Variant report

Variant	rs34425257
Chromosome Location	chr2:36792274-36792275
allele	A/C
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	POLR2A	chr2:36789391-36792317	HUVEC	blood vessel:	n/a	n/a
2	POLR2A	chr2:36790059-36793180	IMR90	lung:	n/a	n/a
3	POLR2A	chr2:36790119-36793066	HepG2	liver:	n/a	n/a
4	POLR2A	chr2:36790066-36792283	HUVEC	blood vessel:	n/a	n/a
5	POLR2A	chr2:36789949-36793343	HUVEC	blood vessel:	n/a	n/a
6	POLR2A	chr2:36790098-36793260	A549	lung:	n/a	n/a
7	POLR2A	chr2:36791432-36793322	HUVEC	blood vessel:	n/a	n/a
8	POLR2A	chr2:36792101-36792344	ProgFib	skin:	n/a	n/a
9	POLR2A	chr2:36791453-36793148	HUVEC	blood vessel:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:36772254..36773765-chr2:36791620..36793561,2	K562	blood:

Variant related genes	Relation type
FEZ2	TF binding region

Extended variants
information (count: 81 )
Associated
traits (count: 6 )

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

rs_ID	r²[population]
rs10175266	0.91[EUR][1000 genomes]
rs10178965	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10179862	1.00[CHB][hapmap]
rs10180760	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];0.81[LWK][hapmap];0.95[MEX][hapmap];0.81[MKK][hapmap];0.95[TSI][hapmap];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10181664	0.81[CEU][hapmap]
rs10189344	0.81[EUR][1000 genomes]
rs10189554	0.89[EUR][1000 genomes]
rs10194100	0.92[CEU][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10197570	0.84[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.91[TSI][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10210291	1.00[CHB][hapmap];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10469897	0.81[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10469898	0.84[CEU][hapmap];0.91[CHB][hapmap];0.89[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.93[TSI][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11124519	0.85[EUR][1000 genomes]
rs11686443	0.91[CEU][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11691600	0.88[CEU][hapmap];0.90[GIH][hapmap];0.80[MEX][hapmap];0.95[TSI][hapmap];0.95[EUR][1000 genomes]
rs11693359	0.84[CEU][hapmap];0.92[EUR][1000 genomes]
rs1179494	0.91[CHB][hapmap];0.89[CHD][hapmap];0.90[JPT][hapmap];0.87[ASN][1000 genomes]
rs12105545	0.84[CEU][hapmap];0.93[TSI][hapmap];0.88[EUR][1000 genomes]
rs12712507	0.86[CHB][hapmap]
rs12712508	1.00[CHB][hapmap];0.81[AMR][1000 genomes]
rs13029475	0.86[EUR][1000 genomes]
rs13385408	0.88[CEU][hapmap];0.94[EUR][1000 genomes]
rs13398345	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13406169	0.92[CEU][hapmap];0.97[GIH][hapmap];0.90[MEX][hapmap];0.82[MKK][hapmap];0.98[TSI][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13406184	0.92[CEU][hapmap];0.97[GIH][hapmap];0.85[MEX][hapmap];0.98[TSI][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13410783	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs14291	0.84[CEU][hapmap];0.87[TSI][hapmap];0.88[EUR][1000 genomes]
rs1523786	0.92[CEU][hapmap];0.97[EUR][1000 genomes]
rs1533946	0.92[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];0.87[LWK][hapmap];0.95[MEX][hapmap];0.83[MKK][hapmap];0.98[TSI][hapmap];0.82[YRI][hapmap];0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1533947	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1533948	0.92[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];0.95[MEX][hapmap];0.85[MKK][hapmap];0.98[TSI][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1533949	0.84[CEU][hapmap];0.91[TSI][hapmap];0.89[EUR][1000 genomes]
rs17019087	0.88[CEU][hapmap];0.95[CHB][hapmap];0.84[JPT][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17488036	0.96[CEU][hapmap];0.95[GIH][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2022211	0.92[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2072533	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2072534	0.92[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.95[TSI][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2072535	0.84[CEU][hapmap];0.90[CHB][hapmap];0.92[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.91[TSI][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2075226	0.92[CEU][hapmap];0.95[CHB][hapmap];0.94[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.98[TSI][hapmap];0.82[YRI][hapmap];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2110986	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2110987	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2160403	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2160404	0.88[CEU][hapmap];1.00[CHB][hapmap];0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs34392255	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3755196	0.81[EUR][1000 genomes]
rs3770788	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3770797	0.84[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.81[YRI][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3770799	0.84[CEU][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3770809	0.88[CEU][hapmap];0.95[CHB][hapmap];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3770811	0.92[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.92[GIH][hapmap];0.95[MEX][hapmap];0.95[TSI][hapmap];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs55700228	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57670037	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6728602	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs848603	1.00[CHB][hapmap]
rs848605	1.00[CHB][hapmap]
rs848606	0.95[CHB][hapmap]
rs848607	1.00[CHB][hapmap];0.92[CHD][hapmap]
rs848610	0.84[CEU][hapmap];0.82[EUR][1000 genomes]
rs848611	0.84[CEU][hapmap];0.81[EUR][1000 genomes]
rs848612	0.81[EUR][1000 genomes]
rs848613	0.82[EUR][1000 genomes]
rs848614	0.81[EUR][1000 genomes]
rs848616	0.88[CEU][hapmap];0.89[TSI][hapmap];0.89[EUR][1000 genomes]
rs848617	0.89[CHB][hapmap];0.87[JPT][hapmap];0.87[ASN][1000 genomes]
rs848619	0.88[CEU][hapmap];0.89[TSI][hapmap];0.90[EUR][1000 genomes]
rs848624	0.92[EUR][1000 genomes]
rs848627	0.87[EUR][1000 genomes]
rs848629	0.91[EUR][1000 genomes]
rs848630	0.93[EUR][1000 genomes]
rs848631	0.94[EUR][1000 genomes]
rs848635	0.88[CEU][hapmap];0.95[EUR][1000 genomes]
rs848636	0.88[CEU][hapmap];0.94[EUR][1000 genomes]
rs848638	0.84[CEU][hapmap];0.89[TSI][hapmap];0.88[EUR][1000 genomes]
rs848639	0.84[CEU][hapmap];0.88[EUR][1000 genomes]
rs848640	0.92[EUR][1000 genomes]
rs848643	1.00[CHB][hapmap];0.89[CHD][hapmap];0.80[ASN][1000 genomes]
rs981355	1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[GIH][hapmap];0.90[MEX][hapmap];0.87[AMR][1000 genomes]
rs9917316	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9917318	0.97[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:6)

SNP	Gene	Cis/trans	Tissue	Source
rs34425257	FEZ2	cis	lymphoblastoid	seeQTL
rs34425257	FEZ2	cis	cerebellum	SCAN
rs34425257	FEZ2	cis	parietal	SCAN
rs34425257	CRIM1	cis	cerebellum	SCAN
rs34425257	FEZ2	cis	multi-tissue	Pritchard
rs34425257	FEZ2	cis	Whole Blood	GTEx

Chromatin state (count:124 , 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	chr2:36771400-36802800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr2:36773000-36811200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr2:36776600-36792600	Weak transcription	Right Ventricle	heart
5	chr2:36776600-36804800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr2:36776600-36804800	Weak transcription	Fetal Brain Female	brain
7	chr2:36777400-36795000	Weak transcription	Fetal Heart	heart
8	chr2:36779400-36805000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr2:36780000-36804800	Weak transcription	Brain Germinal Matrix	brain
10	chr2:36782000-36792400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr2:36782000-36805400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr2:36782600-36798400	Weak transcription	Gastric	stomach
13	chr2:36782800-36799600	Weak transcription	Rectal Smooth Muscle	rectum
14	chr2:36783000-36800600	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr2:36783200-36805000	Weak transcription	K562	blood
16	chr2:36783400-36805000	Weak transcription	GM12878-XiMat	blood
17	chr2:36783600-36792600	Weak transcription	Dnd41	blood
18	chr2:36783800-36794200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr2:36784800-36799200	Weak transcription	Primary T helper cells fromperipheralblood	blood
20	chr2:36785200-36800600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr2:36786400-36794200	Strong transcription	Primary T cells from cord blood	blood
22	chr2:36786400-36794800	Strong transcription	Primary B cells from cord blood	blood
23	chr2:36786600-36793200	Genic enhancers	Skeletal Muscle Female	skeletal muscle
24	chr2:36787200-36797600	Weak transcription	Fetal Lung	lung
25	chr2:36788400-36792600	Enhancers	Primary monocytes fromperipheralblood	blood
26	chr2:36788600-36805200	Weak transcription	Left Ventricle	heart
27	chr2:36788800-36792600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr2:36788800-36794000	Weak transcription	Primary hematopoietic stem cells	blood
29	chr2:36789000-36804800	Weak transcription	Fetal Kidney	kidney
30	chr2:36789200-36793000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr2:36789200-36803800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr2:36789200-36807000	Weak transcription	Aorta	Aorta
33	chr2:36789800-36793200	Strong transcription	Primary B cells from peripheral blood	blood
34	chr2:36789800-36795600	Weak transcription	Colon Smooth Muscle	Colon
35	chr2:36790000-36792400	Enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr2:36790000-36792800	Genic enhancers	NHEK	skin
37	chr2:36790200-36798000	Genic enhancers	HSMM	muscle
38	chr2:36790200-36818000	Strong transcription	Fetal Intestine Large	intestine
39	chr2:36790400-36793000	Strong transcription	Primary T cells fromperipheralblood	blood
40	chr2:36790400-36793200	Enhancers	Psoas Muscle	Psoas
41	chr2:36790400-36793400	Strong transcription	Stomach Smooth Muscle	stomach
42	chr2:36790400-36794400	Strong transcription	Fetal Stomach	stomach
43	chr2:36790400-36795600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
44	chr2:36790400-36806600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr2:36790600-36792400	Enhancers	Adipose Nuclei	Adipose
46	chr2:36790600-36792400	Enhancers	HMEC	breast
47	chr2:36790600-36792800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr2:36790600-36794200	Weak transcription	Ovary	ovary
49	chr2:36790600-36794400	Strong transcription	Duodenum Mucosa	Duodenum
50	chr2:36790600-36794600	Genic enhancers	Muscle Satellite Cultured Cells	--

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