Variant report

Variant	rs3820632
Chromosome Location	chr1:226790951-226790952
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:226789700..226791399-chr1:226794121..226795784,2	K562	blood:
2	chr1:226789700..226792954-chr1:226793236..226797673,6	K562	blood:
3	chr1:226789996..226792506-chr1:227056884..227059360,2	MCF-7	breast:
4	chr1:226770710..226772918-chr1:226790123..226792228,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000143801	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10799362	0.82[CHB][hapmap];0.87[CHD][hapmap]
rs10916011	0.82[ASN][1000 genomes]
rs10916012	0.84[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs12086425	0.91[ASN][1000 genomes]
rs12086463	0.94[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];0.90[JPT][hapmap];0.93[ASN][1000 genomes]
rs3738717	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6663978	0.82[CHB][hapmap];0.87[CHD][hapmap]
rs6664080	0.82[CHB][hapmap];0.87[CHD][hapmap]
rs6667555	0.82[CHB][hapmap];0.87[CHD][hapmap]
rs6697883	0.82[CHB][hapmap];0.84[CHD][hapmap]
rs7512486	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv470779	chr1:226778432-226833304	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv873234	chr1:226779449-226859676	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	esv3437833	chr1:226780025-226810577	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv522446	chr1:226785530-226923938	Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226789200-226792400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr1:226789200-226792400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr1:226789400-226791000	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr1:226789400-226791600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr1:226789600-226791600	Enhancers	Small Intestine	intestine
6	chr1:226789600-226792000	Enhancers	HMEC	breast
7	chr1:226789600-226793000	Enhancers	Brain Germinal Matrix	brain
8	chr1:226789600-226793000	Enhancers	Fetal Stomach	stomach
9	chr1:226789600-226795200	Enhancers	Placenta Amnion	Placenta Amnion
10	chr1:226789800-226791800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr1:226789800-226792800	Enhancers	Fetal Lung	lung
12	chr1:226789800-226793400	Enhancers	HSMMtube	muscle
13	chr1:226789800-226795600	Enhancers	Placenta	Placenta
14	chr1:226790000-226791600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr1:226790000-226792800	Enhancers	Rectal Smooth Muscle	rectum
16	chr1:226790000-226793000	Enhancers	Right Ventricle	heart
17	chr1:226790000-226793200	Enhancers	Left Ventricle	heart
18	chr1:226790000-226793600	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr1:226790000-226794800	Enhancers	Fetal Heart	heart
20	chr1:226790000-226794800	Enhancers	Ovary	ovary
21	chr1:226790200-226791200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr1:226790200-226791200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
23	chr1:226790200-226791400	Flanking Active TSS	NHLF	lung
24	chr1:226790200-226791400	Flanking Active TSS	Osteobl	bone
25	chr1:226790200-226791600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr1:226790200-226791600	Bivalent Enhancer	HepG2	liver
27	chr1:226790200-226792200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr1:226790200-226792800	Enhancers	Colon Smooth Muscle	Colon
29	chr1:226790200-226793600	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr1:226790200-226795200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr1:226790400-226791000	Enhancers	Skeletal Muscle Male	skeletal muscle
32	chr1:226790400-226791200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr1:226790400-226791200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr1:226790400-226791400	Weak transcription	Right Atrium	heart
35	chr1:226790400-226791400	Weak transcription	Spleen	Spleen
36	chr1:226790400-226791600	Enhancers	Liver	Liver
37	chr1:226790400-226791600	Enhancers	Fetal Kidney	kidney
38	chr1:226790400-226791800	Weak transcription	Fetal Thymus	thymus
39	chr1:226790400-226792400	Enhancers	Fetal Brain Female	brain
40	chr1:226790400-226794800	Enhancers	Fetal Muscle Trunk	muscle
41	chr1:226790400-226795400	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr1:226790600-226791000	Weak transcription	Colonic Mucosa	Colon
43	chr1:226790600-226791000	Weak transcription	Esophagus	oesophagus
44	chr1:226790600-226791000	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr1:226790600-226791200	Flanking Active TSS	Brain Cingulate Gyrus	brain
46	chr1:226790600-226791200	Flanking Active TSS	Brain Hippocampus Middle	brain
47	chr1:226790600-226791200	Flanking Active TSS	NHEK	skin
48	chr1:226790600-226791400	Active TSS	Stomach Smooth Muscle	stomach
49	chr1:226790600-226791400	Flanking Active TSS	NHDF-Ad	bronchial
50	chr1:226790600-226791600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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