Variant report

Variant	rs73085460
Chromosome Location	chr1:215785052-215785053
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	chr1:215782995..215785148-chr1:215799884..215802393,2	K562	blood:

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs59214288	1.00[AFR][1000 genomes]
rs59654382	1.00[AFR][1000 genomes]
rs60427287	0.86[AFR][1000 genomes]
rs6695032	0.87[AFR][1000 genomes]
rs73083424	1.00[AFR][1000 genomes]
rs73083434	1.00[AFR][1000 genomes]
rs73083440	0.87[AFR][1000 genomes]
rs73083442	0.87[AFR][1000 genomes]
rs73083444	0.87[AFR][1000 genomes]
rs73083463	0.87[AFR][1000 genomes]
rs73083482	0.87[AFR][1000 genomes]
rs73083485	0.87[AFR][1000 genomes]
rs73083488	0.87[AFR][1000 genomes]
rs73085420	1.00[AFR][1000 genomes]
rs73085431	0.86[AFR][1000 genomes]
rs73085432	0.86[AFR][1000 genomes]
rs73085444	1.00[AFR][1000 genomes]
rs73085451	1.00[AFR][1000 genomes]
rs73085461	0.86[AFR][1000 genomes]
rs73087422	1.00[AFR][1000 genomes]
rs73087434	0.86[AFR][1000 genomes]
rs73087436	0.86[AFR][1000 genomes]
rs73087456	0.86[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1796390	chr1:215561548-215799074	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv430324	chr1:215649163-216082605	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:215741800-215786200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:215741800-215809800	Weak transcription	Colonic Mucosa	Colon
3	chr1:215742000-215786400	Weak transcription	Thymus	Thymus
4	chr1:215742200-215786400	Weak transcription	Primary T cells from cord blood	blood
5	chr1:215743200-215785800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr1:215750000-215786200	Weak transcription	Small Intestine	intestine
7	chr1:215750000-215805000	Weak transcription	Lung	lung
8	chr1:215750200-215785800	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr1:215750200-215786200	Weak transcription	Pancreas	Pancrea
10	chr1:215750200-215790400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr1:215750200-215795400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr1:215750200-215796000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr1:215750200-215804400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr1:215750200-215809200	Weak transcription	Gastric	stomach
15	chr1:215753200-215792200	Weak transcription	Aorta	Aorta
16	chr1:215755800-215804800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr1:215760400-215786200	Weak transcription	Stomach Smooth Muscle	stomach
18	chr1:215765200-215790400	Weak transcription	Esophagus	oesophagus
19	chr1:215766400-215786200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr1:215768000-215791800	Weak transcription	Fetal Brain Male	brain
21	chr1:215768400-215790600	Weak transcription	Right Ventricle	heart
22	chr1:215771200-215786200	Weak transcription	HSMMtube	muscle
23	chr1:215773000-215790400	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr1:215773200-215785800	Weak transcription	Primary B cells from cord blood	blood
25	chr1:215773400-215786200	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr1:215773600-215785400	Weak transcription	Brain Anterior Caudate	brain
27	chr1:215773600-215786200	Weak transcription	Fetal Intestine Small	intestine
28	chr1:215773600-215792400	Weak transcription	Brain Angular Gyrus	brain
29	chr1:215773800-215798600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr1:215774000-215785400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr1:215774000-215795200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr1:215775000-215786200	Weak transcription	Fetal Stomach	stomach
33	chr1:215777200-215792200	Weak transcription	Rectal Smooth Muscle	rectum
34	chr1:215778800-215785200	Weak transcription	Brain Hippocampus Middle	brain
35	chr1:215778800-215791600	Weak transcription	Brain Substantia Nigra	brain
36	chr1:215779200-215785800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr1:215779200-215786400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr1:215779400-215792200	Weak transcription	Ovary	ovary
39	chr1:215779400-215792400	Weak transcription	HMEC	breast
40	chr1:215779400-215793400	Weak transcription	NHLF	lung
41	chr1:215779400-215799200	Weak transcription	Psoas Muscle	Psoas
42	chr1:215780000-215794000	Weak transcription	Primary B cells from peripheral blood	blood
43	chr1:215780800-215787200	Strong transcription	NHDF-Ad	bronchial
44	chr1:215780800-215788400	Strong transcription	Monocytes-CD14+_RO01746	blood
45	chr1:215780800-215789400	Strong transcription	HUES64 Cell Line	embryonic stem cell
46	chr1:215781000-215786600	Strong transcription	HUES48 Cell Line	embryonic stem cell
47	chr1:215781000-215787200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr1:215781000-215787400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
49	chr1:215781000-215787400	Strong transcription	HSMM	muscle
50	chr1:215781000-215787800	Strong transcription	HUES6 Cell Line	embryonic stem cell

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