Variant report

Variant	rs7596744
Chromosome Location	chr2:152664758-152664759
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:152655681..152658497-chr2:152663463..152665219,2	K562	blood:
2	chr2:152662842..152666419-chr2:152667793..152671423,3	K562	blood:
3	chr2:152505042..152505695-chr2:152664523..152665175,2	MCF-7	breast:
4	chr2:152656997..152660180-chr2:152663044..152665529,3	K562	blood:
5	chr2:152661672..152663988-chr2:152664069..152666559,3	MCF-7	breast:
6	chr2:152663598..152665100-chr2:152681522..152683558,2	K562	blood:

Extended variants
information (count: 61 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10167462	0.94[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.90[EUR][1000 genomes]
rs10170273	0.87[CEU][hapmap];0.83[CHD][hapmap];0.86[GIH][hapmap];0.94[JPT][hapmap]
rs10178880	0.87[CEU][hapmap];0.83[CHD][hapmap];0.84[GIH][hapmap];0.94[JPT][hapmap]
rs10193188	0.94[CEU][hapmap];0.88[CHD][hapmap];0.90[GIH][hapmap];0.94[JPT][hapmap]
rs1054883	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10930777	0.81[ASN][1000 genomes]
rs11683122	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11683683	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11692839	0.89[ASN][1000 genomes]
rs11695661	0.94[CEU][hapmap];0.95[GIH][hapmap];0.89[JPT][hapmap];0.80[MEX][hapmap]
rs12052828	0.93[CEU][hapmap];0.94[JPT][hapmap]
rs12464543	0.94[CEU][hapmap];0.93[GIH][hapmap];0.80[MEX][hapmap]
rs12472627	0.81[GIH][hapmap]
rs12616767	0.87[CEU][hapmap]
rs12620077	0.87[CEU][hapmap];0.83[CHD][hapmap];0.84[GIH][hapmap];0.94[JPT][hapmap]
rs13032138	0.87[CEU][hapmap];0.89[JPT][hapmap]
rs13404704	0.87[CEU][hapmap];0.83[JPT][hapmap]
rs1357468	0.93[CEU][hapmap];0.95[GIH][hapmap];0.83[LWK][hapmap];0.94[MEX][hapmap];0.87[MKK][hapmap];0.86[TSI][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1523180	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1799	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];0.95[TSI][hapmap];0.82[YRI][hapmap];0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2344733	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4077121	0.94[CEU][hapmap]
rs4077122	0.94[CEU][hapmap]
rs4267505	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4273217	0.93[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.90[YRI][hapmap];0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4309576	0.83[ASN][1000 genomes]
rs4374369	0.94[CEU][hapmap];0.94[JPT][hapmap]
rs4381781	0.94[CEU][hapmap];0.94[JPT][hapmap]
rs4413159	0.94[CEU][hapmap];0.95[GIH][hapmap];0.93[MEX][hapmap]
rs4414677	0.81[GIH][hapmap]
rs4425075	0.94[CEU][hapmap];0.80[CHB][hapmap];0.94[JPT][hapmap]
rs4465763	0.93[CEU][hapmap]
rs4536649	0.87[CEU][hapmap];0.84[GIH][hapmap]
rs4564766	0.94[CEU][hapmap];0.88[CHD][hapmap];0.93[GIH][hapmap];0.94[JPT][hapmap];0.93[MEX][hapmap]
rs4611637	0.94[CEU][hapmap];0.95[GIH][hapmap]
rs4614931	0.94[CEU][hapmap];0.97[GIH][hapmap];1.00[MEX][hapmap]
rs4625904	0.94[CEU][hapmap];0.80[CHB][hapmap];0.89[JPT][hapmap];0.80[ASN][1000 genomes]
rs4664494	0.84[GIH][hapmap];0.83[JPT][hapmap]
rs4664497	0.94[CEU][hapmap]
rs4664501	0.94[CEU][hapmap]
rs56229257	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6433569	0.88[CHD][hapmap];0.93[GIH][hapmap];0.94[JPT][hapmap];0.88[MEX][hapmap]
rs6433575	0.94[CEU][hapmap];0.94[JPT][hapmap]
rs6713162	0.87[CEU][hapmap];0.83[CHD][hapmap];0.81[GIH][hapmap];0.94[JPT][hapmap]
rs6716286	0.94[CEU][hapmap];0.95[GIH][hapmap]
rs6729101	1.00[CEU][hapmap];0.93[GIH][hapmap];0.91[TSI][hapmap];0.81[EUR][1000 genomes]
rs6730589	0.94[CEU][hapmap]
rs6733811	0.94[JPT][hapmap]
rs6733909	0.94[CEU][hapmap];0.88[CHD][hapmap];0.93[GIH][hapmap];0.94[JPT][hapmap]
rs6734148	0.94[CEU][hapmap];0.90[CHD][hapmap];0.95[GIH][hapmap];0.94[JPT][hapmap];0.93[MEX][hapmap]
rs6735208	0.94[CEU][hapmap];0.83[JPT][hapmap]
rs6760384	0.94[CEU][hapmap]
rs7426114	0.87[CEU][hapmap];0.85[CHD][hapmap];0.84[GIH][hapmap];0.94[JPT][hapmap];0.80[MEX][hapmap]
rs7563441	0.94[CEU][hapmap]
rs7564024	0.86[CEU][hapmap];0.83[GIH][hapmap]
rs7567785	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9287990	0.87[CEU][hapmap];0.81[GIH][hapmap]
rs9789671	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7596744	NEB	cis	parietal	SCAN

Chromatin state (count:123 , 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	chr2:152631400-152667200	Weak transcription	Colon Smooth Muscle	Colon
5	chr2:152632200-152679200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr2:152634000-152665400	Weak transcription	Fetal Stomach	stomach
7	chr2:152634000-152683400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr2:152634800-152672200	Weak transcription	Right Ventricle	heart
9	chr2:152638600-152665200	Weak transcription	Pancreas	Pancrea
10	chr2:152638600-152671000	Weak transcription	Thymus	Thymus
11	chr2:152638800-152665200	Weak transcription	Fetal Intestine Small	intestine
12	chr2:152638800-152668200	Weak transcription	Lung	lung
13	chr2:152638800-152672800	Weak transcription	Aorta	Aorta
14	chr2:152642000-152665400	Weak transcription	Brain Cingulate Gyrus	brain
15	chr2:152642200-152670400	Weak transcription	Brain Angular Gyrus	brain
16	chr2:152643000-152668200	Weak transcription	NHDF-Ad	bronchial
17	chr2:152643400-152679000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr2:152644800-152676800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr2:152649000-152680200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr2:152654200-152683400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr2:152654400-152678000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr2:152654400-152679000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr2:152655400-152671400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr2:152655400-152675200	Strong transcription	Monocytes-CD14+_RO01746	blood
25	chr2:152656600-152671600	Strong transcription	HUES48 Cell Line	embryonic stem cell
26	chr2:152656600-152672400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr2:152656800-152665200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr2:152656800-152665400	Strong transcription	HepG2	liver
29	chr2:152656800-152672400	Strong transcription	HUES64 Cell Line	embryonic stem cell
30	chr2:152657000-152672400	Strong transcription	Placenta	Placenta
31	chr2:152657000-152674800	Weak transcription	Esophagus	oesophagus
32	chr2:152657400-152672800	Strong transcription	Dnd41	blood
33	chr2:152657800-152665200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
34	chr2:152658000-152681600	Weak transcription	Stomach Mucosa	stomach
35	chr2:152658400-152669200	Weak transcription	Hela-S3	cervix
36	chr2:152658600-152667400	Weak transcription	Small Intestine	intestine
37	chr2:152659000-152665800	Strong transcription	GM12878-XiMat	blood
38	chr2:152659000-152671800	Strong transcription	K562	blood
39	chr2:152659000-152675000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr2:152659400-152683000	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr2:152659600-152667000	Weak transcription	Fetal Brain Male	brain
42	chr2:152659600-152668000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr2:152660200-152672800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr2:152660200-152675200	Strong transcription	Primary hematopoietic stem cells	blood
45	chr2:152660400-152667000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr2:152661000-152665800	Strong transcription	HSMM	muscle
47	chr2:152661400-152683000	Weak transcription	Pancreatic Islets	Pancreatic Islet
48	chr2:152662200-152681000	Weak transcription	Colonic Mucosa	Colon
49	chr2:152662800-152665200	Weak transcription	Left Ventricle	heart
50	chr2:152662800-152668400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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