Variant report

Variant	rs3770946
Chromosome Location	chr2:36609926-36609927
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10186135	0.82[CEU][hapmap];1.00[JPT][hapmap]
rs10203010	1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap]
rs11124514	0.85[CEU][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap]
rs11124515	0.85[CEU][hapmap];1.00[JPT][hapmap]
rs11124516	0.82[CEU][hapmap];1.00[CHD][hapmap];0.80[GIH][hapmap];1.00[JPT][hapmap]
rs1159133	0.92[CEU][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap]
rs12465282	0.92[CEU][hapmap];1.00[JPT][hapmap]
rs12465297	0.92[CEU][hapmap];1.00[JPT][hapmap]
rs12477836	0.90[GIH][hapmap];1.00[JPT][hapmap]
rs13394052	0.85[CEU][hapmap];1.00[JPT][hapmap]
rs13407488	0.85[CEU][hapmap];1.00[JPT][hapmap]
rs2689711	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs3755214	0.82[CEU][hapmap];1.00[CHD][hapmap];0.80[GIH][hapmap];1.00[JPT][hapmap]
rs3770932	0.82[CEU][hapmap];1.00[JPT][hapmap]
rs3770936	0.84[CEU][hapmap];1.00[JPT][hapmap]
rs3770947	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[TSI][hapmap];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3770955	0.84[CEU][hapmap]
rs4233914	0.84[CEU][hapmap];1.00[JPT][hapmap]
rs4670554	0.85[CEU][hapmap];1.00[JPT][hapmap]
rs6711707	0.92[CEU][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap]
rs711255	1.00[JPT][hapmap]
rs7589917	0.92[CEU][hapmap];1.00[JPT][hapmap]
rs848508	1.00[JPT][hapmap]
rs848513	1.00[JPT][hapmap]
rs848514	1.00[JPT][hapmap]
rs888076	0.96[CEU][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.91[TSI][hapmap];0.84[EUR][1000 genomes];0.89[ASN][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	nsv833803	chr2:36589065-36745779	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3770946	LTBP1	cis	parietal	SCAN

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:36586200-36626600	Weak transcription	Primary B cells from cord blood	blood
2	chr2:36600400-36612000	Genic enhancers	Osteobl	bone
3	chr2:36603800-36612600	Weak transcription	Fetal Brain Female	brain
4	chr2:36604000-36614400	Genic enhancers	HUVEC	blood vessel
5	chr2:36604000-36617000	Weak transcription	Primary hematopoietic stem cells	blood
6	chr2:36604400-36611200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr2:36604400-36614000	Weak transcription	HSMMtube	muscle
8	chr2:36604400-36615000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr2:36604400-36615400	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr2:36604400-36615600	Weak transcription	Fetal Muscle Leg	muscle
11	chr2:36604400-36616400	Weak transcription	Gastric	stomach
12	chr2:36604400-36620600	Weak transcription	Fetal Brain Male	brain
13	chr2:36604400-36640400	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr2:36604400-36640600	Weak transcription	Brain Cingulate Gyrus	brain
15	chr2:36604600-36614800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr2:36604600-36617600	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr2:36604600-36620800	Weak transcription	Brain Hippocampus Middle	brain
18	chr2:36604800-36614400	Weak transcription	Rectal Smooth Muscle	rectum
19	chr2:36605400-36610000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr2:36606600-36610000	Enhancers	H1 Cell Line	embryonic stem cell
21	chr2:36607000-36611600	Genic enhancers	NHLF	lung
22	chr2:36607200-36610000	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr2:36607200-36610000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr2:36607200-36610000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr2:36607200-36610000	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr2:36607600-36610200	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr2:36607600-36620800	Weak transcription	Pancreas	Pancrea
28	chr2:36607800-36615800	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr2:36608000-36610000	Enhancers	Psoas Muscle	Psoas
30	chr2:36608000-36610800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr2:36608000-36614000	Weak transcription	Hela-S3	cervix
32	chr2:36608000-36614600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr2:36608200-36610000	Enhancers	Left Ventricle	heart
34	chr2:36608200-36610000	Enhancers	Right Ventricle	heart
35	chr2:36608200-36612200	Weak transcription	Colon Smooth Muscle	Colon
36	chr2:36608400-36611200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr2:36608600-36610600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr2:36608600-36611200	Weak transcription	Esophagus	oesophagus
39	chr2:36608600-36611600	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr2:36608600-36612600	Weak transcription	Right Atrium	heart
41	chr2:36608600-36612600	Weak transcription	Small Intestine	intestine
42	chr2:36608600-36614000	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr2:36608600-36614000	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr2:36608600-36616200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr2:36608600-36616200	Weak transcription	Fetal Stomach	stomach
46	chr2:36608800-36611000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr2:36608800-36611200	Weak transcription	NHEK	skin
48	chr2:36608800-36611400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr2:36608800-36613000	Strong transcription	Muscle Satellite Cultured Cells	--
50	chr2:36608800-36613400	Strong transcription	NH-A	brain

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