Variant report

Variant	rs848640
Chromosome Location	chr2:36806670-36806671
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SP1	chr2:36805834-36806754	A549	lung:	n/a	n/a
2	MAX	chr2:36805463-36806770	A549	lung:	n/a	n/a
3	BCL3	chr2:36805871-36806679	A549	lung:	n/a	n/a
4	CTCF	chr2:36806580-36806730	A549	lung:	n/a	n/a
5	GATA3	chr2:36805772-36806729	MCF-7	breast:	n/a	chr2:36806425-36806435
6	GATA3	chr2:36805725-36806705	A549	lung:	n/a	chr2:36806425-36806435
7	TCF12	chr2:36805774-36806756	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:36806495..36808233-chr2:36823601..36825272,2	K562	blood:

Variant related genes	Relation type
FEZ2	TF binding region

Extended variants
information (count: 81 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:79)

rs_ID	r²[population]
rs10175266	0.84[EUR][1000 genomes]
rs10178965	0.86[EUR][1000 genomes]
rs10180760	0.85[EUR][1000 genomes]
rs10189554	0.86[EUR][1000 genomes]
rs10194100	0.84[EUR][1000 genomes]
rs10197570	0.87[EUR][1000 genomes]
rs10210291	0.81[EUR][1000 genomes]
rs10469897	0.81[EUR][1000 genomes]
rs10469898	0.81[EUR][1000 genomes]
rs11124519	0.82[EUR][1000 genomes]
rs11686443	0.87[EUR][1000 genomes]
rs11691600	0.92[EUR][1000 genomes]
rs11693359	0.88[EUR][1000 genomes]
rs11886145	0.82[ASN][1000 genomes]
rs11899523	0.86[ASN][1000 genomes]
rs12105545	0.84[EUR][1000 genomes]
rs13029475	0.82[EUR][1000 genomes]
rs13385408	0.91[EUR][1000 genomes]
rs13398345	0.91[EUR][1000 genomes]
rs13406169	0.87[EUR][1000 genomes]
rs13406184	0.87[EUR][1000 genomes]
rs13410783	0.85[EUR][1000 genomes]
rs14291	0.96[EUR][1000 genomes]
rs1523786	0.92[EUR][1000 genomes]
rs1533946	0.86[EUR][1000 genomes]
rs1533947	0.83[EUR][1000 genomes]
rs1533948	0.86[EUR][1000 genomes]
rs1533949	0.83[EUR][1000 genomes]
rs17019087	0.86[EUR][1000 genomes]
rs17488036	0.90[EUR][1000 genomes]
rs2022211	0.93[EUR][1000 genomes]
rs2072533	0.94[EUR][1000 genomes]
rs2072534	0.94[EUR][1000 genomes]
rs2072535	0.82[EUR][1000 genomes]
rs2075226	0.94[EUR][1000 genomes]
rs2110986	0.93[EUR][1000 genomes]
rs2110987	0.85[EUR][1000 genomes]
rs2160403	0.87[EUR][1000 genomes]
rs2160404	0.87[EUR][1000 genomes]
rs34392255	0.92[EUR][1000 genomes]
rs34425257	0.92[EUR][1000 genomes]
rs3770788	0.93[EUR][1000 genomes]
rs3770793	0.82[ASN][1000 genomes]
rs3770796	0.84[ASN][1000 genomes]
rs3770797	0.92[EUR][1000 genomes]
rs3770799	0.84[EUR][1000 genomes]
rs3770809	0.86[EUR][1000 genomes]
rs3770811	0.86[EUR][1000 genomes]
rs3821150	0.85[ASN][1000 genomes]
rs55700228	0.93[EUR][1000 genomes]
rs57670037	0.82[EUR][1000 genomes]
rs6728602	0.92[EUR][1000 genomes]
rs7570763	0.86[ASN][1000 genomes]
rs848596	0.93[ASN][1000 genomes]
rs848597	0.92[ASN][1000 genomes]
rs848598	0.92[ASN][1000 genomes]
rs848600	0.88[ASN][1000 genomes]
rs848601	0.90[ASN][1000 genomes]
rs848610	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs848611	0.87[EUR][1000 genomes]
rs848612	0.87[EUR][1000 genomes]
rs848613	0.88[EUR][1000 genomes]
rs848614	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs848616	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs848619	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs848622	0.83[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs848623	0.93[ASN][1000 genomes]
rs848624	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs848627	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs848629	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs848630	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs848631	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs848635	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs848636	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs848638	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs848639	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs861919	0.90[ASN][1000 genomes]
rs9917316	0.93[EUR][1000 genomes]
rs9917318	0.92[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
rs848640	FEZ2	cis	Whole Blood	GTEx

Chromatin state (count:126 , 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	chr2:36773000-36811200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr2:36789200-36807000	Weak transcription	Aorta	Aorta
4	chr2:36790200-36818000	Strong transcription	Fetal Intestine Large	intestine
5	chr2:36790800-36812000	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr2:36791000-36807600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr2:36791800-36810400	Weak transcription	Right Atrium	heart
8	chr2:36792200-36810400	Weak transcription	Colonic Mucosa	Colon
9	chr2:36792200-36824200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr2:36792800-36811400	Strong transcription	Primary monocytes fromperipheralblood	blood
11	chr2:36793200-36811200	Weak transcription	Pancreas	Pancrea
12	chr2:36793200-36816600	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr2:36795800-36809600	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr2:36796000-36818000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr2:36796200-36807400	Weak transcription	Ovary	ovary
16	chr2:36796800-36818200	Weak transcription	Brain Substantia Nigra	brain
17	chr2:36797000-36807400	Weak transcription	Fetal Heart	heart
18	chr2:36797000-36808200	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr2:36797000-36814200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr2:36797600-36808800	Strong transcription	Primary neutrophils fromperipheralblood	blood
21	chr2:36797800-36813400	Strong transcription	Primary B cells from peripheral blood	blood
22	chr2:36798000-36809600	Strong transcription	HSMM	muscle
23	chr2:36798000-36818200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr2:36798200-36818000	Strong transcription	Rectal Mucosa Donor 29	rectum
25	chr2:36798400-36818600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr2:36798800-36811200	Weak transcription	Gastric	stomach
27	chr2:36799200-36812800	Strong transcription	Duodenum Mucosa	Duodenum
28	chr2:36799200-36817400	Strong transcription	Primary T helper cells fromperipheralblood	blood
29	chr2:36799200-36818000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr2:36799200-36818200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
31	chr2:36799200-36819200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
32	chr2:36799200-36822600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr2:36799400-36812800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr2:36799800-36818000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr2:36800200-36810400	Strong transcription	Osteobl	bone
36	chr2:36800200-36814400	Strong transcription	Primary hematopoietic stem cells	blood
37	chr2:36800200-36817600	Strong transcription	Liver	Liver
38	chr2:36800400-36807000	Weak transcription	Brain Cingulate Gyrus	brain
39	chr2:36800600-36807000	Weak transcription	Rectal Smooth Muscle	rectum
40	chr2:36800600-36807800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr2:36800600-36809000	Strong transcription	Primary T helper cells PMA-I stimulated	--
42	chr2:36800800-36808600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr2:36801000-36817800	Strong transcription	HUVEC	blood vessel
44	chr2:36801200-36810800	Strong transcription	HUES64 Cell Line	embryonic stem cell
45	chr2:36801400-36813200	Strong transcription	Fetal Lung	lung
46	chr2:36801600-36818000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr2:36801600-36818000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr2:36801800-36811200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr2:36801800-36812200	Strong transcription	Fetal Thymus	thymus
50	chr2:36801800-36813800	Strong transcription	Fetal Muscle Leg	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links