Variant report

Variant	rs10182533
Chromosome Location	chr2:152672843-152672844
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:152671480..152673477-chr2:152674012..152675938,2	K562	blood:
2	chr2:152640166..152642990-chr2:152671460..152673165,2	K562	blood:
3	chr2:152634127..152636194-chr2:152671394..152673328,2	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10169098	0.85[JPT][hapmap]
rs10172958	0.85[JPT][hapmap]
rs10497093	0.84[JPT][hapmap]
rs12992632	0.85[JPT][hapmap]
rs13396377	0.85[ASN][1000 genomes]
rs13404687	0.96[ASN][1000 genomes]
rs13417280	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];0.80[MKK][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2030589	0.85[JPT][hapmap]
rs2030590	0.84[JPT][hapmap]
rs2293222	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];0.86[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35555907	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3768656	0.85[JPT][hapmap]
rs4525690	0.85[JPT][hapmap]
rs5011044	0.92[ASN][1000 genomes]
rs6718396	0.94[ASN][1000 genomes]
rs6729878	0.85[JPT][hapmap]
rs7560854	0.85[JPT][hapmap]
rs7594616	0.85[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];0.86[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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
4	nsv820167	chr2:152668844-152673816	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	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	chr2:152619000-152677400	Weak transcription	Brain Substantia Nigra	brain
2	chr2:152623000-152680000	Weak transcription	Spleen	Spleen
3	chr2:152632200-152679200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr2:152634000-152683400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr2:152643400-152679000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr2:152644800-152676800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr2:152649000-152680200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr2:152654200-152683400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:152654400-152678000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr2:152654400-152679000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr2:152655400-152675200	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr2:152657000-152674800	Weak transcription	Esophagus	oesophagus
13	chr2:152658000-152681600	Weak transcription	Stomach Mucosa	stomach
14	chr2:152659000-152675000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr2:152659400-152683000	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr2:152660200-152675200	Strong transcription	Primary hematopoietic stem cells	blood
17	chr2:152661400-152683000	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr2:152662200-152681000	Weak transcription	Colonic Mucosa	Colon
19	chr2:152662800-152683000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr2:152663200-152674400	Weak transcription	Psoas Muscle	Psoas
21	chr2:152663200-152680000	Weak transcription	Rectal Smooth Muscle	rectum
22	chr2:152663400-152682200	Weak transcription	HSMMtube	muscle
23	chr2:152663400-152683000	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr2:152664600-152679400	Weak transcription	Osteobl	bone
25	chr2:152665000-152673000	Weak transcription	Fetal Heart	heart
26	chr2:152665600-152673600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr2:152665600-152674800	Weak transcription	Right Atrium	heart
28	chr2:152665600-152679600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr2:152666400-152673200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr2:152666400-152674000	Strong transcription	Primary B cells from cord blood	blood
31	chr2:152666800-152673000	Strong transcription	Primary T cells fromperipheralblood	blood
32	chr2:152667800-152674400	Weak transcription	Brain Hippocampus Middle	brain
33	chr2:152667800-152680000	Weak transcription	NHLF	lung
34	chr2:152667800-152682400	Weak transcription	Fetal Brain Male	brain
35	chr2:152668000-152673200	Strong transcription	HSMM	muscle
36	chr2:152668000-152678800	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr2:152668400-152674200	Weak transcription	Fetal Intestine Small	intestine
38	chr2:152668400-152674800	Weak transcription	Lung	lung
39	chr2:152668400-152675200	Strong transcription	Primary monocytes fromperipheralblood	blood
40	chr2:152668400-152680000	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr2:152668400-152683200	Weak transcription	Small Intestine	intestine
42	chr2:152668600-152674400	Strong transcription	Primary B cells from peripheral blood	blood
43	chr2:152668600-152675000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
44	chr2:152668600-152679200	Weak transcription	A549	lung
45	chr2:152668800-152673200	Strong transcription	HepG2	liver
46	chr2:152668800-152673800	Strong transcription	Primary T cells from cord blood	blood
47	chr2:152668800-152679200	Weak transcription	Brain Germinal Matrix	brain
48	chr2:152668800-152679200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr2:152668800-152680200	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr2:152669000-152673200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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