Variant report

Variant	rs12465282
Chromosome Location	chr2:36619764-36619765
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:36612565..36614901-chr2:36618563..36620425,2	K562	blood:

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10178804	1.00[CHB][hapmap]
rs10186135	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10203010	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11124514	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11124515	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11124516	0.88[CEU][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1159133	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12465297	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12477836	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12994926	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13394052	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13407488	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2113632	0.81[EUR][1000 genomes]
rs2161904	0.81[EUR][1000 genomes]
rs2689711	1.00[JPT][hapmap]
rs3755214	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3770913	0.84[CEU][hapmap];0.88[EUR][1000 genomes]
rs3770924	0.85[CEU][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3770932	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3770936	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3770946	0.92[CEU][hapmap];1.00[JPT][hapmap]
rs3770947	0.92[CEU][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs3770963	0.81[EUR][1000 genomes]
rs4233914	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4670547	1.00[CHB][hapmap]
rs4670548	0.84[EUR][1000 genomes]
rs4670554	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6711707	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6755048	0.85[CEU][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs711255	1.00[JPT][hapmap]
rs7589917	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs848508	1.00[JPT][hapmap]
rs848513	1.00[JPT][hapmap]
rs848514	1.00[JPT][hapmap]
rs888075	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs888076	0.88[CEU][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes]
rs9308991	1.00[CHB][hapmap]
rs9308992	1.00[CHB][hapmap]
rs997602	1.00[CHB][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833803	chr2:36589065-36745779	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:36586200-36626600	Weak transcription	Primary B cells from cord blood	blood
2	chr2:36604400-36620600	Weak transcription	Fetal Brain Male	brain
3	chr2:36604400-36640400	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr2:36604400-36640600	Weak transcription	Brain Cingulate Gyrus	brain
5	chr2:36604600-36620800	Weak transcription	Brain Hippocampus Middle	brain
6	chr2:36607600-36620800	Weak transcription	Pancreas	Pancrea
7	chr2:36609200-36619800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr2:36609400-36620000	Weak transcription	Lung	lung
9	chr2:36611600-36619800	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr2:36611600-36632400	Weak transcription	Esophagus	oesophagus
11	chr2:36611600-36635400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr2:36613000-36624000	Weak transcription	Small Intestine	intestine
13	chr2:36614800-36620000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr2:36614800-36620200	Weak transcription	Right Ventricle	heart
15	chr2:36614800-36621400	Weak transcription	Stomach Mucosa	stomach
16	chr2:36616400-36620800	Weak transcription	Right Atrium	heart
17	chr2:36616400-36621000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr2:36616600-36619800	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr2:36616600-36620200	Weak transcription	Brain Germinal Matrix	brain
20	chr2:36616600-36620800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr2:36616800-36620800	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr2:36616800-36624200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr2:36616800-36631200	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr2:36616800-36635000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr2:36617000-36619800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr2:36617000-36620000	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr2:36617000-36620000	Weak transcription	Brain Anterior Caudate	brain
28	chr2:36617000-36620200	Weak transcription	Fetal Brain Female	brain
29	chr2:36617000-36620800	Weak transcription	Ovary	ovary
30	chr2:36617000-36633400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr2:36617200-36619800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr2:36617200-36620000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr2:36617200-36620000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr2:36617200-36620000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr2:36617200-36620000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr2:36617200-36620000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr2:36617200-36620000	Weak transcription	Left Ventricle	heart
38	chr2:36617200-36620000	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr2:36617200-36620000	Weak transcription	Stomach Smooth Muscle	stomach
40	chr2:36617200-36620000	Weak transcription	Spleen	Spleen
41	chr2:36617200-36620000	Weak transcription	HMEC	breast
42	chr2:36617200-36622200	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr2:36617200-36623800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr2:36617200-36624000	Weak transcription	Fetal Intestine Large	intestine
45	chr2:36617200-36624000	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr2:36617200-36625000	Weak transcription	Fetal Intestine Small	intestine
47	chr2:36617200-36630800	Weak transcription	Rectal Smooth Muscle	rectum
48	chr2:36617200-36631200	Weak transcription	Fetal Kidney	kidney
49	chr2:36617200-36633800	Weak transcription	Fetal Lung	lung
50	chr2:36617400-36620000	Weak transcription	Hela-S3	cervix

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