Variant report

Variant	rs3770043
Chromosome Location	chr2:178618594-178618595
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:178616347..178619480-chr2:178623071..178625301,3	K562	blood:
2	chr2:178617088..178619453-chr2:178625433..178628284,2	K562	blood:
3	chr2:178615690..178619114-chr2:178629203..178632242,4	K562	blood:
4	chr2:178593465..178594969-chr2:178617292..178619155,2	K562	blood:
5	chr2:178605851..178612648-chr2:178616931..178621245,6	K562	blood:
6	chr2:178598484..178600375-chr2:178617502..178619853,2	MCF-7	breast:
7	chr2:178613827..178616533-chr2:178617278..178619906,2	K562	blood:

No data

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10175364	0.85[JPT][hapmap]
rs10497488	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10497489	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs10930806	0.90[ASN][1000 genomes]
rs11684634	0.85[JPT][hapmap]
rs12622125	1.00[JPT][hapmap]
rs13031632	0.90[ASN][1000 genomes]
rs13428806	0.85[JPT][hapmap]
rs1344925	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs1370655	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs1438038	0.84[JPT][hapmap]
rs1438039	0.85[JPT][hapmap]
rs1438041	1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs1438048	0.85[JPT][hapmap]
rs1561319	0.85[JPT][hapmap]
rs1561320	0.85[JPT][hapmap]
rs16865764	1.00[CEU][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs16865769	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16865791	0.85[JPT][hapmap]
rs17400325	0.89[AMR][1000 genomes]
rs1866208	0.85[JPT][hapmap]
rs1866209	0.85[JPT][hapmap]
rs1866210	0.85[JPT][hapmap]
rs1946812	0.85[JPT][hapmap]
rs2164857	0.85[JPT][hapmap]
rs2886498	0.85[JPT][hapmap]
rs34952652	0.90[ASN][1000 genomes]
rs3754991	1.00[JPT][hapmap]
rs3754993	0.85[JPT][hapmap]
rs3770028	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs3770034	0.85[JPT][hapmap]
rs3770047	0.85[JPT][hapmap]
rs3821007	1.00[CEU][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3821009	0.85[JPT][hapmap]
rs4893839	0.85[JPT][hapmap]
rs4893840	0.85[JPT][hapmap]
rs4893987	1.00[JPT][hapmap]
rs57242051	0.93[EUR][1000 genomes]
rs57427125	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57877880	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58408943	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59657949	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs60748325	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61334857	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs61551597	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs62183002	0.89[AMR][1000 genomes]
rs62183005	0.94[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs62183040	0.94[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs62183042	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs62183043	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs6704720	1.00[CEU][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6704966	0.83[YRI][hapmap]
rs6731237	1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs6756240	0.82[JPT][hapmap]
rs73030327	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73030354	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs749208	0.85[JPT][hapmap]
rs7562835	1.00[JPT][hapmap]
rs7566399	0.85[YRI][hapmap]
rs7567851	0.85[JPT][hapmap]
rs7591504	0.85[YRI][hapmap]
rs934798	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs998059	0.85[JPT][hapmap]

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	nsv999086	chr2:178262348-178773585	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv536055	chr2:178262348-178773585	Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:178610600-178628200	Weak transcription	Pancreas	Pancrea
2	chr2:178610800-178618800	Weak transcription	Fetal Muscle Trunk	muscle
3	chr2:178614800-178624000	Enhancers	Fetal Muscle Leg	muscle
4	chr2:178617000-178619200	Enhancers	Fetal Kidney	kidney
5	chr2:178617400-178620000	Enhancers	Colon Smooth Muscle	Colon
6	chr2:178617600-178619600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:178617600-178619800	Enhancers	Pancreatic Islets	Pancreatic Islet
8	chr2:178617800-178619200	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr2:178617800-178619400	Enhancers	Fetal Heart	heart
10	chr2:178617800-178619600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr2:178617800-178621600	Enhancers	Ovary	ovary
12	chr2:178617800-178624000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr2:178617800-178624000	Enhancers	Fetal Lung	lung
14	chr2:178618000-178619200	Enhancers	Rectal Smooth Muscle	rectum
15	chr2:178618200-178618800	Enhancers	Stomach Smooth Muscle	stomach
16	chr2:178618200-178619400	Enhancers	Brain Hippocampus Middle	brain
17	chr2:178618200-178619600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr2:178618200-178619600	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr2:178618200-178619800	Enhancers	Adipose Nuclei	Adipose
20	chr2:178618200-178620400	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr2:178618200-178621400	Enhancers	Fetal Thymus	thymus
22	chr2:178618200-178621600	Enhancers	K562	blood
23	chr2:178618200-178623600	Enhancers	Fetal Stomach	stomach
24	chr2:178618400-178618600	Enhancers	Fetal Intestine Small	intestine
25	chr2:178618400-178618600	Enhancers	Stomach Mucosa	stomach
26	chr2:178618400-178618800	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr2:178618400-178619200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr2:178618400-178619200	Enhancers	Brain Anterior Caudate	brain
29	chr2:178618400-178619400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr2:178618400-178619400	Enhancers	HSMMtube	muscle
31	chr2:178618400-178619600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr2:178618400-178619600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr2:178618400-178619600	Enhancers	Duodenum Smooth Muscle	Duodenum
34	chr2:178618400-178619600	Enhancers	Lung	lung
35	chr2:178618400-178619600	Enhancers	Psoas Muscle	Psoas
36	chr2:178618400-178619600	Enhancers	Right Atrium	heart
37	chr2:178618400-178619800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr2:178618400-178620000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr2:178618400-178620200	Enhancers	Right Ventricle	heart
40	chr2:178618400-178620400	Enhancers	Left Ventricle	heart
41	chr2:178618400-178620600	Enhancers	Placenta	Placenta
42	chr2:178618400-178623200	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr2:178618400-178628200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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