Variant report

Variant	rs875231
Chromosome Location	chr2:11646719-11646720
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10169987	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10174895	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10192123	1.00[ASN][1000 genomes]
rs10201673	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10205078	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10929750	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11897533	1.00[ASN][1000 genomes]
rs12165170	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13383410	0.86[ASN][1000 genomes]
rs13388093	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13395155	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs13407457	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs13418262	0.86[ASN][1000 genomes]
rs13424905	0.86[ASN][1000 genomes]
rs13430148	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs1595018	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16857565	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs16857586	1.00[CEU][hapmap];1.00[TSI][hapmap]
rs2002730	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2043542	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2082829	1.00[ASN][1000 genomes]
rs2082830	1.00[ASN][1000 genomes]
rs4668729	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4669736	1.00[EUR][1000 genomes]
rs4669737	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4669739	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4669740	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4669741	0.87[ASN][1000 genomes]
rs58651473	1.00[EUR][1000 genomes]
rs61362255	0.86[ASN][1000 genomes]
rs6432202	1.00[CHB][hapmap]
rs6432209	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6713415	0.81[AFR][1000 genomes]
rs6719003	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6719009	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6728365	1.00[CEU][hapmap];1.00[TSI][hapmap]
rs6739168	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6741736	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6756327	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73187472	0.86[ASN][1000 genomes]
rs7566661	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs7597108	0.86[ASN][1000 genomes]
rs7597865	1.00[EUR][1000 genomes]
rs877164	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv1010506	chr2:11430965-12057286	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
2	nsv535585	chr2:11430965-12057286	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11639600-11647600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr2:11639600-11648200	Weak transcription	Stomach Mucosa	stomach
3	chr2:11639600-11655000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr2:11640000-11648000	Weak transcription	Fetal Heart	heart
5	chr2:11641400-11647800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr2:11641400-11651600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr2:11641400-11653200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr2:11641600-11653800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr2:11641800-11647800	Weak transcription	Duodenum Mucosa	Duodenum
10	chr2:11643400-11651200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr2:11643800-11648200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr2:11644000-11651800	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr2:11644800-11647000	Enhancers	GM12878-XiMat	blood
14	chr2:11644800-11648400	Enhancers	Ovary	ovary
15	chr2:11645200-11651800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr2:11645400-11646800	Enhancers	Gastric	stomach
17	chr2:11645400-11647000	Enhancers	Fetal Stomach	stomach
18	chr2:11645800-11646800	Enhancers	Fetal Intestine Large	intestine
19	chr2:11645800-11647200	Flanking Active TSS	HepG2	liver
20	chr2:11646000-11646800	Enhancers	Fetal Intestine Small	intestine
21	chr2:11646000-11647000	Enhancers	Pancreas	Pancrea
22	chr2:11646200-11647000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr2:11646200-11647000	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr2:11646200-11647000	Enhancers	Left Ventricle	heart
25	chr2:11646200-11647000	Enhancers	Psoas Muscle	Psoas
26	chr2:11646200-11647000	Enhancers	Skeletal Muscle Female	skeletal muscle
27	chr2:11646200-11647200	Enhancers	Brain Angular Gyrus	brain
28	chr2:11646200-11648400	Enhancers	Skeletal Muscle Male	skeletal muscle
29	chr2:11646200-11648600	Enhancers	Fetal Muscle Trunk	muscle
30	chr2:11646200-11648800	Enhancers	Brain Cingulate Gyrus	brain
31	chr2:11646200-11648800	Enhancers	Fetal Muscle Leg	muscle
32	chr2:11646200-11649000	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr2:11646200-11649000	Enhancers	Brain Inferior Temporal Lobe	brain
34	chr2:11646400-11647000	Enhancers	Right Atrium	heart
35	chr2:11646400-11647000	Enhancers	Right Ventricle	heart
36	chr2:11646400-11648200	Enhancers	Brain Hippocampus Middle	brain
37	chr2:11646400-11648800	Enhancers	Brain Anterior Caudate	brain
38	chr2:11646400-11648800	Enhancers	Brain Substantia Nigra	brain
39	chr2:11646400-11651600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr2:11646400-11653800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr2:11646600-11646800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr2:11646600-11647800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr2:11646600-11647800	Weak transcription	Fetal Lung	lung
44	chr2:11646600-11648200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr2:11646600-11648800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
46	chr2:11646600-11649000	Enhancers	Liver	Liver

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