Variant report

Variant	rs2135985
Chromosome Location	chr2:73089477-73089478
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:73089395..73090340-chr2:73161832..73162679,3	K562	blood:
2	chr2:72997801..72998975-chr2:73089049..73090244,9	MCF-7	breast:
3	chr2:73089411..73090326-chr2:73404255..73404960,4	K562	blood:
4	chr2:73089438..73090336-chr2:73439331..73440047,4	MCF-7	breast:
5	chr2:73087670..73090180-chr2:73094273..73097260,2	K562	blood:
6	chr2:72997697..72998629-chr2:73089302..73090282,5	K562	blood:

Extended variants
information (count: 52 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10211019	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1027848	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10496186	0.91[CEU][hapmap]
rs10865393	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11126385	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1150500	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap]
rs1161265	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap]
rs1161267	1.00[CEU][hapmap]
rs11684985	0.84[CEU][hapmap]
rs11894160	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12474728	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12622275	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12713775	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.82[TSI][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12989141	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12996406	0.91[CEU][hapmap]
rs13035731	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1567230	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1995734	0.91[CEU][hapmap];0.83[EUR][1000 genomes]
rs2048170	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2048171	0.91[CEU][hapmap]
rs2420880	1.00[CEU][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2420881	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2420883	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2421095	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4321391	1.00[CEU][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4852298	0.91[CEU][hapmap];1.00[CHD][hapmap];0.87[TSI][hapmap]
rs4852893	1.00[CEU][hapmap];1.00[GIH][hapmap];0.87[TSI][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4852902	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6546782	0.91[CEU][hapmap]
rs6546783	0.91[CEU][hapmap]
rs6546786	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6546788	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6546789	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6546790	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6546791	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6546792	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6730083	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs6739002	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6750740	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6758431	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6758542	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7571064	0.84[CEU][hapmap];1.00[CHD][hapmap];0.81[TSI][hapmap]
rs7580268	0.91[CEU][hapmap];0.82[EUR][1000 genomes]
rs7586787	0.94[EUR][1000 genomes]
rs7588602	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7592155	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.87[TSI][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs925146	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs925147	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs925148	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs990569	0.91[CEU][hapmap];1.00[CHD][hapmap];0.87[TSI][hapmap]

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	nsv834259	chr2:72941118-73114106	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv532723	chr2:73088191-73219259	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2135985	MPHOSPH10	cis	cerebellum	SCAN
rs2135985	CYP26B1	cis	Whole Blood	GTEx

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:73089200-73089600	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
2	chr2:73089200-73089600	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
3	chr2:73089200-73089600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr2:73089200-73089600	Enhancers	Gastric	stomach
5	chr2:73089200-73089600	Flanking Active TSS	A549	lung
6	chr2:73089200-73089600	Enhancers	NHEK	skin
7	chr2:73089200-73089800	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
8	chr2:73089200-73089800	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
9	chr2:73089200-73089800	Enhancers	Pancreas	Pancrea
10	chr2:73089200-73089800	Flanking Bivalent TSS/Enh	HepG2	liver
11	chr2:73089200-73090000	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
12	chr2:73089200-73090200	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
13	chr2:73089200-73090200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
14	chr2:73089200-73090400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr2:73089200-73090400	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
16	chr2:73089200-73090400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr2:73089200-73090400	Active TSS	Brain Angular Gyrus	brain
18	chr2:73089200-73090400	Flanking Active TSS	Brain Anterior Caudate	brain
19	chr2:73089200-73090400	Active TSS	Pancreatic Islets	Pancreatic Islet
20	chr2:73089200-73090400	Flanking Active TSS	Hela-S3	cervix
21	chr2:73089200-73090600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
22	chr2:73089400-73089600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr2:73089400-73089600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr2:73089400-73089600	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
25	chr2:73089400-73089600	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr2:73089400-73089600	Flanking Bivalent TSS/Enh	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr2:73089400-73089600	Bivalent Enhancer	Primary B cells from cord blood	blood
28	chr2:73089400-73089600	Bivalent/Poised TSS	Primary T cells from cord blood	blood
29	chr2:73089400-73089600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
30	chr2:73089400-73089600	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
31	chr2:73089400-73089600	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
32	chr2:73089400-73089600	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
33	chr2:73089400-73089600	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
34	chr2:73089400-73089600	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
35	chr2:73089400-73089600	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr2:73089400-73089600	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
37	chr2:73089400-73089600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr2:73089400-73089600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr2:73089400-73089600	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
40	chr2:73089400-73089600	Flanking Bivalent TSS/Enh	Brain Inferior Temporal Lobe	brain
41	chr2:73089400-73089600	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
42	chr2:73089400-73089600	Flanking Active TSS	Colon Smooth Muscle	Colon
43	chr2:73089400-73089600	Enhancers	Esophagus	oesophagus
44	chr2:73089400-73089600	Bivalent Enhancer	Fetal Intestine Small	intestine
45	chr2:73089400-73089600	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
46	chr2:73089400-73089600	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 31	rectum
47	chr2:73089400-73089600	Flanking Bivalent TSS/Enh	Rectal Smooth Muscle	rectum
48	chr2:73089400-73089600	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
49	chr2:73089400-73089600	Flanking Bivalent TSS/Enh	HUVEC	blood vessel
50	chr2:73089400-73089600	Flanking Active TSS	K562	blood

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