Variant report

Variant	rs699660
Chromosome Location	chr2:231384786-231384787
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs1102957	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1104327	0.96[EUR][1000 genomes]
rs13000851	0.96[EUR][1000 genomes]
rs1649876	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1649902	0.84[EUR][1000 genomes]
rs1649906	0.96[EUR][1000 genomes]
rs1649907	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1649908	0.96[EUR][1000 genomes]
rs1649909	0.93[EUR][1000 genomes]
rs1649910	0.86[EUR][1000 genomes]
rs1649921	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1649925	0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1678151	0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1678187	0.96[EUR][1000 genomes]
rs1678189	0.94[EUR][1000 genomes]
rs1678190	0.87[EUR][1000 genomes]
rs1678199	0.95[EUR][1000 genomes]
rs1678205	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1678210	0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1678211	0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2195196	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2219811	0.92[CEU][hapmap]
rs2434050	0.96[EUR][1000 genomes]
rs33078	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs33079	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4973324	0.94[EUR][1000 genomes]
rs4973325	0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62193433	0.82[ASN][1000 genomes]
rs62195461	0.96[EUR][1000 genomes]
rs6436942	0.87[EUR][1000 genomes]
rs6436944	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6436945	1.00[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];0.91[MEX][hapmap];0.94[TSI][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6717269	0.96[EUR][1000 genomes]
rs6724975	0.96[EUR][1000 genomes]
rs6740016	0.96[EUR][1000 genomes]
rs699661	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs836232	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs836236	0.96[EUR][1000 genomes]
rs836237	0.96[EUR][1000 genomes]
rs836238	0.96[EUR][1000 genomes]
rs836239	0.96[EUR][1000 genomes]
rs890668	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv18000	chr2:231072978-231467847	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv875948	chr2:231380697-231420401	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:231364600-231385800	Weak transcription	HSMMtube	muscle
2	chr2:231366600-231385200	Weak transcription	HMEC	breast
3	chr2:231370800-231389600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr2:231371000-231409800	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr2:231372400-231386200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr2:231375000-231385600	Weak transcription	HSMM	muscle
7	chr2:231375200-231390200	Weak transcription	Ovary	ovary
8	chr2:231376600-231384800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr2:231376600-231385000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr2:231376600-231385200	Weak transcription	Right Ventricle	heart
11	chr2:231376600-231385400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr2:231376600-231386000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr2:231376600-231390200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr2:231376600-231390400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr2:231377000-231385800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr2:231377800-231385200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr2:231378000-231390800	Weak transcription	Spleen	Spleen
18	chr2:231378200-231385200	Weak transcription	NH-A	brain
19	chr2:231378200-231385400	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr2:231378400-231384800	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr2:231378400-231384800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr2:231378400-231385200	Weak transcription	HUVEC	blood vessel
23	chr2:231378400-231385200	Weak transcription	Osteobl	bone
24	chr2:231378400-231386000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr2:231378600-231385000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr2:231378600-231385000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr2:231378600-231385200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr2:231379800-231385000	Weak transcription	Thymus	Thymus
29	chr2:231380400-231384800	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr2:231380400-231385200	Weak transcription	Adipose Nuclei	Adipose
31	chr2:231383600-231385400	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
32	chr2:231383800-231386800	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr2:231383800-231387200	ZNF genes & repeats	Primary B cells from cord blood	blood
34	chr2:231384000-231384800	Strong transcription	Primary T cells from cord blood	blood
35	chr2:231384000-231386600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr2:231384200-231385000	Strong transcription	Primary B cells from peripheral blood	blood
37	chr2:231384200-231386800	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
38	chr2:231384200-231387200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
39	chr2:231384400-231385000	Flanking Active TSS	Liver	Liver
40	chr2:231384400-231385200	Strong transcription	Left Ventricle	heart
41	chr2:231384400-231385200	ZNF genes & repeats	Small Intestine	intestine
42	chr2:231384400-231385600	Strong transcription	Primary neutrophils fromperipheralblood	blood
43	chr2:231384400-231386200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
44	chr2:231384600-231385000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr2:231384600-231385800	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
46	chr2:231384600-231386600	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
47	chr2:231384600-231386800	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
48	chr2:231384600-231386800	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood

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