Variant report

Variant	rs2303890
Chromosome Location	chr2:183387612-183387613
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:183387256-183387847	HUVEC	blood vessel:	n/a	n/a
2	POLR2A	chr2:183387425-183387635	HUVEC	blood vessel:	n/a	n/a

Variant related genes	Relation type
PDE1A	TF binding region

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10497605	0.90[JPT][hapmap]
rs11883669	0.96[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11884886	0.96[CEU][hapmap];0.90[CHB][hapmap];0.91[JPT][hapmap];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11892848	0.96[CEU][hapmap];0.90[CHB][hapmap];0.90[JPT][hapmap];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12616179	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12616229	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12622605	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12623018	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12996626	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13008937	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13020976	0.81[ASN][1000 genomes]
rs13036034	0.85[AMR][1000 genomes]
rs13400207	0.89[ASN][1000 genomes]
rs1430142	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1430143	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1430144	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1430145	0.96[CEU][hapmap];0.90[CHB][hapmap];0.91[JPT][hapmap];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1430150	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.94[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1594305	0.90[JPT][hapmap]
rs17265294	0.89[CEU][hapmap];0.95[JPT][hapmap]
rs17265350	0.89[CEU][hapmap];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1835339	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1991596	0.89[JPT][hapmap]
rs2082136	0.90[JPT][hapmap]
rs2099185	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.81[YRI][hapmap];0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2368296	0.82[CEU][hapmap]
rs2368297	0.93[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.89[ASN][1000 genomes]
rs2368298	0.92[CEU][hapmap];0.90[CHB][hapmap];0.91[JPT][hapmap];0.89[ASN][1000 genomes]
rs2368299	0.96[CEU][hapmap];0.91[CHB][hapmap];0.90[JPT][hapmap];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2887208	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2887217	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.94[YRI][hapmap];0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2887218	0.85[JPT][hapmap]
rs34245807	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs35182213	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35361731	0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs3754928	0.81[ASN][1000 genomes]
rs4480955	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4629124	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.94[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4666586	0.85[CEU][hapmap]
rs4666587	0.92[CEU][hapmap];0.90[CHB][hapmap];0.91[JPT][hapmap];0.89[ASN][1000 genomes]
rs4666844	0.85[CEU][hapmap]
rs4666846	0.93[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.89[ASN][1000 genomes]
rs4666851	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55893866	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55986741	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs67259847	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6740244	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6747821	0.89[ASN][1000 genomes]
rs6758298	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6760589	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7563753	0.96[CEU][hapmap];0.86[CHB][hapmap];0.90[JPT][hapmap];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7578481	0.88[ASN][1000 genomes]
rs7578703	0.89[CEU][hapmap];0.90[CHB][hapmap];0.91[JPT][hapmap];0.88[ASN][1000 genomes]
rs7592388	0.88[ASN][1000 genomes]
rs7601804	0.89[CEU][hapmap];0.91[JPT][hapmap]
rs9332425	0.91[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533782	chr2:183059730-183500040	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv1009882	chr2:183213152-184171519	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	esv2830429	chr2:183300759-183545378	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3'	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	chr2:183361600-183392000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:183384600-183388400	Active TSS	Brain Inferior Temporal Lobe	brain
3	chr2:183384800-183387800	Active TSS	Fetal Brain Male	brain
4	chr2:183384800-183388800	Active TSS	Brain Angular Gyrus	brain
5	chr2:183385000-183388200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
6	chr2:183385000-183388400	Active TSS	Brain Hippocampus Middle	brain
7	chr2:183385200-183388200	Active TSS	Brain Cingulate Gyrus	brain
8	chr2:183385400-183388200	Active TSS	Brain Anterior Caudate	brain
9	chr2:183386600-183388200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr2:183386800-183387800	Weak transcription	Fetal Kidney	kidney
11	chr2:183386800-183388000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
12	chr2:183386800-183388200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr2:183386800-183388400	Active TSS	Brain Substantia Nigra	brain
14	chr2:183386800-183388600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr2:183387000-183388200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr2:183387000-183388200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr2:183387200-183387800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr2:183387200-183387800	Enhancers	Ovary	ovary
19	chr2:183387200-183388000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr2:183387200-183388000	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr2:183387200-183388200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
22	chr2:183387200-183388200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
23	chr2:183387200-183388200	Active TSS	Colon Smooth Muscle	Colon
24	chr2:183387200-183388200	Active TSS	Duodenum Smooth Muscle	Duodenum
25	chr2:183387200-183388200	Enhancers	Fetal Muscle Leg	muscle
26	chr2:183387200-183388200	Active TSS	HSMMtube	muscle
27	chr2:183387200-183388200	Enhancers	Osteobl	bone
28	chr2:183387200-183388400	Active TSS	NHLF	lung
29	chr2:183387400-183387800	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr2:183387400-183387800	Enhancers	iPS-20b Cell Line	embryonic stem cell
31	chr2:183387400-183387800	Active TSS	Primary hematopoietic stem cells	blood
32	chr2:183387400-183388000	Flanking Active TSS	Adipose Nuclei	Adipose
33	chr2:183387400-183388200	Active TSS	Rectal Mucosa Donor 29	rectum
34	chr2:183387400-183388200	Active TSS	Right Atrium	heart
35	chr2:183387400-183388200	Active TSS	Stomach Smooth Muscle	stomach
36	chr2:183387400-183388400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr2:183387600-183387800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr2:183387600-183387800	Active TSS	Brain Germinal Matrix	brain
39	chr2:183387600-183387800	Active TSS	Fetal Brain Female	brain
40	chr2:183387600-183387800	Active TSS	Fetal Stomach	stomach
41	chr2:183387600-183387800	Enhancers	HSMM	muscle
42	chr2:183387600-183387800	Flanking Active TSS	HUVEC	blood vessel
43	chr2:183387600-183387800	Flanking Active TSS	NHDF-Ad	bronchial
44	chr2:183387600-183388000	Active TSS	Psoas Muscle	Psoas
45	chr2:183387600-183388200	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
46	chr2:183387600-183388200	Active TSS	Fetal Muscle Trunk	muscle
47	chr2:183387600-183388200	Active TSS	Rectal Smooth Muscle	rectum
48	chr2:183387600-183390200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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