Variant report

Variant	rs595606
Chromosome Location	chr1:210517471-210517472
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:210517420..210519342-chr1:210546559..210548780,2	K562	blood:
2	chr1:210515068..210517585-chr1:210541505..210543013,2	K562	blood:
3	chr1:210515744..210518979-chr1:210543495..210546980,6	MCF-7	breast:
4	chr1:210499877..210502371-chr1:210516714..210518538,2	K562	blood:
5	chr1:210509334..210511204-chr1:210515301..210517705,2	K562	blood:
6	chr1:210517249..210518920-chr1:210546922..210548780,2	K562	blood:

Variant related genes	Relation type
ENSG00000200972	Chromatin interaction
ENSG00000054392	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11580431	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12407138	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs610446	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6671496	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6696657	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7515805	0.85[EUR][1000 genomes]
rs946125	0.87[EUR][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	nsv8769	chr1:210403509-210564588	Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	126 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:210503600-210546800	Weak transcription	Fetal Intestine Small	intestine
2	chr1:210513000-210540400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr1:210513200-210517800	Enhancers	Primary T cells fromperipheralblood	blood
4	chr1:210513600-210517600	Enhancers	Primary T helper naive cells from peripheral blood	blood
5	chr1:210513600-210517800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr1:210513600-210517800	Enhancers	Primary T helper cells fromperipheralblood	blood
7	chr1:210516400-210517600	Flanking Active TSS	GM12878-XiMat	blood
8	chr1:210516400-210517800	Flanking Active TSS	Dnd41	blood
9	chr1:210516800-210534400	Weak transcription	Fetal Lung	lung
10	chr1:210517000-210517600	Enhancers	Primary T helper cells PMA-I stimulated	--
11	chr1:210517000-210520000	Weak transcription	HSMMtube	muscle
12	chr1:210517000-210520000	Weak transcription	NH-A	brain
13	chr1:210517000-210531400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr1:210517000-210534400	Weak transcription	HSMM	muscle
15	chr1:210517200-210517600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
16	chr1:210517200-210517600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr1:210517200-210517600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
18	chr1:210517200-210517600	Enhancers	Right Atrium	heart
19	chr1:210517200-210518000	Weak transcription	Esophagus	oesophagus
20	chr1:210517200-210518200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
21	chr1:210517200-210518200	Weak transcription	NHEK	skin
22	chr1:210517200-210518600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr1:210517200-210518600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr1:210517200-210518600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr1:210517200-210518600	Enhancers	HMEC	breast
26	chr1:210517200-210518600	Enhancers	NHDF-Ad	bronchial
27	chr1:210517200-210519000	Weak transcription	Fetal Heart	heart
28	chr1:210517200-210520200	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr1:210517200-210520600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr1:210517200-210524400	Weak transcription	Lung	lung
31	chr1:210517200-210524600	Weak transcription	Ovary	ovary
32	chr1:210517200-210525400	Weak transcription	Thymus	Thymus
33	chr1:210517200-210534400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr1:210517200-210534400	Weak transcription	Brain Anterior Caudate	brain
35	chr1:210517200-210534600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr1:210517200-210535800	Weak transcription	Right Ventricle	heart
37	chr1:210517200-210536000	Weak transcription	Fetal Stomach	stomach
38	chr1:210517200-210536000	Weak transcription	Left Ventricle	heart
39	chr1:210517400-210517600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr1:210517400-210517600	Flanking Active TSS	Colon Smooth Muscle	Colon
41	chr1:210517400-210517600	Enhancers	Duodenum Smooth Muscle	Duodenum
42	chr1:210517400-210517600	Enhancers	Rectal Mucosa Donor 31	rectum
43	chr1:210517400-210517600	Enhancers	Rectal Smooth Muscle	rectum
44	chr1:210517400-210517800	Enhancers	Breast Myoepithelial Primary Cells	Breast
45	chr1:210517400-210517800	Enhancers	Primary B cells from cord blood	blood
46	chr1:210517400-210518000	Enhancers	Primary B cells from peripheral blood	blood
47	chr1:210517400-210518200	Enhancers	Osteobl	bone
48	chr1:210517400-210518400	Weak transcription	Gastric	stomach
49	chr1:210517400-210520000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr1:210517400-210520000	Weak transcription	Aorta	Aorta

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