Variant report

Variant	rs41488747
Chromosome Location	chr1:70655230-70655231
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:70652911..70655573-chr1:70665415..70667122,3	K562	blood:

Extended variants
information (count: 26 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10489927	1.00[CHB][hapmap];1.00[CHD][hapmap];0.84[GIH][hapmap];1.00[TSI][hapmap]
rs10489928	1.00[ASW][hapmap];0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.80[MKK][hapmap];1.00[TSI][hapmap]
rs12562802	0.89[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];1.00[TSI][hapmap]
rs12565362	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap]
rs12566666	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.84[GIH][hapmap];0.87[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs17131235	1.00[CEU][hapmap];0.88[CHB][hapmap];0.97[CHD][hapmap];0.84[GIH][hapmap];0.81[JPT][hapmap];1.00[TSI][hapmap]
rs17131248	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.88[YRI][hapmap]
rs2034756	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.84[GIH][hapmap];0.86[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs2210545	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];0.88[YRI][hapmap]
rs2274913	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];0.88[YRI][hapmap]
rs2297484	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap]
rs2297486	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];0.88[YRI][hapmap]
rs35262515	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.84[GIH][hapmap];0.87[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs3753817	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.84[GIH][hapmap];0.87[JPT][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.88[YRI][hapmap]
rs3767206	1.00[ASW][hapmap];0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs3767207	1.00[ASW][hapmap];0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap]
rs3767208	0.89[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap]
rs3767214	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.84[GIH][hapmap];0.87[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs3920731	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];0.88[YRI][hapmap]
rs632517	1.00[MEX][hapmap]
rs668525	1.00[MEX][hapmap]
rs6702168	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];0.88[YRI][hapmap]
rs7533067	0.82[CHD][hapmap]

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	esv1798518	chr1:70604106-70723347	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	esv1797140	chr1:70604106-70724622	Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv870841	chr1:70612416-70696554	Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:70606800-70661800	Weak transcription	Brain Hippocampus Middle	brain
2	chr1:70607000-70670200	Weak transcription	Psoas Muscle	Psoas
3	chr1:70607000-70670400	Weak transcription	Small Intestine	intestine
4	chr1:70608800-70655800	Weak transcription	Esophagus	oesophagus
5	chr1:70609600-70661200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr1:70610000-70656600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr1:70610000-70667800	Weak transcription	HepG2	liver
8	chr1:70610600-70669600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr1:70611000-70666600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr1:70611200-70670400	Weak transcription	Pancreas	Pancrea
11	chr1:70612400-70669000	Weak transcription	HUVEC	blood vessel
12	chr1:70613400-70658400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr1:70613600-70657000	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr1:70613600-70667800	Weak transcription	Brain Angular Gyrus	brain
15	chr1:70613800-70658000	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr1:70614400-70657800	Weak transcription	Fetal Kidney	kidney
17	chr1:70615000-70670000	Weak transcription	NH-A	brain
18	chr1:70615000-70670400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr1:70623000-70656600	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr1:70623000-70661600	Weak transcription	K562	blood
21	chr1:70629800-70669600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr1:70632600-70656800	Weak transcription	NHLF	lung
23	chr1:70634000-70670400	Weak transcription	Lung	lung
24	chr1:70634200-70658000	Weak transcription	Brain Germinal Matrix	brain
25	chr1:70634400-70670200	Weak transcription	Fetal Stomach	stomach
26	chr1:70634600-70656800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr1:70635000-70670600	Weak transcription	Aorta	Aorta
28	chr1:70635400-70656200	Weak transcription	Fetal Heart	heart
29	chr1:70638600-70661400	Weak transcription	Primary T cells fromperipheralblood	blood
30	chr1:70639800-70670200	Weak transcription	Placenta	Placenta
31	chr1:70643600-70656600	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr1:70643600-70668600	Weak transcription	Fetal Brain Female	brain
33	chr1:70644000-70656400	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr1:70644000-70668600	Weak transcription	Ovary	ovary
35	chr1:70644200-70656600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr1:70644400-70669600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr1:70644800-70669800	Weak transcription	HSMM	muscle
38	chr1:70646200-70669200	Weak transcription	Fetal Intestine Small	intestine
39	chr1:70649600-70658200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
40	chr1:70649600-70668600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr1:70649600-70668600	Weak transcription	Left Ventricle	heart
42	chr1:70649600-70670400	Weak transcription	Fetal Muscle Leg	muscle
43	chr1:70649800-70670200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr1:70650000-70656400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr1:70650000-70670400	Weak transcription	Fetal Muscle Trunk	muscle
46	chr1:70650200-70669800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr1:70650200-70670400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr1:70650400-70668200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr1:70650600-70669400	Weak transcription	Adipose Nuclei	Adipose
50	chr1:70650600-70669800	Weak transcription	Fetal Intestine Large	intestine

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