Variant report

Variant	rs1467397
Chromosome Location	chr1:174337818-174337819
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10489257	1.00[EUR][1000 genomes]
rs10912742	1.00[EUR][1000 genomes]
rs10912743	1.00[EUR][1000 genomes]
rs10912744	1.00[EUR][1000 genomes]
rs10912748	1.00[EUR][1000 genomes]
rs10912760	1.00[EUR][1000 genomes]
rs10912767	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10912768	1.00[EUR][1000 genomes]
rs10912783	1.00[EUR][1000 genomes]
rs10912784	1.00[EUR][1000 genomes]
rs10912785	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10912788	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10912790	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10912801	0.85[YRI][hapmap]
rs12057220	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12058498	1.00[EUR][1000 genomes]
rs12059051	1.00[EUR][1000 genomes]
rs12059636	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12059902	1.00[EUR][1000 genomes]
rs12066028	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12067445	1.00[EUR][1000 genomes]
rs12069450	1.00[EUR][1000 genomes]
rs12070328	1.00[EUR][1000 genomes]
rs12071243	1.00[EUR][1000 genomes]
rs12073453	1.00[EUR][1000 genomes]
rs12075085	0.85[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12075263	1.00[EUR][1000 genomes]
rs12075962	1.00[EUR][1000 genomes]
rs12076425	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12077462	1.00[EUR][1000 genomes]
rs12078222	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12079274	1.00[EUR][1000 genomes]
rs12081444	1.00[EUR][1000 genomes]
rs12081595	1.00[EUR][1000 genomes]
rs12082017	1.00[EUR][1000 genomes]
rs12083355	1.00[EUR][1000 genomes]
rs12084911	1.00[EUR][1000 genomes]
rs12090908	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12092291	1.00[EUR][1000 genomes]
rs12094140	1.00[EUR][1000 genomes]
rs12094364	1.00[EUR][1000 genomes]
rs12096718	1.00[EUR][1000 genomes]
rs12354281	1.00[EUR][1000 genomes]
rs16846878	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17838246	0.85[YRI][hapmap]
rs6659951	1.00[AMR][1000 genomes]
rs6673147	1.00[EUR][1000 genomes]
rs6682041	1.00[EUR][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	nsv872552	chr1:174061844-174469748	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	esv1799250	chr1:174119038-174484277	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
3	esv1800060	chr1:174132703-174501836	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv465672	chr1:174133251-174469905	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
5	nsv548194	chr1:174133251-174469905	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
6	nsv470746	chr1:174150850-174469905	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
7	nsv1001803	chr1:174176164-174367747	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
8	nsv872553	chr1:174195629-174373379	ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	nsv1010069	chr1:174215293-174539512	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
10	nsv1014637	chr1:174265631-174826765	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
11	nsv535208	chr1:174265631-174826765	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
12	nsv1014753	chr1:174271770-174694838	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
13	esv1795045	chr1:174273004-174346276	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	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	chr1:174298000-174361800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr1:174310600-174362400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:174315600-174366400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr1:174317400-174342400	Weak transcription	Primary B cells from peripheral blood	blood
5	chr1:174318800-174369800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr1:174319200-174362600	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr1:174322400-174363000	Weak transcription	Primary hematopoietic stem cells	blood
8	chr1:174325800-174382800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr1:174326400-174346800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr1:174327400-174362000	Weak transcription	Primary T cells from cord blood	blood
11	chr1:174327600-174362200	Weak transcription	Aorta	Aorta
12	chr1:174328600-174343800	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr1:174328600-174345600	Weak transcription	Duodenum Mucosa	Duodenum
14	chr1:174328800-174347200	Weak transcription	Fetal Intestine Small	intestine
15	chr1:174328800-174366400	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr1:174333800-174343400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr1:174334800-174342000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr1:174334800-174361800	Weak transcription	Left Ventricle	heart
19	chr1:174335000-174349600	Weak transcription	Pancreas	Pancrea
20	chr1:174335000-174361800	Weak transcription	Primary B cells from cord blood	blood
21	chr1:174337200-174338800	Weak transcription	Fetal Heart	heart
22	chr1:174337400-174341800	Weak transcription	GM12878-XiMat	blood

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