AFR][1000 genomes]
rs12433830	1.00[AFR][1000 genomes]
rs12433950	1.00[AFR][1000 genomes]
rs12435769	1.00[AFR][1000 genomes]
rs12436677	1.00[AFR][1000 genomes]
rs12436771	1.00[AFR][1000 genomes]
rs12436975	1.00[AFR][1000 genomes]
rs1273856	1.00[AFR][1000 genomes]
rs17246385	1.00[AFR][1000 genomes]
rs17246441	1.00[AFR][1000 genomes]
rs17246504	1.00[AFR][1000 genomes]
rs17246532	1.00[AFR][1000 genomes]
rs17826892	1.00[AFR][1000 genomes]
rs17826946	1.00[AFR][1000 genomes]
rs17826952	1.00[AFR][1000 genomes]
rs2022846	0.89[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2073295	1.00[AFR][1000 genomes]
rs2154237	1.00[CHB][hapmap];0.93[JPT][hapmap];0.89[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2186100	0.89[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2295360	1.00[AFR][1000 genomes]
rs28496380	1.00[AFR][1000 genomes]
rs4131565	1.00[AMR][1000 genomes]
rs4899185	0.85[ASN][1000 genomes]
rs4899186	0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs4902422	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4902428	0.89[AMR][1000 genomes]
rs4902429	1.00[CHB][hapmap];0.94[JPT][hapmap];0.81[ASN][1000 genomes]
rs6573636	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs6573639	0.85[ASN][1000 genomes]
rs6573640	0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs8014173	0.89[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs8015322	0.89[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs8019249	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043943	chr14:65782466-66698411	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	55 gene(s)	inside rSNPs	diseases
2	nsv542120	chr14:65782466-66698411	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	55 gene(s)	inside rSNPs	diseases
3	esv3366524	chr14:65924360-66423862	Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
4	nsv1045000	chr14:66010886-66372518	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1042671	chr14:66010886-66399888	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv817409	chr14:66220075-66990168	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
7	nsv1052389	chr14:66255781-66321562	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv1038849	chr14:66259700-66329919	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv564953	chr14:66287921-67046960	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
10	nsv1050485	chr14:66308283-67109270	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
11	nsv832820	chr14:66310846-66362845	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	nsv530775	chr14:66316836-67079049	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
13	nsv530793	chr14:66317036-67078908	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:66314400-66319600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
2	chr14:66314600-66319800	Enhancers	Primary T cells fromperipheralblood	blood
3	chr14:66315000-66319600	Enhancers	Primary T helper cells fromperipheralblood	blood
4	chr14:66315000-66319800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr14:66317000-66319800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
6	chr14:66318000-66319600	Enhancers	Primary T helper naive cells from peripheral blood	blood
7	chr14:66318000-66319600	Enhancers	Primary T helper cells PMA-I stimulated	--
8	chr14:66318600-66319600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr14:66318600-66320800	Enhancers	Pancreas	Pancrea
10	chr14:66318800-66320800	Enhancers	Dnd41	blood
11	chr14:66319400-66319600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
12	chr14:66319400-66327000	Weak transcription	Primary T cells from cord blood	blood

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