Variant report

Variant	rs10179630
Chromosome Location	chr2:152672254-152672255
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:152667073..152668792-chr2:152670517..152672441,2	K562	blood:
2	chr2:152671480..152673477-chr2:152674012..152675938,2	K562	blood:
3	chr2:152640166..152642990-chr2:152671460..152673165,2	K562	blood:
4	chr2:152634127..152636194-chr2:152671394..152673328,2	K562	blood:

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10169098	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10172958	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10173570	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10174624	0.85[ASN][1000 genomes]
rs10186879	0.96[ASN][1000 genomes]
rs10190733	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10198509	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10204195	0.92[ASN][1000 genomes]
rs10210114	0.96[ASN][1000 genomes]
rs10497093	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11692567	0.81[ASN][1000 genomes]
rs12328396	0.88[ASN][1000 genomes]
rs12693126	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12992632	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12994595	1.00[ASN][1000 genomes]
rs13384856	0.88[ASN][1000 genomes]
rs13386934	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13395294	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13396041	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13402710	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13404687	0.98[EUR][1000 genomes]
rs13408513	0.92[ASN][1000 genomes]
rs13414130	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13416266	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13421183	0.88[ASN][1000 genomes]
rs13427102	0.81[ASN][1000 genomes]
rs13428623	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16830358	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16830400	1.00[ASN][1000 genomes]
rs2030589	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2030590	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34629725	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36111287	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36141926	0.92[ASN][1000 genomes]
rs3768656	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4436952	0.96[ASN][1000 genomes]
rs4525690	0.92[ASN][1000 genomes]
rs62174407	0.80[AFR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62174408	0.80[AFR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62174411	1.00[ASN][1000 genomes]
rs6433628	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6729878	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6750638	0.96[ASN][1000 genomes]
rs6754783	0.96[ASN][1000 genomes]
rs7560854	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7565109	0.96[ASN][1000 genomes]
rs7591340	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	chr2:152638800-152672800	Weak transcription	Aorta	Aorta
6	chr2:152643400-152679000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr2:152644800-152676800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr2:152649000-152680200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr2:152654200-152683400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr2:152654400-152678000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr2:152654400-152679000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr2:152655400-152675200	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr2:152656600-152672400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr2:152656800-152672400	Strong transcription	HUES64 Cell Line	embryonic stem cell
15	chr2:152657000-152672400	Strong transcription	Placenta	Placenta
16	chr2:152657000-152674800	Weak transcription	Esophagus	oesophagus
17	chr2:152657400-152672800	Strong transcription	Dnd41	blood
18	chr2:152658000-152681600	Weak transcription	Stomach Mucosa	stomach
19	chr2:152659000-152675000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr2:152659400-152683000	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr2:152660200-152672800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr2:152660200-152675200	Strong transcription	Primary hematopoietic stem cells	blood
23	chr2:152661400-152683000	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr2:152662200-152681000	Weak transcription	Colonic Mucosa	Colon
25	chr2:152662800-152683000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr2:152663200-152674400	Weak transcription	Psoas Muscle	Psoas
27	chr2:152663200-152680000	Weak transcription	Rectal Smooth Muscle	rectum
28	chr2:152663400-152682200	Weak transcription	HSMMtube	muscle
29	chr2:152663400-152683000	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr2:152664600-152679400	Weak transcription	Osteobl	bone
31	chr2:152665000-152673000	Weak transcription	Fetal Heart	heart
32	chr2:152665400-152672600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
33	chr2:152665600-152672400	Weak transcription	Left Ventricle	heart
34	chr2:152665600-152672400	Weak transcription	Pancreas	Pancrea
35	chr2:152665600-152673600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr2:152665600-152674800	Weak transcription	Right Atrium	heart
37	chr2:152665600-152679600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
38	chr2:152666400-152672800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr2:152666400-152673200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr2:152666400-152674000	Strong transcription	Primary B cells from cord blood	blood
41	chr2:152666800-152672600	Strong transcription	Adipose Nuclei	Adipose
42	chr2:152666800-152672800	Strong transcription	HUES6 Cell Line	embryonic stem cell
43	chr2:152666800-152672800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr2:152666800-152672800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr2:152666800-152672800	Strong transcription	Primary T helper cells fromperipheralblood	blood
46	chr2:152666800-152673000	Strong transcription	Primary T cells fromperipheralblood	blood
47	chr2:152667200-152672400	Strong transcription	Duodenum Mucosa	Duodenum
48	chr2:152667400-152672400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr2:152667800-152674400	Weak transcription	Brain Hippocampus Middle	brain
50	chr2:152667800-152680000	Weak transcription	NHLF	lung

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