Variant report

Variant	rs6434322
Chromosome Location	chr2:189949189-189949190
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10165260	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10176287	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10194618	1.00[CEU][hapmap];0.87[JPT][hapmap];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3923384	1.00[CEU][hapmap];0.87[JPT][hapmap];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4128538	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4666770	1.00[CEU][hapmap];0.92[GIH][hapmap];0.87[JPT][hapmap];0.94[MEX][hapmap];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4667268	0.85[JPT][hapmap]
rs6717231	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6750027	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7420715	1.00[CEU][hapmap];0.92[GIH][hapmap];0.87[JPT][hapmap];0.94[MEX][hapmap];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7422106	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7422861	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7423494	0.86[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs7424947	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7558610	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7592230	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7592439	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533029	chr2:189812229-190554339	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv3074	chr2:189931263-189976124	Genic enhancers Strong transcription ZNF genes & repeats Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:189895600-189965200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr2:189896200-189962400	Weak transcription	Left Ventricle	heart
3	chr2:189900800-189964400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr2:189904400-189951000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr2:189912400-189961600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr2:189915000-189950600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr2:189915400-189951000	Strong transcription	Osteobl	bone
8	chr2:189922800-189980800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr2:189929600-189951400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr2:189933000-189960400	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr2:189933000-189980200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr2:189933800-189957800	Weak transcription	Fetal Intestine Small	intestine
13	chr2:189936600-189969200	Weak transcription	Liver	Liver
14	chr2:189938200-189951200	Strong transcription	NH-A	brain
15	chr2:189938400-189951800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr2:189941200-189975000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr2:189942400-189954200	Weak transcription	Ovary	ovary
18	chr2:189942800-189961800	Weak transcription	Aorta	Aorta
19	chr2:189944000-189953600	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr2:189944800-189950400	Weak transcription	HUVEC	blood vessel
21	chr2:189945600-189952800	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr2:189945800-189949800	Weak transcription	Fetal Muscle Trunk	muscle
23	chr2:189947200-189951000	Genic enhancers	Muscle Satellite Cultured Cells	--
24	chr2:189947200-189961200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr2:189947400-189949400	Genic enhancers	HSMM	muscle
26	chr2:189947400-189950600	Strong transcription	Stomach Smooth Muscle	stomach
27	chr2:189947400-189951200	Genic enhancers	NHLF	lung
28	chr2:189947400-189958000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr2:189947600-189951000	Strong transcription	Adipose Nuclei	Adipose
30	chr2:189947600-189961800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr2:189947600-189980800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr2:189947800-189951400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr2:189947800-189957000	Weak transcription	Rectal Smooth Muscle	rectum
34	chr2:189948200-189949400	Strong transcription	A549	lung
35	chr2:189948200-189949600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr2:189948200-189950200	Enhancers	Fetal Stomach	stomach
37	chr2:189948200-189950400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr2:189948200-189950400	Weak transcription	Fetal Intestine Large	intestine
39	chr2:189948200-189950600	Weak transcription	Fetal Kidney	kidney
40	chr2:189948200-189950800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr2:189948200-189957800	Weak transcription	Psoas Muscle	Psoas
42	chr2:189948200-189958000	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr2:189948200-189959200	Weak transcription	Fetal Brain Male	brain
44	chr2:189948200-189980600	Weak transcription	Placenta	Placenta
45	chr2:189948600-189950400	Strong transcription	NHDF-Ad	bronchial
46	chr2:189948600-189950800	Strong transcription	HSMMtube	muscle
47	chr2:189948600-189974800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
48	chr2:189948800-189949800	Weak transcription	Fetal Muscle Leg	muscle
49	chr2:189948800-189952800	Weak transcription	Colon Smooth Muscle	Colon
50	chr2:189949000-189949200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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