Variant report

Variant	rs35121
Chromosome Location	chr12:46288482-46288483
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:46282601..46285658-chr12:46286027..46288801,3	K562	blood:

Extended variants
information (count: 57 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs1012642	0.80[ASW][hapmap];0.96[CEU][hapmap];0.86[CHB][hapmap];0.84[CHD][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];0.96[MEX][hapmap];0.98[TSI][hapmap];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10748432	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10785593	0.87[ASN][1000 genomes]
rs10880855	1.00[CEU][hapmap];0.91[CHB][hapmap];0.91[CHD][hapmap];0.86[JPT][hapmap];0.92[MEX][hapmap];0.98[TSI][hapmap]
rs10880859	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10880860	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10880864	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10880871	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10880875	0.96[CEU][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10880879	0.96[CEU][hapmap];0.95[CHB][hapmap];0.90[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.98[TSI][hapmap];0.87[ASN][1000 genomes]
rs10880880	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.98[TSI][hapmap];0.87[YRI][hapmap];0.87[ASN][1000 genomes]
rs10880884	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.85[ASN][1000 genomes]
rs11183184	0.88[ASW][hapmap];0.83[MEX][hapmap];1.00[YRI][hapmap]
rs11183201	1.00[CEU][hapmap];0.91[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11183210	0.80[JPT][hapmap]
rs11183241	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11183243	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11183268	0.87[ASN][1000 genomes]
rs11183272	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs12314770	1.00[ASW][hapmap];0.96[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];0.96[MEX][hapmap];1.00[MKK][hapmap];0.98[TSI][hapmap];0.88[YRI][hapmap]
rs12319077	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs1366024	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];1.00[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1468993	1.00[CEU][hapmap];0.86[CHB][hapmap];0.90[CHD][hapmap];0.98[GIH][hapmap];0.86[JPT][hapmap];0.87[MEX][hapmap];0.98[TSI][hapmap]
rs1650008	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17096380	0.90[LWK][hapmap]
rs1863127	1.00[ASW][hapmap];0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];0.96[MEX][hapmap];0.96[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2059404	0.95[CEU][hapmap];0.94[CHB][hapmap];0.90[JPT][hapmap];0.95[TSI][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2193749	1.00[ASW][hapmap];1.00[CEU][hapmap];0.91[CHB][hapmap];0.90[CHD][hapmap];0.98[GIH][hapmap];0.86[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap]
rs2408435	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.95[TSI][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs247917	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs247918	0.91[CEU][hapmap];0.89[CHB][hapmap];0.94[JPT][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs247919	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs247920	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs247929	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs247930	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35115	1.00[ASW][hapmap];0.96[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35117	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35122	0.96[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35125	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6582574	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7132422	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7138997	1.00[ASW][hapmap];0.96[CEU][hapmap];0.90[CHB][hapmap];0.90[CHD][hapmap];0.98[GIH][hapmap];0.85[JPT][hapmap];1.00[LWK][hapmap];0.96[MEX][hapmap];0.96[MKK][hapmap];1.00[YRI][hapmap]
rs724909	0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];0.96[MEX][hapmap];0.98[TSI][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7298703	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7306229	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7315731	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7955891	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7967208	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7970129	0.85[ASN][1000 genomes]
rs7971993	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs7976870	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7979218	0.85[YRI][hapmap]
rs997307	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758306	chr12:46149338-46349891	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	esv2759897	chr12:46149338-46349891	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv832396	chr12:46155424-46310583	Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv832397	chr12:46265990-46453733	Strong transcription ZNF genes & repeats Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs35121	MESP1	trans	cerebellum	SCAN

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:46245400-46318600	Weak transcription	Small Intestine	intestine
2	chr12:46259000-46316600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr12:46269000-46319200	Weak transcription	Spleen	Spleen
4	chr12:46269200-46289000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr12:46269400-46316200	Weak transcription	Brain Angular Gyrus	brain
6	chr12:46269800-46315800	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr12:46273400-46307600	Weak transcription	NHLF	lung
8	chr12:46273400-46310200	Weak transcription	Stomach Mucosa	stomach
9	chr12:46273400-46311200	Weak transcription	Right Ventricle	heart
10	chr12:46273400-46314400	Weak transcription	Brain Substantia Nigra	brain
11	chr12:46275000-46288600	Weak transcription	Fetal Heart	heart
12	chr12:46275200-46290000	Weak transcription	Fetal Brain Male	brain
13	chr12:46277800-46292400	Strong transcription	Dnd41	blood
14	chr12:46279800-46288800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr12:46280200-46289600	Weak transcription	Brain Hippocampus Middle	brain
16	chr12:46280200-46290000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr12:46280200-46303400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr12:46280400-46288600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr12:46280400-46288600	Weak transcription	Pancreas	Pancrea
20	chr12:46280600-46288600	Weak transcription	Gastric	stomach
21	chr12:46280600-46300800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr12:46280800-46295400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr12:46281000-46289400	Weak transcription	Fetal Stomach	stomach
24	chr12:46281400-46328800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr12:46283600-46289400	Weak transcription	Fetal Intestine Small	intestine
26	chr12:46285000-46289200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr12:46285000-46289800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr12:46285000-46292200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
29	chr12:46285000-46292200	Strong transcription	Primary monocytes fromperipheralblood	blood
30	chr12:46285000-46292200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
31	chr12:46285000-46292200	Strong transcription	Rectal Mucosa Donor 29	rectum
32	chr12:46285000-46292400	Strong transcription	Liver	Liver
33	chr12:46285000-46295800	Strong transcription	Fetal Thymus	thymus
34	chr12:46285400-46291400	Strong transcription	Primary B cells from peripheral blood	blood
35	chr12:46285400-46292200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
36	chr12:46285400-46292200	Strong transcription	Placenta	Placenta
37	chr12:46285400-46292600	Strong transcription	HUES48 Cell Line	embryonic stem cell
38	chr12:46285400-46292600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr12:46285400-46292600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr12:46285400-46293000	Strong transcription	Primary neutrophils fromperipheralblood	blood
41	chr12:46285400-46295800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr12:46285600-46289200	Strong transcription	K562	blood
43	chr12:46285600-46290200	Strong transcription	Brain Cingulate Gyrus	brain
44	chr12:46285600-46290400	Strong transcription	HSMMtube	muscle
45	chr12:46285600-46290600	Strong transcription	Skeletal Muscle Male	skeletal muscle
46	chr12:46285600-46290600	Strong transcription	HepG2	liver
47	chr12:46285600-46291000	Strong transcription	Fetal Intestine Large	intestine
48	chr12:46285600-46291000	Strong transcription	Fetal Muscle Leg	muscle
49	chr12:46285600-46291200	Strong transcription	Adipose Nuclei	Adipose
50	chr12:46285600-46291400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links