Variant report

Variant	rs10175266
Chromosome Location	chr2:36784987-36784988
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:36782918..36785562-chr2:36785906..36788265,2	K562	blood:

Variant related genes	Relation type
ENSG00000171055	Chromatin interaction

Extended variants
information (count: 72 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs10178965	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10180760	0.94[EUR][1000 genomes]
rs10181664	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10189344	0.87[EUR][1000 genomes]
rs10189554	0.89[EUR][1000 genomes]
rs10194100	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10197570	0.84[EUR][1000 genomes]
rs10210291	0.88[EUR][1000 genomes]
rs1045543	0.83[EUR][1000 genomes]
rs10469897	0.87[EUR][1000 genomes]
rs10469898	0.87[EUR][1000 genomes]
rs11124519	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11686443	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11691600	0.88[EUR][1000 genomes]
rs11693359	0.91[EUR][1000 genomes]
rs12105545	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12712508	0.83[EUR][1000 genomes]
rs13029475	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13385408	0.87[EUR][1000 genomes]
rs13398345	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13406169	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13406184	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13410783	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs14291	0.83[EUR][1000 genomes]
rs1523786	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1533946	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1533947	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1533948	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1533949	0.94[EUR][1000 genomes]
rs17019087	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17488036	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2022211	0.89[EUR][1000 genomes]
rs2072533	0.89[EUR][1000 genomes]
rs2072534	0.89[EUR][1000 genomes]
rs2072535	0.88[EUR][1000 genomes]
rs2075226	0.90[EUR][1000 genomes]
rs2110986	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2110987	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2160403	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2160404	0.95[EUR][1000 genomes]
rs34392255	0.87[EUR][1000 genomes]
rs34425257	0.91[EUR][1000 genomes]
rs3755196	0.86[EUR][1000 genomes]
rs3770788	0.88[EUR][1000 genomes]
rs3770797	0.90[EUR][1000 genomes]
rs3770799	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3770809	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3770811	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs55700228	0.87[EUR][1000 genomes]
rs6728602	0.88[EUR][1000 genomes]
rs848610	0.84[EUR][1000 genomes]
rs848611	0.83[EUR][1000 genomes]
rs848612	0.81[EUR][1000 genomes]
rs848613	0.83[EUR][1000 genomes]
rs848614	0.81[EUR][1000 genomes]
rs848616	0.82[EUR][1000 genomes]
rs848619	0.83[EUR][1000 genomes]
rs848624	0.83[EUR][1000 genomes]
rs848627	0.81[EUR][1000 genomes]
rs848629	0.84[EUR][1000 genomes]
rs848630	0.84[EUR][1000 genomes]
rs848631	0.85[EUR][1000 genomes]
rs848635	0.86[EUR][1000 genomes]
rs848636	0.85[EUR][1000 genomes]
rs848638	0.88[EUR][1000 genomes]
rs848639	0.87[EUR][1000 genomes]
rs848640	0.84[EUR][1000 genomes]
rs981355	0.81[EUR][1000 genomes]
rs9917316	0.89[EUR][1000 genomes]
rs9917318	0.81[AMR][1000 genomes];0.89[EUR][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	nsv1010985	chr2:36707157-36942066	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv535642	chr2:36707157-36942066	Genic enhancers Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10175266	FEZ2	cis	multi-tissue	Pritchard

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:36713800-36789600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:36729600-36790200	Weak transcription	Small Intestine	intestine
3	chr2:36751000-36824200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:36763200-36785200	Strong transcription	Rectal Mucosa Donor 29	rectum
5	chr2:36764000-36790200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr2:36764400-36787200	Strong transcription	Rectal Mucosa Donor 31	rectum
7	chr2:36764800-36791800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr2:36766000-36791800	Weak transcription	Esophagus	oesophagus
9	chr2:36766400-36788600	Weak transcription	Fetal Brain Male	brain
10	chr2:36769800-36790400	Weak transcription	Spleen	Spleen
11	chr2:36771000-36789000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr2:36771200-36788400	Weak transcription	Stomach Mucosa	stomach
13	chr2:36771400-36802800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr2:36773000-36811200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr2:36774400-36789000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr2:36776600-36786600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr2:36776600-36792600	Weak transcription	Right Ventricle	heart
18	chr2:36776600-36804800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr2:36776600-36804800	Weak transcription	Fetal Brain Female	brain
20	chr2:36777400-36786400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr2:36777400-36786600	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr2:36777400-36790600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr2:36777400-36795000	Weak transcription	Fetal Heart	heart
24	chr2:36777800-36788000	Weak transcription	Brain Anterior Caudate	brain
25	chr2:36778200-36785200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr2:36778600-36790400	Weak transcription	Psoas Muscle	Psoas
27	chr2:36779200-36786400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr2:36779200-36786600	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr2:36779200-36788800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr2:36779200-36791600	Weak transcription	Fetal Intestine Small	intestine
31	chr2:36779400-36786600	Weak transcription	Hela-S3	cervix
32	chr2:36779400-36788400	Weak transcription	Aorta	Aorta
33	chr2:36779400-36788400	Weak transcription	Ovary	ovary
34	chr2:36779400-36789000	Weak transcription	Brain Hippocampus Middle	brain
35	chr2:36779400-36789600	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr2:36779400-36789600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr2:36779400-36805000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr2:36779800-36786400	Weak transcription	Fetal Lung	lung
39	chr2:36779800-36789200	Weak transcription	Brain Substantia Nigra	brain
40	chr2:36780000-36787800	Weak transcription	Fetal Kidney	kidney
41	chr2:36780000-36804800	Weak transcription	Brain Germinal Matrix	brain
42	chr2:36780400-36785400	Genic enhancers	HUVEC	blood vessel
43	chr2:36780800-36790400	Weak transcription	Pancreas	Pancrea
44	chr2:36781000-36788000	Weak transcription	Brain Angular Gyrus	brain
45	chr2:36781200-36788400	Weak transcription	Left Ventricle	heart
46	chr2:36781400-36786600	Strong transcription	Skeletal Muscle Female	skeletal muscle
47	chr2:36781400-36791800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr2:36781600-36786200	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr2:36782000-36790200	Weak transcription	Thymus	Thymus
50	chr2:36782000-36792400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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