Variant report

Variant	rs6664630
Chromosome Location	chr1:211765485-211765486
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:211765108..211767517-chr1:211786699..211788894,2	K562	blood:
2	chr1:211763176..211765854-chr1:211779475..211781006,2	K562	blood:
3	chr1:211750788..211752377-chr1:211763497..211765558,2	MCF-7	breast:
4	chr1:211762463..211765854-chr1:211778944..211781006,3	K562	blood:
5	chr1:211764016..211768731-chr1:211768736..211774092,7	K562	blood:
6	chr1:211750668..211752258-chr1:211765134..211767643,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000170385	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs1147663	0.81[EUR][1000 genomes]
rs11811354	1.00[JPT][hapmap]
rs620336	0.81[EUR][1000 genomes]
rs621213	0.81[EUR][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	nsv832514	chr1:211630247-211794963	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	esv1796467	chr1:211726975-211769893	Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	esv1840920	chr1:211726975-211769893	Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:211757400-211775200	Weak transcription	Fetal Intestine Small	intestine
2	chr1:211762200-211766600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr1:211762800-211766000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr1:211763800-211765600	Weak transcription	Fetal Muscle Trunk	muscle
5	chr1:211763800-211765800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr1:211764600-211765600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr1:211764600-211770600	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr1:211764800-211768400	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr1:211764800-211768600	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr1:211765000-211766200	Enhancers	HMEC	breast
11	chr1:211765200-211765600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr1:211765200-211765600	Enhancers	Hela-S3	cervix
13	chr1:211765200-211766000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr1:211765200-211766000	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr1:211765200-211766000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr1:211765200-211766000	Enhancers	Fetal Muscle Leg	muscle
17	chr1:211765200-211766200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr1:211765200-211766200	Enhancers	K562	blood
19	chr1:211765400-211765600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr1:211765400-211765600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
21	chr1:211765400-211765600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr1:211765400-211765600	Enhancers	Adipose Nuclei	Adipose
23	chr1:211765400-211765800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr1:211765400-211765800	Enhancers	Small Intestine	intestine
25	chr1:211765400-211765800	Flanking Active TSS	A549	lung
26	chr1:211765400-211765800	Active TSS	NH-A	brain
27	chr1:211765400-211766000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr1:211765400-211766000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr1:211765400-211766000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr1:211765400-211766000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr1:211765400-211766000	Enhancers	Placenta	Placenta
32	chr1:211765400-211766000	Enhancers	Ovary	ovary
33	chr1:211765400-211766000	Flanking Active TSS	HSMM	muscle
34	chr1:211765400-211766000	Flanking Active TSS	HSMMtube	muscle
35	chr1:211765400-211766000	Flanking Active TSS	NHDF-Ad	bronchial
36	chr1:211765400-211766000	Enhancers	NHEK	skin
37	chr1:211765400-211766000	Flanking Active TSS	NHLF	lung
38	chr1:211765400-211766200	Enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr1:211765400-211766200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr1:211765400-211766200	Flanking Active TSS	Osteobl	bone
41	chr1:211765400-211766400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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