Variant report

Variant	rs954921
Chromosome Location	chr12:104173630-104173631
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 79 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs10778285	1.00[ASN][1000 genomes]
rs10861092	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10861093	1.00[CHB][hapmap];0.87[JPT][hapmap];1.00[ASN][1000 genomes]
rs10861094	0.86[YRI][hapmap];0.90[AFR][1000 genomes]
rs10861095	1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs10861096	1.00[ASW][hapmap];0.92[LWK][hapmap];0.88[MKK][hapmap];0.86[TSI][hapmap];0.93[YRI][hapmap];0.84[AFR][1000 genomes]
rs10861097	1.00[ASW][hapmap];0.96[LWK][hapmap];0.88[MKK][hapmap];0.86[TSI][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs10861098	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10861099	0.86[ASW][hapmap];0.81[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];0.85[GIH][hapmap];0.87[JPT][hapmap];0.85[LWK][hapmap];0.96[MEX][hapmap];0.97[MKK][hapmap];0.82[TSI][hapmap];0.86[YRI][hapmap];0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10861102	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10861103	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11111751	1.00[CHB][hapmap];0.89[CHD][hapmap];0.87[JPT][hapmap];1.00[ASN][1000 genomes]
rs11111754	0.90[AFR][1000 genomes]
rs11111755	0.90[AFR][1000 genomes]
rs11111759	0.91[AFR][1000 genomes]
rs11111761	0.90[CHB][hapmap];0.89[CHD][hapmap];0.81[JPT][hapmap];0.80[MKK][hapmap];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11111762	0.84[AFR][1000 genomes]
rs11111764	1.00[CHB][hapmap];0.89[CHD][hapmap];0.87[JPT][hapmap];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11111766	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11111772	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11111773	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11111775	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11111781	0.86[ASW][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];0.85[GIH][hapmap];0.87[JPT][hapmap];0.87[MEX][hapmap];0.99[ASN][1000 genomes]
rs11111782	0.86[ASW][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];0.85[GIH][hapmap];0.87[JPT][hapmap];0.87[MEX][hapmap];0.99[ASN][1000 genomes]
rs11111783	0.86[ASW][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];0.85[GIH][hapmap];0.81[JPT][hapmap];0.87[MEX][hapmap];0.99[ASN][1000 genomes]
rs11111787	0.99[ASN][1000 genomes]
rs12424737	1.00[CHB][hapmap];0.96[ASN][1000 genomes]
rs1370777	0.80[ASW][hapmap];0.81[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];0.85[GIH][hapmap];0.87[JPT][hapmap];0.96[MEX][hapmap];0.82[TSI][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1370778	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1370779	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1866293	1.00[CHB][hapmap];0.86[JPT][hapmap];0.99[ASN][1000 genomes]
rs1866294	0.86[ASW][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];0.85[GIH][hapmap];0.87[JPT][hapmap];0.87[MEX][hapmap];0.99[ASN][1000 genomes]
rs1866295	0.86[ASW][hapmap]
rs1866296	1.00[CHB][hapmap];0.87[JPT][hapmap];0.99[ASN][1000 genomes]
rs1968513	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2888792	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3751204	1.00[ASW][hapmap];0.96[LWK][hapmap];0.88[MKK][hapmap];0.86[TSI][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs3751205	1.00[CHB][hapmap];0.89[CHD][hapmap];0.87[JPT][hapmap];0.81[MKK][hapmap];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3812805	0.86[TSI][hapmap]
rs4964298	0.81[AFR][1000 genomes]
rs4964794	0.86[ASW][hapmap]
rs4964805	0.86[ASW][hapmap]
rs4964806	0.86[ASW][hapmap]
rs4964813	0.99[ASN][1000 genomes]
rs4964814	0.86[ASW][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];0.85[GIH][hapmap];0.87[JPT][hapmap];0.87[MEX][hapmap];0.99[ASN][1000 genomes]
rs4964819	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4964820	0.86[ASW][hapmap];0.81[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];0.85[GIH][hapmap];0.87[JPT][hapmap];0.96[MEX][hapmap];0.81[MKK][hapmap];0.82[TSI][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4964830	0.86[TSI][hapmap]
rs4981032	0.84[AFR][1000 genomes]
rs4981035	1.00[CHB][hapmap];0.89[CHD][hapmap];0.87[JPT][hapmap];0.81[MKK][hapmap];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4981036	0.82[AFR][1000 genomes]
rs5001722	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58421738	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs61602054	0.97[ASN][1000 genomes]
rs7136682	0.91[ASN][1000 genomes]
rs7296900	1.00[CHB][hapmap];0.89[CHD][hapmap];0.87[JPT][hapmap];0.91[MEX][hapmap];1.00[ASN][1000 genomes]
rs7312606	0.99[ASN][1000 genomes]
rs7312825	0.99[ASN][1000 genomes]
rs73192049	0.96[ASN][1000 genomes]
rs751448	0.86[TSI][hapmap]
rs7973081	1.00[ASN][1000 genomes]
rs869993	0.92[YRI][hapmap]
rs9084	1.00[CHB][hapmap];0.89[CHD][hapmap];0.87[JPT][hapmap];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9132	1.00[ASW][hapmap];0.96[LWK][hapmap];0.88[MKK][hapmap];0.86[TSI][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs9142	1.00[CHB][hapmap];0.89[CHD][hapmap];0.87[JPT][hapmap];0.81[MKK][hapmap];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs934843	0.86[ASW][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];0.85[GIH][hapmap];0.87[JPT][hapmap];0.96[MEX][hapmap];0.81[MKK][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs934845	1.00[CHB][hapmap];0.87[JPT][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs934846	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9706225	0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899480	chr12:104092996-104211440	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv899481	chr12:104092996-104213731	Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv899482	chr12:104092996-104218956	Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	esv34031	chr12:104114277-104298546	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
5	nsv899483	chr12:104117462-104218956	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv899487	chr12:104118587-104218956	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv899489	chr12:104144835-104218956	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv899490	chr12:104149022-104218956	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv899491	chr12:104151560-104175575	Genic enhancers Strong transcription Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv899492	chr12:104151560-104183658	Transcr. at gene 5' and 3' Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs954921	RP11-341G23.4	cis	Artery Tibial	GTEx

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104153200-104185200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr12:104154400-104186400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr12:104155000-104178000	Weak transcription	Colonic Mucosa	Colon
4	chr12:104157400-104191200	Weak transcription	HUVEC	blood vessel
5	chr12:104160400-104185800	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr12:104163000-104178400	Strong transcription	NHEK	skin
7	chr12:104163200-104175200	Weak transcription	Psoas Muscle	Psoas
8	chr12:104163600-104174000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr12:104163600-104185000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr12:104163600-104204200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr12:104165800-104173800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr12:104165800-104193400	Weak transcription	Fetal Lung	lung
13	chr12:104166400-104188400	Weak transcription	Fetal Thymus	thymus
14	chr12:104167000-104174400	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr12:104167200-104176000	Weak transcription	Small Intestine	intestine
16	chr12:104167200-104199800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr12:104167800-104173800	Strong transcription	A549	lung
18	chr12:104168000-104176800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr12:104168000-104178800	Weak transcription	Hela-S3	cervix
20	chr12:104168000-104185200	Weak transcription	Brain Germinal Matrix	brain
21	chr12:104168000-104190800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr12:104168600-104180800	Strong transcription	Stomach Smooth Muscle	stomach
23	chr12:104168800-104174000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr12:104168800-104174000	Strong transcription	Fetal Muscle Trunk	muscle
25	chr12:104168800-104174200	Strong transcription	Rectal Mucosa Donor 31	rectum
26	chr12:104168800-104175400	Strong transcription	Primary neutrophils fromperipheralblood	blood
27	chr12:104169000-104174200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr12:104169000-104175000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr12:104169000-104176800	Strong transcription	Liver	Liver
30	chr12:104169000-104197800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr12:104169200-104180200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr12:104169400-104174800	Strong transcription	HUES64 Cell Line	embryonic stem cell
33	chr12:104169600-104174200	Strong transcription	Colon Smooth Muscle	Colon
34	chr12:104169600-104184800	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr12:104170000-104173800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr12:104170200-104174400	Strong transcription	Fetal Stomach	stomach
37	chr12:104170400-104179200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr12:104170400-104180400	Strong transcription	Monocytes-CD14+_RO01746	blood
39	chr12:104170600-104174000	Strong transcription	Primary T helper cells fromperipheralblood	blood
40	chr12:104170600-104174000	Strong transcription	Duodenum Smooth Muscle	Duodenum
41	chr12:104170600-104174200	Strong transcription	Primary T cells from cord blood	blood
42	chr12:104170600-104174200	Strong transcription	Aorta	Aorta
43	chr12:104170600-104175000	Strong transcription	Primary monocytes fromperipheralblood	blood
44	chr12:104170600-104175200	Strong transcription	Adipose Nuclei	Adipose
45	chr12:104170600-104177200	Strong transcription	Fetal Intestine Large	intestine
46	chr12:104170600-104179400	Strong transcription	Primary B cells from peripheral blood	blood
47	chr12:104170800-104174400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
48	chr12:104170800-104174800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
49	chr12:104170800-104175800	Strong transcription	HepG2	liver
50	chr12:104170800-104176600	Strong transcription	Fetal Intestine Small	intestine

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