Variant report

Variant	rs4970970
Chromosome Location	chr1:150637953-150637954
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:150636276..150639175-chr1:150642084..150645349,3	K562	blood:
2	chr1:150609825..150611658-chr1:150637260..150639544,2	MCF-7	breast:

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs1053701	0.90[EUR][1000 genomes]
rs10788795	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11204674	0.83[EUR][1000 genomes]
rs11204689	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11204700	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes];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]
rs12031458	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12032445	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12038403	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[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55890313	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	0.82[EUR][1000 genomes]
rs6587515	0.93[EUR][1000 genomes]
rs6587517	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6661100	0.83[EUR][1000 genomes];0.87[ASN][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	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7520516	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes];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:113 , 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	chr1:150618800-150660400	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr1:150621000-150640400	Weak transcription	Small Intestine	intestine
6	chr1:150621000-150660800	Weak transcription	Colon Smooth Muscle	Colon
7	chr1:150621200-150660400	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr1:150621200-150664800	Weak transcription	Fetal Brain Female	brain
9	chr1:150621200-150665000	Weak transcription	Fetal Kidney	kidney
10	chr1:150621200-150669400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr1:150621400-150639400	Weak transcription	HepG2	liver
12	chr1:150621400-150644200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr1:150621400-150660400	Weak transcription	HSMM	muscle
14	chr1:150621600-150639600	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr1:150621800-150661200	Weak transcription	NHDF-Ad	bronchial
16	chr1:150621800-150668600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr1:150622000-150661400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr1:150622000-150668600	Weak transcription	HSMMtube	muscle
19	chr1:150622000-150669400	Weak transcription	Esophagus	oesophagus
20	chr1:150622200-150660600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr1:150623200-150640800	Weak transcription	Gastric	stomach
22	chr1:150623200-150642200	Weak transcription	Right Ventricle	heart
23	chr1:150623200-150648400	Weak transcription	Lung	lung
24	chr1:150623200-150668600	Weak transcription	Brain Angular Gyrus	brain
25	chr1:150623400-150663000	Weak transcription	Rectal Smooth Muscle	rectum
26	chr1:150627000-150640600	Weak transcription	Stomach Mucosa	stomach
27	chr1:150627400-150638800	Weak transcription	Pancreas	Pancrea
28	chr1:150630000-150664800	Weak transcription	Thymus	Thymus
29	chr1:150630800-150638000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr1:150630800-150656200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr1:150631400-150645000	Weak transcription	Primary hematopoietic stem cells	blood
32	chr1:150631600-150640800	Strong transcription	Fetal Intestine Small	intestine
33	chr1:150631800-150665400	Weak transcription	Primary neutrophils fromperipheralblood	blood
34	chr1:150632400-150669000	Weak transcription	Aorta	Aorta
35	chr1:150632600-150647000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr1:150632600-150654200	Weak transcription	Ovary	ovary
37	chr1:150632600-150658400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr1:150632600-150665000	Weak transcription	Colonic Mucosa	Colon
39	chr1:150632600-150668200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr1:150633000-150668600	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr1:150633200-150639800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr1:150633200-150656400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr1:150633200-150656400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr1:150633200-150669200	Weak transcription	Left Ventricle	heart
45	chr1:150633400-150639400	Weak transcription	A549	lung
46	chr1:150633400-150656400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
47	chr1:150633400-150660600	Weak transcription	Fetal Lung	lung
48	chr1:150633400-150665000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr1:150634200-150653600	Weak transcription	Osteobl	bone
50	chr1:150634200-150654400	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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