Variant report

Variant	rs12031458
Chromosome Location	chr1:150630401-150630402
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:150629283..150630798-chr1:150634001..150635875,2	K562	blood:
2	chr1:150625154..150626855-chr1:150630083..150631947,2	K562	blood:

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs1053701	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10788795	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11204674	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11204689	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11204700	0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11204714	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11204715	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11204727	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11576175	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11585460	0.83[EUR][1000 genomes]
rs12032445	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12034302	0.93[AMR][1000 genomes]
rs12036914	0.93[AMR][1000 genomes]
rs12038403	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12045807	0.90[EUR][1000 genomes]
rs16840074	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1932864	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3754207	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4970970	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55890313	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61817598	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61817599	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61817600	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61820168	0.82[EUR][1000 genomes]
rs61820170	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6587515	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6587517	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6661100	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6672667	0.93[AMR][1000 genomes]
rs6684611	0.87[ASN][1000 genomes]
rs6692277	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6696167	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72704624	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7517	0.93[EUR][1000 genomes]
rs7520511	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7520516	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7535975	0.87[EUR][1000 genomes];0.95[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	nsv1006838	chr1:150440214-150722783	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	175 gene(s)	inside rSNPs	diseases
2	esv2829859	chr1:150608894-150937329	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv872417	chr1:150618632-150759979	Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:150603200-150661200	Weak transcription	Brain Substantia Nigra	brain
2	chr1:150603400-150668200	Weak transcription	Brain Germinal Matrix	brain
3	chr1:150608600-150668600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr1:150612600-150634400	Weak transcription	Psoas Muscle	Psoas
5	chr1:150615000-150631000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr1:150616200-150634400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr1:150618800-150660400	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr1:150619200-150637800	Weak transcription	Fetal Heart	heart
9	chr1:150620200-150634200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr1:150620800-150632200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr1:150621000-150635600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr1:150621000-150640400	Weak transcription	Small Intestine	intestine
13	chr1:150621000-150660800	Weak transcription	Colon Smooth Muscle	Colon
14	chr1:150621200-150630800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr1:150621200-150632200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr1:150621200-150632200	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr1:150621200-150632800	Weak transcription	K562	blood
18	chr1:150621200-150632800	Weak transcription	NHLF	lung
19	chr1:150621200-150633200	Weak transcription	HMEC	breast
20	chr1:150621200-150633800	Weak transcription	NH-A	brain
21	chr1:150621200-150660400	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr1:150621200-150664800	Weak transcription	Fetal Brain Female	brain
23	chr1:150621200-150665000	Weak transcription	Fetal Kidney	kidney
24	chr1:150621200-150669400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr1:150621400-150632800	Weak transcription	Brain Hippocampus Middle	brain
26	chr1:150621400-150634400	Weak transcription	Brain Anterior Caudate	brain
27	chr1:150621400-150635200	Weak transcription	GM12878-XiMat	blood
28	chr1:150621400-150637000	Weak transcription	Fetal Brain Male	brain
29	chr1:150621400-150639400	Weak transcription	HepG2	liver
30	chr1:150621400-150644200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
31	chr1:150621400-150660400	Weak transcription	HSMM	muscle
32	chr1:150621600-150630600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr1:150621600-150633800	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr1:150621600-150639600	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr1:150621800-150631000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr1:150621800-150661200	Weak transcription	NHDF-Ad	bronchial
37	chr1:150621800-150668600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr1:150622000-150630600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr1:150622000-150630800	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr1:150622000-150630800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr1:150622000-150631000	Weak transcription	Placenta	Placenta
42	chr1:150622000-150631800	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr1:150622000-150632600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
44	chr1:150622000-150633000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr1:150622000-150633000	Weak transcription	Osteobl	bone
46	chr1:150622000-150634000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr1:150622000-150661400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr1:150622000-150668600	Weak transcription	HSMMtube	muscle
49	chr1:150622000-150669400	Weak transcription	Esophagus	oesophagus
50	chr1:150622200-150630600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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