Variant report

Variant	rs1992931
Chromosome Location	chr2:187290705-187290706
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10177972	1.00[AMR][1000 genomes]
rs10188241	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12463482	1.00[AMR][1000 genomes]
rs1349155	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs1349156	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs1375320	1.00[AMR][1000 genomes]
rs1442432	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1448853	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs1448864	1.00[AMR][1000 genomes]
rs1451879	0.90[YRI][hapmap];1.00[AMR][1000 genomes]
rs1823298	1.00[AMR][1000 genomes]
rs2084487	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4667096	0.91[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55745344	1.00[AMR][1000 genomes]
rs59395554	1.00[AMR][1000 genomes]
rs60816826	1.00[AMR][1000 genomes]
rs61318824	1.00[AMR][1000 genomes]
rs62196179	1.00[AMR][1000 genomes]
rs6434178	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6723903	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6727428	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6740754	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6741234	0.91[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6759051	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73979110	1.00[AMR][1000 genomes]
rs73979115	1.00[AMR][1000 genomes]
rs73979116	1.00[AMR][1000 genomes]
rs73979131	1.00[AMR][1000 genomes]
rs73979138	1.00[AMR][1000 genomes]
rs73979143	1.00[AMR][1000 genomes]
rs73979161	1.00[AMR][1000 genomes]
rs73979174	1.00[AMR][1000 genomes]
rs73979189	1.00[AMR][1000 genomes]
rs73980888	1.00[AMR][1000 genomes]
rs73980898	1.00[AMR][1000 genomes]
rs7558856	0.91[YRI][hapmap];1.00[AMR][1000 genomes]
rs967425	0.91[YRI][hapmap];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv868949	chr2:186657142-187327560	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv1006411	chr2:187150025-187291081	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv536079	chr2:187150025-187291081	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv428067	chr2:187171324-187334779	Enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1005680	chr2:187244500-187320653	Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv536080	chr2:187244500-187320653	Strong transcription Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv1001927	chr2:187264940-187325667	Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv997835	chr2:187265730-187327561	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv536081	chr2:187265730-187327561	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:187274200-187294000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:187275600-187290800	Weak transcription	Primary T cells from cord blood	blood
3	chr2:187276200-187293000	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr2:187278200-187291200	Weak transcription	Primary T helper cells PMA-I stimulated	--
5	chr2:187279000-187291200	Weak transcription	Primary hematopoietic stem cells	blood
6	chr2:187279600-187291400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr2:187279800-187300600	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr2:187281600-187292800	Weak transcription	Liver	Liver
9	chr2:187282400-187299200	Weak transcription	Stomach Smooth Muscle	stomach
10	chr2:187283000-187291200	Weak transcription	Primary B cells from peripheral blood	blood
11	chr2:187283800-187290800	Weak transcription	HepG2	liver
12	chr2:187283800-187291200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr2:187286400-187291200	Weak transcription	GM12878-XiMat	blood
14	chr2:187286800-187291400	Weak transcription	Primary B cells from cord blood	blood
15	chr2:187287200-187300800	Weak transcription	Ovary	ovary
16	chr2:187287400-187298000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr2:187287600-187292400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr2:187287600-187292600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr2:187287800-187293200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr2:187288600-187301200	Weak transcription	Gastric	stomach
21	chr2:187288800-187291000	Weak transcription	Small Intestine	intestine
22	chr2:187289200-187300800	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr2:187289800-187291600	Enhancers	Fetal Intestine Small	intestine
24	chr2:187290000-187293000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
25	chr2:187290200-187298200	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr2:187290400-187290800	Weak transcription	Fetal Intestine Large	intestine
27	chr2:187290400-187290800	Weak transcription	Fetal Lung	lung
28	chr2:187290400-187291800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr2:187290600-187304200	Weak transcription	Stomach Mucosa	stomach

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