Variant report

Variant	rs2134688
Chromosome Location	chr1:150816886-150816887
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10788795	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10888396	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11204700	0.82[EUR][1000 genomes]
rs11204714	0.88[EUR][1000 genomes]
rs11204715	0.88[EUR][1000 genomes]
rs11204727	0.92[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.94[TSI][hapmap];0.91[EUR][1000 genomes]
rs11576175	0.92[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.94[TSI][hapmap];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12038403	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12728254	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16832604	0.84[CEU][hapmap];0.86[CHB][hapmap];0.90[JPT][hapmap]
rs16840074	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs1811698	0.85[ASN][1000 genomes]
rs1932864	0.82[EUR][1000 genomes]
rs267736	1.00[CEU][hapmap];0.90[CHD][hapmap];0.81[JPT][hapmap];1.00[TSI][hapmap]
rs3738483	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3754207	0.92[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.94[TSI][hapmap]
rs3754210	1.00[CEU][hapmap];0.83[CHD][hapmap];0.81[JPT][hapmap];1.00[TSI][hapmap]
rs3768017	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3820541	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3820543	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4379678	0.92[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs533928	0.88[EUR][1000 genomes]
rs61817598	0.85[EUR][1000 genomes]
rs61817599	0.82[EUR][1000 genomes]
rs61817600	0.91[EUR][1000 genomes]
rs61817649	0.88[EUR][1000 genomes]
rs6661100	0.91[EUR][1000 genomes]
rs6671703	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6679701	0.92[CEU][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.91[EUR][1000 genomes]
rs6684611	0.81[EUR][1000 genomes]
rs6688248	0.88[EUR][1000 genomes]
rs6692277	0.91[EUR][1000 genomes]
rs6696167	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72704624	0.91[EUR][1000 genomes]
rs7517566	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7520511	0.80[EUR][1000 genomes]
rs7520516	0.80[EUR][1000 genomes]
rs7529204	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7535848	0.88[EUR][1000 genomes]
rs7535975	0.88[EUR][1000 genomes]
rs771204	0.83[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2829859	chr1:150608894-150937329	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv872418	chr1:150683512-150860471	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv437169	chr1:150738197-150816886	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv1001897	chr1:150743271-151241600	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
5	nsv535158	chr1:150743271-151241600	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
6	nsv872420	chr1:150786038-150847647	Strong transcription Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	nsv1010875	chr1:150796816-150845827	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
8	esv1793983	chr1:150804748-150825924	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:150793200-150823200	Strong transcription	Placenta	Placenta
2	chr1:150799800-150817800	Strong transcription	Primary B cells from cord blood	blood
3	chr1:150801800-150818600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:150801800-150824600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr1:150805800-150824600	Weak transcription	HMEC	breast
6	chr1:150807200-150820800	Weak transcription	Spleen	Spleen
7	chr1:150807400-150824600	Weak transcription	A549	lung
8	chr1:150807400-150847000	Weak transcription	Colonic Mucosa	Colon
9	chr1:150808000-150821600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr1:150808800-150847000	Weak transcription	Psoas Muscle	Psoas
11	chr1:150809000-150819200	Weak transcription	K562	blood
12	chr1:150809000-150823000	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr1:150809000-150824400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr1:150809000-150824600	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr1:150809200-150820600	Weak transcription	Brain Germinal Matrix	brain
16	chr1:150809200-150824600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr1:150809200-150846800	Weak transcription	Brain Cingulate Gyrus	brain
18	chr1:150809400-150821000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr1:150809400-150821000	Weak transcription	Thymus	Thymus
20	chr1:150809400-150823200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr1:150809600-150820400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr1:150809600-150846000	Weak transcription	Pancreas	Pancrea
23	chr1:150810000-150824800	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr1:150810200-150824600	Weak transcription	NHLF	lung
25	chr1:150810400-150846600	Weak transcription	Fetal Heart	heart
26	chr1:150812000-150824400	Weak transcription	Fetal Brain Male	brain
27	chr1:150812000-150831200	Weak transcription	Lung	lung
28	chr1:150812000-150847000	Weak transcription	Gastric	stomach
29	chr1:150812200-150821600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr1:150812200-150822200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr1:150812200-150824600	Weak transcription	HepG2	liver
32	chr1:150812200-150824600	Weak transcription	NHEK	skin
33	chr1:150812200-150828000	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr1:150812200-150829800	Weak transcription	HUVEC	blood vessel
35	chr1:150812200-150834000	Weak transcription	Brain Angular Gyrus	brain
36	chr1:150812400-150818400	Weak transcription	Duodenum Mucosa	Duodenum
37	chr1:150812400-150818600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr1:150812400-150818800	Weak transcription	Primary neutrophils fromperipheralblood	blood
39	chr1:150812400-150819000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr1:150812400-150819200	Weak transcription	Primary B cells from peripheral blood	blood
41	chr1:150812400-150819200	Weak transcription	HSMMtube	muscle
42	chr1:150812400-150819400	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr1:150812400-150820000	Weak transcription	Brain Anterior Caudate	brain
44	chr1:150812400-150820000	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr1:150812400-150820600	Weak transcription	Aorta	Aorta
46	chr1:150812400-150820600	Weak transcription	Brain Hippocampus Middle	brain
47	chr1:150812400-150821600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr1:150812400-150824400	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr1:150812400-150824400	Weak transcription	Dnd41	blood
50	chr1:150812400-150824400	Weak transcription	GM12878-XiMat	blood

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