Variant report

Variant	rs3731852
Chromosome Location	chr2:37870937-37870938
allele	C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:37866118..37867665-chr2:37869743..37872565,2	MCF-7	breast:
2	chr2:37865948..37868247-chr2:37870789..37872523,2	K562	blood:
3	chr2:37869759..37872018-chr2:37878989..37880854,2	MCF-7	breast:

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs1013291	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs1013292	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10694	0.95[CHB][hapmap];0.86[JPT][hapmap];0.84[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs11124595	0.80[ASN][1000 genomes]
rs11883958	0.83[ASN][1000 genomes]
rs12622958	0.86[CEU][hapmap];0.87[CHB][hapmap];0.91[JPT][hapmap];0.86[ASN][1000 genomes]
rs13387842	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13392288	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs13406302	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13417833	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs13417957	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs1468663	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs1468664	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs17021174	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs2041508	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2072419	0.91[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2079998	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2098198	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2109821	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2109822	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2159726	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2191841	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2373290	0.96[ASN][1000 genomes]
rs2373292	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs3731854	1.00[CEU][hapmap];0.96[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4372883	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs4594425	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs4670210	0.91[CHB][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs4670211	0.82[ASN][1000 genomes]
rs4670745	0.80[AMR][1000 genomes]
rs4670748	0.91[CHB][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs56809883	0.82[ASN][1000 genomes]
rs6544095	0.91[CHB][hapmap];0.86[JPT][hapmap];0.82[ASN][1000 genomes]
rs6711909	0.87[CHB][hapmap];0.84[ASN][1000 genomes]
rs6722589	0.83[ASN][1000 genomes]
rs6740127	0.88[ASN][1000 genomes]
rs6752119	0.87[CHB][hapmap];0.84[ASN][1000 genomes]
rs6752220	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6752762	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6759224	0.83[CHB][hapmap];0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs7607934	0.83[CHB][hapmap];0.86[JPT][hapmap]
rs7735	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs9742	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757793	chr2:37796654-38138939	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	esv2759043	chr2:37796654-38138939	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv833825	chr2:37808169-37985917	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv535645	chr2:37853282-37972640	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv535646	chr2:37853282-38014428	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
6	nsv873880	chr2:37868214-37926046	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:37853600-37873200	Weak transcription	Liver	Liver
2	chr2:37853600-37897400	Weak transcription	Small Intestine	intestine
3	chr2:37857000-37871400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr2:37858800-37871400	Weak transcription	Aorta	Aorta
5	chr2:37860000-37871200	Weak transcription	Gastric	stomach
6	chr2:37860800-37873000	Weak transcription	Pancreas	Pancrea
7	chr2:37860800-37879600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr2:37863400-37875000	Weak transcription	Duodenum Mucosa	Duodenum
9	chr2:37863600-37871400	Weak transcription	Lung	lung
10	chr2:37863600-37873000	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr2:37864200-37871200	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr2:37864200-37871200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr2:37864200-37871400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr2:37864200-37871400	Weak transcription	Spleen	Spleen
15	chr2:37864200-37880200	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr2:37864400-37871400	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr2:37864400-37871400	Weak transcription	Adipose Nuclei	Adipose
18	chr2:37864400-37872000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr2:37864400-37879400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr2:37864600-37871000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr2:37865600-37873000	Weak transcription	Ovary	ovary
22	chr2:37866400-37871400	Weak transcription	Brain Germinal Matrix	brain
23	chr2:37866600-37875200	Genic enhancers	HSMM	muscle
24	chr2:37866800-37875000	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
25	chr2:37866800-37881000	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr2:37867000-37880600	Genic enhancers	Muscle Satellite Cultured Cells	--
27	chr2:37867200-37875000	Genic enhancers	NHDF-Ad	bronchial
28	chr2:37867400-37872800	Weak transcription	Fetal Muscle Trunk	muscle
29	chr2:37867400-37874800	Weak transcription	Fetal Intestine Small	intestine
30	chr2:37867600-37871200	Weak transcription	Placenta	Placenta
31	chr2:37867800-37871400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr2:37868000-37872800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr2:37868000-37873600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr2:37868000-37875200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
35	chr2:37868000-37876200	Genic enhancers	Osteobl	bone
36	chr2:37868200-37871400	Strong transcription	Primary T cells from cord blood	blood
37	chr2:37868200-37871400	Strong transcription	HMEC	breast
38	chr2:37868200-37872000	Genic enhancers	HSMMtube	muscle
39	chr2:37868200-37872000	Genic enhancers	NHLF	lung
40	chr2:37868200-37876200	Genic enhancers	NH-A	brain
41	chr2:37868400-37871200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr2:37868600-37871000	Enhancers	Pancreatic Islets	Pancreatic Islet
43	chr2:37868600-37871400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr2:37868600-37871400	Enhancers	Fetal Heart	heart
45	chr2:37868600-37875400	Weak transcription	Fetal Intestine Large	intestine
46	chr2:37868600-37879800	Genic enhancers	Primary monocytes fromperipheralblood	blood
47	chr2:37868800-37871800	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr2:37868800-37872600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr2:37868800-37873400	Strong transcription	Fetal Brain Female	brain
50	chr2:37868800-37874600	Genic enhancers	Primary neutrophils fromperipheralblood	blood

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