Variant report

Variant	rs4450595
Chromosome Location	chr2:152622603-152622604
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:152609521..152614454-chr2:152620655..152623899,5	K562	blood:
2	chr2:152612373..152614367-chr2:152620803..152623378,2	MCF-7	breast:
3	chr2:152614524..152619932-chr2:152620577..152626819,11	K562	blood:
4	chr2:152609521..152611955-chr2:152620722..152623899,3	K562	blood:
5	chr2:152620276..152622701-chr2:152638245..152641528,3	K562	blood:
6	chr2:152621355..152624044-chr2:152629210..152631031,2	K562	blood:

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs10165921	0.86[JPT][hapmap]
rs10171724	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10180065	0.99[ASN][1000 genomes]
rs10184063	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10185966	1.00[CEU][hapmap];0.82[CHB][hapmap];0.85[JPT][hapmap];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10198530	0.86[ASN][1000 genomes]
rs10198531	0.88[ASN][1000 genomes]
rs10754989	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11680834	0.81[YRI][hapmap]
rs11682909	1.00[CEU][hapmap];0.85[CHB][hapmap];0.95[JPT][hapmap];0.90[YRI][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11894672	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.90[YRI][hapmap];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11896217	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12464543	0.83[CHB][hapmap]
rs12470190	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12472627	0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs12693116	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13005519	0.81[YRI][hapmap]
rs1523181	1.00[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.90[YRI][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16830418	1.00[CEU][hapmap]
rs1916301	0.96[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs1916302	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2030588	1.00[CEU][hapmap];0.96[CHB][hapmap];0.95[JPT][hapmap];0.91[YRI][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2293221	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3768658	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.90[YRI][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3922996	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3922997	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4233654	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4266011	0.82[ASN][1000 genomes]
rs4300824	0.85[JPT][hapmap]
rs4303715	0.82[YRI][hapmap]
rs4306714	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4316939	0.82[JPT][hapmap]
rs4393745	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4414677	0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs4453694	1.00[CEU][hapmap];0.86[CHB][hapmap];0.90[JPT][hapmap];0.88[EUR][1000 genomes]
rs4465763	0.87[CHB][hapmap]
rs4510224	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4552188	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4605370	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4664066	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4664497	0.80[CHB][hapmap]
rs4664498	0.85[JPT][hapmap]
rs4664499	1.00[CEU][hapmap];0.86[CHB][hapmap];0.90[JPT][hapmap];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6433590	1.00[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6433656	0.81[YRI][hapmap]
rs6433680	1.00[CEU][hapmap]
rs6711382	0.86[JPT][hapmap]
rs6715027	0.81[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs6715607	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6716286	0.83[CHB][hapmap]
rs6718439	0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6740508	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6741567	1.00[CEU][hapmap];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6743968	1.00[CEU][hapmap]
rs6744121	0.80[ASN][1000 genomes]
rs6749823	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6755393	1.00[CEU][hapmap]
rs6759419	0.88[EUR][1000 genomes]
rs7424335	0.95[JPT][hapmap]
rs7557801	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7563441	0.84[CHB][hapmap]
rs7564630	0.81[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs7580820	0.89[ASN][1000 genomes]
rs7581532	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7583060	0.81[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs7583148	0.81[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs7592798	0.92[ASN][1000 genomes]
rs9287998	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9288006	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.86[EUR][1000 genomes];0.90[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	nsv934136	chr2:152308156-152664443	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	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
3	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

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:152611000-152632400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:152614600-152638000	Weak transcription	Pancreas	Pancrea
3	chr2:152615600-152623000	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr2:152616800-152644400	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr2:152616800-152662400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr2:152617000-152623000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr2:152617000-152632600	Weak transcription	Brain Hippocampus Middle	brain
8	chr2:152617000-152638000	Weak transcription	Esophagus	oesophagus
9	chr2:152617000-152669400	Weak transcription	Gastric	stomach
10	chr2:152617200-152622800	Weak transcription	Brain Anterior Caudate	brain
11	chr2:152618200-152631200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr2:152618400-152625200	Strong transcription	Aorta	Aorta
13	chr2:152618800-152623000	Weak transcription	HepG2	liver
14	chr2:152619000-152677400	Weak transcription	Brain Substantia Nigra	brain
15	chr2:152619200-152623200	Enhancers	Skeletal Muscle Male	skeletal muscle
16	chr2:152619800-152623200	Strong transcription	Placenta	Placenta
17	chr2:152619800-152623200	Weak transcription	NHDF-Ad	bronchial
18	chr2:152619800-152635800	Weak transcription	Fetal Brain Female	brain
19	chr2:152620000-152623000	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr2:152620200-152622800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr2:152620200-152623200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr2:152620200-152623200	Weak transcription	HSMMtube	muscle
23	chr2:152620200-152632000	Enhancers	Primary B cells from cord blood	blood
24	chr2:152620400-152624000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
25	chr2:152620800-152624800	Enhancers	HUVEC	blood vessel
26	chr2:152621200-152624200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
27	chr2:152621600-152623200	Weak transcription	Primary T cells from cord blood	blood
28	chr2:152621600-152627800	Weak transcription	Stomach Smooth Muscle	stomach
29	chr2:152621800-152624000	Enhancers	Primary T cells fromperipheralblood	blood
30	chr2:152622000-152622800	Weak transcription	Fetal Muscle Leg	muscle
31	chr2:152622000-152623400	Enhancers	Primary hematopoietic stem cells short term culture	blood
32	chr2:152622000-152624200	Enhancers	Fetal Lung	lung
33	chr2:152622000-152632800	Weak transcription	Primary neutrophils fromperipheralblood	blood
34	chr2:152622000-152632800	Weak transcription	Thymus	Thymus
35	chr2:152622200-152622800	Flanking Active TSS	Primary B cells from peripheral blood	blood
36	chr2:152622200-152622800	Genic enhancers	Skeletal Muscle Female	skeletal muscle
37	chr2:152622200-152623000	Enhancers	Spleen	Spleen
38	chr2:152622200-152623200	Enhancers	Fetal Muscle Trunk	muscle
39	chr2:152622200-152623400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr2:152622200-152623600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
41	chr2:152622200-152623600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr2:152622200-152624000	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr2:152622200-152624200	Enhancers	Left Ventricle	heart
44	chr2:152622200-152624400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr2:152622200-152624400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
46	chr2:152622200-152624800	Enhancers	Right Atrium	heart
47	chr2:152622200-152625200	Enhancers	Psoas Muscle	Psoas
48	chr2:152622200-152632200	Weak transcription	Fetal Intestine Large	intestine
49	chr2:152622200-152661800	Weak transcription	Fetal Kidney	kidney
50	chr2:152622400-152622800	Enhancers	Fetal Thymus	thymus

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