Variant report

Variant	rs12092291
Chromosome Location	chr1:174171817-174171818
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10489257	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10912711	1.00[EUR][1000 genomes]
rs10912712	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10912725	1.00[EUR][1000 genomes]
rs10912742	1.00[EUR][1000 genomes]
rs10912743	1.00[EUR][1000 genomes]
rs10912744	1.00[EUR][1000 genomes]
rs10912748	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10912752	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10912760	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10912767	1.00[EUR][1000 genomes]
rs10912768	1.00[EUR][1000 genomes]
rs10912783	1.00[EUR][1000 genomes]
rs10912784	1.00[EUR][1000 genomes]
rs10912785	1.00[EUR][1000 genomes]
rs12057220	1.00[EUR][1000 genomes]
rs12058498	1.00[EUR][1000 genomes]
rs12059636	1.00[EUR][1000 genomes]
rs12062801	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12063273	1.00[EUR][1000 genomes]
rs12063296	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12065194	1.00[EUR][1000 genomes]
rs12066028	1.00[EUR][1000 genomes]
rs12067109	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12067191	1.00[EUR][1000 genomes]
rs12067445	1.00[EUR][1000 genomes]
rs12068440	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12069446	1.00[EUR][1000 genomes]
rs12069450	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12070328	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12071243	1.00[EUR][1000 genomes]
rs12072553	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12073448	1.00[EUR][1000 genomes]
rs12073453	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12075085	1.00[EUR][1000 genomes]
rs12075263	1.00[EUR][1000 genomes]
rs12075962	1.00[EUR][1000 genomes]
rs12076425	1.00[EUR][1000 genomes]
rs12077462	1.00[EUR][1000 genomes]
rs12078222	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12078645	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12078817	1.00[EUR][1000 genomes]
rs12079274	1.00[EUR][1000 genomes]
rs12079650	1.00[EUR][1000 genomes]
rs12081444	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12081595	1.00[EUR][1000 genomes]
rs12082017	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12083355	1.00[EUR][1000 genomes]
rs12084911	1.00[EUR][1000 genomes]
rs12088180	0.82[AFR][1000 genomes]
rs12090908	1.00[EUR][1000 genomes]
rs12094364	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12096013	1.00[EUR][1000 genomes]
rs12096718	1.00[EUR][1000 genomes]
rs12354281	1.00[EUR][1000 genomes]
rs1467397	1.00[EUR][1000 genomes]
rs16846878	1.00[EUR][1000 genomes]
rs1956522	1.00[EUR][1000 genomes]
rs6673147	1.00[EUR][1000 genomes]
rs6682041	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7550107	1.00[EUR][1000 genomes]
rs997165	1.00[EUR][1000 genomes]

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	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	nsv1008314	chr1:174080192-174311023	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	nsv535207	chr1:174080192-174311023	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
4	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
5	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
6	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
7	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
8	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

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:174129600-174173200	Weak transcription	Pancreas	Pancrea
2	chr1:174144000-174178200	Weak transcription	Left Ventricle	heart
3	chr1:174154200-174173600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr1:174160000-174173600	Weak transcription	Primary B cells from peripheral blood	blood
5	chr1:174160600-174173800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr1:174160800-174186600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr1:174161000-174172200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr1:174161000-174172400	Weak transcription	Fetal Intestine Large	intestine
9	chr1:174161000-174173600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr1:174161000-174176200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr1:174161200-174176600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr1:174161600-174175000	Weak transcription	NHDF-Ad	bronchial
13	chr1:174161600-174178600	Weak transcription	Primary B cells from cord blood	blood
14	chr1:174161800-174173800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr1:174162000-174173800	Weak transcription	Hela-S3	cervix
16	chr1:174162000-174189600	Weak transcription	Duodenum Mucosa	Duodenum
17	chr1:174163800-174178200	Weak transcription	Primary hematopoietic stem cells	blood
18	chr1:174164000-174173000	Weak transcription	Primary T helper cells PMA-I stimulated	--
19	chr1:174164000-174173000	Weak transcription	K562	blood
20	chr1:174164000-174173800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr1:174164200-174172200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr1:174167200-174178400	Weak transcription	Fetal Stomach	stomach
23	chr1:174167400-174175000	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr1:174169200-174173400	Weak transcription	Fetal Heart	heart
25	chr1:174169800-174172200	Weak transcription	Primary T cells from cord blood	blood
26	chr1:174170200-174172200	Weak transcription	GM12878-XiMat	blood
27	chr1:174170200-174172800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr1:174170200-174173600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr1:174170600-174173400	Weak transcription	Primary T helper cells fromperipheralblood	blood
30	chr1:174170600-174173600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr1:174170600-174173800	Weak transcription	Dnd41	blood
32	chr1:174170800-174173000	Weak transcription	Primary T cells fromperipheralblood	blood
33	chr1:174170800-174178000	Weak transcription	Fetal Intestine Small	intestine

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