Variant report

Variant	rs2030588
Chromosome Location	chr2:152668750-152668751
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:152662842..152666419-chr2:152667793..152671423,3	K562	blood:
2	chr2:152667073..152668792-chr2:152670517..152672441,2	K562	blood:
3	chr2:152667156..152669277-chr2:152683562..152686804,3	K562	blood:
4	chr2:152667501..152670036-chr2:152673643..152675792,3	K562	blood:
5	chr2:152667156..152671045-chr2:152683562..152687272,7	K562	blood:
6	chr2:152668478..152670762-chr2:152674292..152676258,2	K562	blood:

Variant related genes	Relation type
ENSG00000162980	Chromatin interaction

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10165921	0.83[JPT][hapmap]
rs10171724	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10180065	0.88[ASN][1000 genomes]
rs10184063	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10185966	1.00[CEU][hapmap];0.81[JPT][hapmap]
rs10198530	0.89[ASN][1000 genomes]
rs10198531	0.91[ASN][1000 genomes]
rs10754989	0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11680834	0.90[YRI][hapmap];0.83[AFR][1000 genomes]
rs11682909	1.00[CEU][hapmap];0.90[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11894672	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11896217	1.00[CEU][hapmap];0.87[CHB][hapmap];0.95[JPT][hapmap];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12470190	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12472627	1.00[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs12693116	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13005519	0.90[YRI][hapmap];0.84[AFR][1000 genomes]
rs1523181	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16830418	1.00[CEU][hapmap]
rs1916301	1.00[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs1916302	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2293221	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3768658	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3922996	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3922997	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4233654	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4300824	0.81[JPT][hapmap]
rs4303715	0.91[YRI][hapmap];0.83[AFR][1000 genomes]
rs4306714	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4393745	1.00[CEU][hapmap];0.87[CHB][hapmap];0.95[JPT][hapmap];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4414677	1.00[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs4450595	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4453694	1.00[CEU][hapmap];0.82[CHB][hapmap];0.86[JPT][hapmap]
rs4465763	0.82[CHB][hapmap]
rs4510224	1.00[CEU][hapmap];0.87[CHB][hapmap];0.95[JPT][hapmap];0.83[EUR][1000 genomes]
rs4552188	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4605370	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4664066	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.90[YRI][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4664498	0.81[JPT][hapmap]
rs4664499	1.00[CEU][hapmap];0.82[CHB][hapmap];0.86[JPT][hapmap]
rs6433590	1.00[CEU][hapmap];0.87[CHB][hapmap];0.87[JPT][hapmap]
rs6433656	0.90[YRI][hapmap];0.82[AFR][1000 genomes]
rs6433680	1.00[CEU][hapmap]
rs6711382	0.81[JPT][hapmap]
rs6715027	0.87[ASN][1000 genomes]
rs6715607	0.80[ASN][1000 genomes]
rs6718439	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6740508	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6741567	1.00[CEU][hapmap]
rs6743968	1.00[CEU][hapmap]
rs6755393	1.00[CEU][hapmap]
rs7424335	0.91[JPT][hapmap]
rs7564630	0.88[ASN][1000 genomes]
rs7580820	0.87[AFR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7581532	0.84[ASN][1000 genomes]
rs7583060	0.88[ASN][1000 genomes]
rs7583148	0.88[ASN][1000 genomes]
rs7592798	0.94[ASN][1000 genomes]
rs9287998	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9288006	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.82[YRI][hapmap];0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]

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	nsv1005746	chr2:152361972-153059840	Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv535984	chr2:152361972-153059840	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	esv3693430	chr2:152648677-152681200	ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:152617000-152669400	Weak transcription	Gastric	stomach
2	chr2:152619000-152677400	Weak transcription	Brain Substantia Nigra	brain
3	chr2:152623000-152680000	Weak transcription	Spleen	Spleen
4	chr2:152632200-152679200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr2:152634000-152683400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr2:152634800-152672200	Weak transcription	Right Ventricle	heart
7	chr2:152638600-152671000	Weak transcription	Thymus	Thymus
8	chr2:152638800-152672800	Weak transcription	Aorta	Aorta
9	chr2:152642200-152670400	Weak transcription	Brain Angular Gyrus	brain
10	chr2:152643400-152679000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr2:152644800-152676800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr2:152649000-152680200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr2:152654200-152683400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr2:152654400-152678000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr2:152654400-152679000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr2:152655400-152671400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr2:152655400-152675200	Strong transcription	Monocytes-CD14+_RO01746	blood
18	chr2:152656600-152671600	Strong transcription	HUES48 Cell Line	embryonic stem cell
19	chr2:152656600-152672400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr2:152656800-152672400	Strong transcription	HUES64 Cell Line	embryonic stem cell
21	chr2:152657000-152672400	Strong transcription	Placenta	Placenta
22	chr2:152657000-152674800	Weak transcription	Esophagus	oesophagus
23	chr2:152657400-152672800	Strong transcription	Dnd41	blood
24	chr2:152658000-152681600	Weak transcription	Stomach Mucosa	stomach
25	chr2:152658400-152669200	Weak transcription	Hela-S3	cervix
26	chr2:152659000-152671800	Strong transcription	K562	blood
27	chr2:152659000-152675000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr2:152659400-152683000	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr2:152660200-152672800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr2:152660200-152675200	Strong transcription	Primary hematopoietic stem cells	blood
31	chr2:152661400-152683000	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr2:152662200-152681000	Weak transcription	Colonic Mucosa	Colon
33	chr2:152662800-152683000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr2:152663200-152669800	Weak transcription	HMEC	breast
35	chr2:152663200-152674400	Weak transcription	Psoas Muscle	Psoas
36	chr2:152663200-152680000	Weak transcription	Rectal Smooth Muscle	rectum
37	chr2:152663400-152682200	Weak transcription	HSMMtube	muscle
38	chr2:152663400-152683000	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr2:152664200-152672000	Weak transcription	NHEK	skin
40	chr2:152664600-152679400	Weak transcription	Osteobl	bone
41	chr2:152665000-152673000	Weak transcription	Fetal Heart	heart
42	chr2:152665200-152669800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr2:152665400-152669200	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr2:152665400-152672600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
45	chr2:152665600-152672400	Weak transcription	Left Ventricle	heart
46	chr2:152665600-152672400	Weak transcription	Pancreas	Pancrea
47	chr2:152665600-152673600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr2:152665600-152674800	Weak transcription	Right Atrium	heart
49	chr2:152665600-152679600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
50	chr2:152665800-152669400	Weak transcription	Brain Cingulate Gyrus	brain

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