Variant report

Variant	rs7308295
Chromosome Location	chr12:39967854-39967855
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs11171949	0.82[CHD][hapmap];0.93[JPT][hapmap]
rs11171957	0.82[CHD][hapmap];0.93[JPT][hapmap]
rs11172024	0.91[JPT][hapmap]
rs11172035	0.82[CHD][hapmap];0.93[JPT][hapmap]
rs11172105	0.93[JPT][hapmap]
rs11172168	0.92[JPT][hapmap]
rs11172347	0.84[ASN][1000 genomes]
rs11172359	0.84[ASN][1000 genomes]
rs11172373	0.93[JPT][hapmap];0.84[ASN][1000 genomes]
rs11172471	0.85[ASN][1000 genomes]
rs11172474	0.85[ASN][1000 genomes]
rs11172502	0.86[ASN][1000 genomes]
rs11172566	0.87[CHB][hapmap];0.93[JPT][hapmap];0.87[ASN][1000 genomes]
rs11172603	0.87[ASN][1000 genomes]
rs11172617	0.87[ASN][1000 genomes]
rs11172644	0.87[ASN][1000 genomes]
rs11172667	0.89[ASN][1000 genomes]
rs11172675	0.89[ASN][1000 genomes]
rs11172676	0.89[ASN][1000 genomes]
rs11172696	0.87[CHB][hapmap];0.82[CHD][hapmap];0.93[JPT][hapmap];0.89[ASN][1000 genomes]
rs11172702	0.87[CHB][hapmap];0.93[JPT][hapmap];0.89[ASN][1000 genomes]
rs11543371	0.87[ASN][1000 genomes]
rs12227092	0.83[ASN][1000 genomes]
rs12227642	0.82[CHD][hapmap];0.93[JPT][hapmap]
rs12228285	0.84[ASN][1000 genomes]
rs12423205	0.94[AFR][1000 genomes]
rs17127113	0.80[YRI][hapmap]
rs17127119	0.82[CHD][hapmap];0.93[JPT][hapmap]
rs17127131	0.81[MKK][hapmap];0.82[YRI][hapmap]
rs4595585	0.87[CHB][hapmap];0.82[CHD][hapmap];0.92[JPT][hapmap];0.89[ASN][1000 genomes]
rs59380486	0.83[ASN][1000 genomes]
rs7968185	0.98[AFR][1000 genomes]
rs9788260	0.93[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531527	chr12:39680812-40182822	Enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv1037457	chr12:39898349-40245401	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv541480	chr12:39898349-40245401	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv1039645	chr12:39903123-40022029	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv522940	chr12:39946354-39998144	Enhancers ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv469359	chr12:39946354-40034699	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv558591	chr12:39946354-40034699	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	nsv469361	chr12:39946354-40042220	Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised 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
9	nsv558592	chr12:39946354-40042220	Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv899014	chr12:39946354-40068896	Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	nsv899015	chr12:39946354-40118249	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
12	nsv899016	chr12:39949147-40004906	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
13	nsv899017	chr12:39949147-40081619	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
14	nsv899018	chr12:39949147-40111761	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer 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	2 gene(s)	inside rSNPs	diseases
15	nsv899019	chr12:39955802-40004906	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:39948800-40000000	Weak transcription	Stomach Smooth Muscle	stomach
2	chr12:39953000-39969200	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr12:39953800-39978600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr12:39962600-39974200	Strong transcription	Primary T cells fromperipheralblood	blood
5	chr12:39963200-39968400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr12:39963200-39975600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr12:39963400-39991600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr12:39963600-39972000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr12:39963600-39978200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr12:39963800-40010200	Weak transcription	Left Ventricle	heart
11	chr12:39964200-39969400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr12:39964400-39968200	Strong transcription	Primary T helper cells fromperipheralblood	blood
13	chr12:39964400-39970400	Strong transcription	Primary T helper cells PMA-I stimulated	--
14	chr12:39964400-39979000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr12:39965400-39973600	Weak transcription	Adipose Nuclei	Adipose
16	chr12:39966000-39970400	Enhancers	Fetal Brain Male	brain
17	chr12:39966600-39993200	Weak transcription	GM12878-XiMat	blood
18	chr12:39966600-39993400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr12:39966800-39968600	Enhancers	Fetal Brain Female	brain
20	chr12:39966800-40009400	Weak transcription	Primary T cells from cord blood	blood
21	chr12:39967200-39968600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr12:39967400-39968400	Enhancers	HMEC	breast
23	chr12:39967400-39969000	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr12:39967400-39969800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr12:39967400-39970000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr12:39967400-39970000	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr12:39967400-39978400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
28	chr12:39967600-39969400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr12:39967800-39968200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
30	chr12:39967800-39968800	Enhancers	iPS-20b Cell Line	embryonic stem cell
31	chr12:39967800-39968800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr12:39967800-39969600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr12:39967800-39970000	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr12:39967800-39970000	Enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr12:39967800-39970200	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr12:39967800-39993200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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