Variant report

Variant	rs848610
Chromosome Location	chr2:36816259-36816260
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:36815051..36816653-chr2:36816912..36818432,2	K562	blood:
2	chr2:36809008..36811077-chr2:36815075..36817974,3	MCF-7	breast:
3	chr2:36812076..36814059-chr2:36815081..36816601,2	K562	blood:

Variant related genes	Relation type
ENSG00000171055	Chromatin interaction

Extended variants
information (count: 84 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:82)

rs_ID	r²[population]
rs10175266	0.84[EUR][1000 genomes]
rs10178965	0.86[EUR][1000 genomes]
rs10180760	0.88[CEU][hapmap];0.85[EUR][1000 genomes]
rs10180792	0.84[CEU][hapmap]
rs10181664	0.80[CEU][hapmap]
rs10189554	0.91[EUR][1000 genomes]
rs10194100	0.92[CEU][hapmap];0.84[EUR][1000 genomes]
rs10197570	0.83[CEU][hapmap]
rs10210291	0.84[CEU][hapmap]
rs10469897	0.96[CEU][hapmap];0.93[EUR][1000 genomes]
rs10469898	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs11124519	0.94[EUR][1000 genomes]
rs11686443	0.95[CEU][hapmap];0.84[EUR][1000 genomes]
rs11691600	0.96[CEU][hapmap];0.86[EUR][1000 genomes]
rs11691767	0.87[CEU][hapmap]
rs11693359	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs11886145	0.83[ASN][1000 genomes]
rs11899523	0.85[ASN][1000 genomes]
rs12105545	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs13029475	0.93[EUR][1000 genomes]
rs13385408	0.96[CEU][hapmap];0.84[EUR][1000 genomes]
rs13398345	0.82[EUR][1000 genomes]
rs13406169	0.92[CEU][hapmap];0.84[EUR][1000 genomes]
rs13406184	0.92[CEU][hapmap];0.84[EUR][1000 genomes]
rs13410783	0.85[EUR][1000 genomes]
rs14291	0.92[CEU][hapmap];0.88[EUR][1000 genomes]
rs1523786	0.92[CEU][hapmap];0.84[EUR][1000 genomes]
rs1533946	0.92[CEU][hapmap];0.86[EUR][1000 genomes]
rs1533947	0.81[EUR][1000 genomes]
rs1533948	0.92[CEU][hapmap];0.86[EUR][1000 genomes]
rs1533949	0.83[CEU][hapmap];0.82[EUR][1000 genomes]
rs17019087	0.89[CEU][hapmap];0.86[EUR][1000 genomes]
rs17488036	0.81[EUR][1000 genomes]
rs2022211	0.83[CEU][hapmap];0.84[EUR][1000 genomes]
rs2072533	0.85[EUR][1000 genomes]
rs2072534	0.92[CEU][hapmap];0.85[EUR][1000 genomes]
rs2072535	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs2075226	0.92[CEU][hapmap];0.84[EUR][1000 genomes]
rs2110986	0.84[EUR][1000 genomes]
rs2110987	0.85[EUR][1000 genomes]
rs2160403	0.84[EUR][1000 genomes]
rs2160404	0.88[CEU][hapmap];0.84[EUR][1000 genomes]
rs34392255	0.85[EUR][1000 genomes]
rs34425257	0.84[CEU][hapmap];0.82[EUR][1000 genomes]
rs3755196	0.80[CEU][hapmap]
rs3770788	0.86[EUR][1000 genomes]
rs3770793	0.81[ASN][1000 genomes]
rs3770796	0.85[ASN][1000 genomes]
rs3770797	0.92[CEU][hapmap];0.83[EUR][1000 genomes]
rs3770799	0.84[CEU][hapmap];0.84[EUR][1000 genomes]
rs3770809	0.88[CEU][hapmap];0.86[EUR][1000 genomes]
rs3770811	0.92[CEU][hapmap];0.86[EUR][1000 genomes]
rs3821150	0.86[ASN][1000 genomes]
rs55700228	0.83[EUR][1000 genomes]
rs6728602	0.82[EUR][1000 genomes]
rs7570763	0.85[ASN][1000 genomes]
rs848596	0.92[ASN][1000 genomes]
rs848597	0.93[ASN][1000 genomes]
rs848598	0.93[ASN][1000 genomes]
rs848600	0.89[ASN][1000 genomes]
rs848601	0.92[ASN][1000 genomes]
rs848611	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs848612	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs848613	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs848614	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs848616	0.96[CEU][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs848619	0.96[CEU][hapmap];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs848622	0.92[ASN][1000 genomes]
rs848623	0.92[ASN][1000 genomes]
rs848624	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs848627	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs848629	0.87[EUR][1000 genomes]
rs848630	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs848631	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs848635	0.88[CEU][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs848636	0.88[CEU][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs848638	1.00[CEU][hapmap];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs848639	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs848640	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs861919	0.92[ASN][1000 genomes]
rs9917316	0.83[EUR][1000 genomes]
rs9917318	0.83[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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs848610	FEZ2	cis	multi-tissue	Pritchard
rs848610	FEZ2	cis	Whole Blood	GTEx

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:36751000-36824200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:36790200-36818000	Strong transcription	Fetal Intestine Large	intestine
3	chr2:36792200-36824200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr2:36793200-36816600	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr2:36796000-36818000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr2:36796800-36818200	Weak transcription	Brain Substantia Nigra	brain
7	chr2:36798000-36818200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr2:36798200-36818000	Strong transcription	Rectal Mucosa Donor 29	rectum
9	chr2:36798400-36818600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr2:36799200-36817400	Strong transcription	Primary T helper cells fromperipheralblood	blood
11	chr2:36799200-36818000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr2:36799200-36818200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
13	chr2:36799200-36819200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
14	chr2:36799200-36822600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr2:36799800-36818000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr2:36800200-36817600	Strong transcription	Liver	Liver
17	chr2:36801000-36817800	Strong transcription	HUVEC	blood vessel
18	chr2:36801600-36818000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr2:36801600-36818000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr2:36801800-36817200	Strong transcription	Sigmoid Colon	Sigmoid Colon
21	chr2:36801800-36818400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr2:36802000-36818000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr2:36802000-36823800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr2:36803600-36818000	Strong transcription	Dnd41	blood
25	chr2:36806400-36818400	Strong transcription	HepG2	liver
26	chr2:36806800-36818200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr2:36807200-36818000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr2:36807600-36816400	Weak transcription	Brain Angular Gyrus	brain
29	chr2:36807600-36823600	Weak transcription	Spleen	Spleen
30	chr2:36808600-36818200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr2:36808600-36823400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr2:36808600-36823800	Weak transcription	Fetal Kidney	kidney
33	chr2:36808800-36816400	Weak transcription	Brain Anterior Caudate	brain
34	chr2:36808800-36822400	Weak transcription	Stomach Mucosa	stomach
35	chr2:36808800-36823400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr2:36808800-36823400	Weak transcription	Small Intestine	intestine
37	chr2:36808800-36823600	Weak transcription	Aorta	Aorta
38	chr2:36809000-36823400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
39	chr2:36810400-36818000	Strong transcription	A549	lung
40	chr2:36810400-36818400	Strong transcription	HSMM	muscle
41	chr2:36810600-36823000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr2:36810800-36822200	Weak transcription	Fetal Brain Male	brain
43	chr2:36811000-36822600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
44	chr2:36811400-36816400	Weak transcription	Right Atrium	heart
45	chr2:36811400-36821800	Weak transcription	Colonic Mucosa	Colon
46	chr2:36811400-36822600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr2:36811400-36822600	Weak transcription	Gastric	stomach
48	chr2:36811400-36823400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr2:36811400-36823600	Weak transcription	Right Ventricle	heart
50	chr2:36811600-36818400	Strong transcription	Placenta	Placenta

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