Variant report

Variant	rs12464480
Chromosome Location	chr2:173323838-173323839
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1076594	0.85[CEU][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs1076596	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1076597	0.84[CEU][hapmap]
rs11896937	1.00[ASW][hapmap]
rs12613307	0.82[ASN][1000 genomes]
rs12616256	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12622724	0.82[CHD][hapmap];0.82[ASN][1000 genomes]
rs12622816	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16860450	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2357411	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs34526119	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34679972	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35180608	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35288169	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35700760	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35783685	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35821653	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35861954	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs36040769	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3792256	1.00[ASW][hapmap];0.84[MKK][hapmap]
rs4972511	1.00[ASW][hapmap]
rs4972840	0.83[CEU][hapmap]
rs59300838	0.84[ASN][1000 genomes]
rs6433359	1.00[ASW][hapmap];0.84[MKK][hapmap]
rs6728419	0.81[MKK][hapmap]
rs68069880	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7591769	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533927	chr2:173161637-173796894	Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173315200-173324800	Genic enhancers	NHEK	skin
2	chr2:173317200-173325400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
3	chr2:173317600-173326000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:173317600-173326000	Weak transcription	Brain Substantia Nigra	brain
5	chr2:173318800-173326200	Enhancers	Primary T helper cells fromperipheralblood	blood
6	chr2:173319200-173330600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr2:173319600-173324800	Enhancers	Fetal Thymus	thymus
8	chr2:173319800-173326400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr2:173320000-173325400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr2:173320200-173326600	Enhancers	Duodenum Mucosa	Duodenum
11	chr2:173320400-173324400	Weak transcription	HUVEC	blood vessel
12	chr2:173320600-173327200	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr2:173320800-173325400	Enhancers	HMEC	breast
14	chr2:173320800-173326200	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr2:173321000-173324400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr2:173321000-173325400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr2:173321000-173326000	Weak transcription	HepG2	liver
18	chr2:173321000-173326400	Weak transcription	Right Ventricle	heart
19	chr2:173321000-173328000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr2:173321200-173324400	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr2:173321200-173324400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr2:173321200-173324600	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr2:173321200-173325200	Weak transcription	Hela-S3	cervix
24	chr2:173321200-173325400	Enhancers	Primary T helper naive cells from peripheral blood	blood
25	chr2:173321200-173325800	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr2:173321200-173325800	Enhancers	Primary T helper cells PMA-I stimulated	--
27	chr2:173321200-173326200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr2:173321200-173326200	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr2:173321200-173326400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr2:173321200-173327400	Weak transcription	Small Intestine	intestine
31	chr2:173321400-173324400	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr2:173321400-173324400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr2:173321400-173324400	Weak transcription	Pancreas	Pancrea
34	chr2:173321400-173325400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
35	chr2:173321400-173325400	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr2:173321400-173325600	Weak transcription	Adipose Nuclei	Adipose
37	chr2:173321400-173325800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr2:173321400-173325800	Weak transcription	Brain Hippocampus Middle	brain
39	chr2:173321400-173326000	Weak transcription	Fetal Intestine Large	intestine
40	chr2:173321400-173326200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr2:173321400-173326200	Weak transcription	Gastric	stomach
42	chr2:173321400-173326200	Weak transcription	Lung	lung
43	chr2:173321400-173326200	Weak transcription	Right Atrium	heart
44	chr2:173321400-173326400	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr2:173321400-173327000	Weak transcription	Placenta	Placenta
46	chr2:173321400-173356000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr2:173322000-173325600	Enhancers	Primary T killer memory cells from peripheral blood	blood
48	chr2:173322200-173326200	Enhancers	Breast Myoepithelial Primary Cells	Breast
49	chr2:173322200-173326400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
50	chr2:173322400-173324000	Enhancers	Thymus	Thymus

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