Variant report

Variant	rs848635
Chromosome Location	chr2:36794316-36794317
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	chr2:36784816..36786954-chr2:36794051..36795716,2	K562	blood:

Variant related genes	Relation type
ENSG00000171055	Chromatin interaction

Extended variants
information (count: 83 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:81)

rs_ID	r²[population]
rs10175266	0.86[EUR][1000 genomes]
rs10178965	0.88[EUR][1000 genomes]
rs10180760	0.83[CEU][hapmap];0.87[EUR][1000 genomes]
rs10189554	0.84[EUR][1000 genomes]
rs10194100	0.88[CEU][hapmap];0.86[EUR][1000 genomes]
rs10197570	0.87[CEU][hapmap];0.87[EUR][1000 genomes]
rs10210291	0.82[EUR][1000 genomes]
rs10469897	0.88[CEU][hapmap];0.80[EUR][1000 genomes]
rs10469898	0.87[CEU][hapmap];0.80[EUR][1000 genomes]
rs11124519	0.80[EUR][1000 genomes]
rs11686443	0.91[CEU][hapmap];0.90[EUR][1000 genomes]
rs11691600	0.91[CEU][hapmap];0.90[EUR][1000 genomes]
rs11693359	0.88[CEU][hapmap];0.87[EUR][1000 genomes]
rs11886145	0.80[ASN][1000 genomes]
rs11899523	0.84[ASN][1000 genomes]
rs12105545	0.87[CEU][hapmap];0.83[EUR][1000 genomes]
rs13029475	0.81[EUR][1000 genomes]
rs13385408	0.92[CEU][hapmap];0.88[EUR][1000 genomes]
rs13398345	0.94[EUR][1000 genomes]
rs13406169	0.87[CEU][hapmap];0.90[EUR][1000 genomes]
rs13406184	0.87[CEU][hapmap];0.90[EUR][1000 genomes]
rs13410783	0.88[EUR][1000 genomes]
rs14291	0.87[CEU][hapmap];0.94[EUR][1000 genomes]
rs1523786	0.88[CEU][hapmap];0.92[EUR][1000 genomes]
rs1533946	0.87[CEU][hapmap];0.88[EUR][1000 genomes]
rs1533947	0.85[EUR][1000 genomes]
rs1533948	0.87[CEU][hapmap];0.88[EUR][1000 genomes]
rs1533949	0.85[EUR][1000 genomes]
rs17019087	0.84[CEU][hapmap];0.88[EUR][1000 genomes]
rs17488036	0.92[CEU][hapmap];0.93[EUR][1000 genomes]
rs2022211	0.96[CEU][hapmap];0.93[EUR][1000 genomes]
rs2072533	0.92[EUR][1000 genomes]
rs2072534	0.87[CEU][hapmap];0.92[EUR][1000 genomes]
rs2072535	0.87[CEU][hapmap];0.81[EUR][1000 genomes]
rs2075226	0.87[CEU][hapmap];0.93[EUR][1000 genomes]
rs2110986	0.93[EUR][1000 genomes]
rs2110987	0.88[EUR][1000 genomes]
rs2160403	0.90[EUR][1000 genomes]
rs2160404	0.92[CEU][hapmap];0.90[EUR][1000 genomes]
rs2276671	0.92[CHB][hapmap];0.85[JPT][hapmap]
rs34392255	0.90[EUR][1000 genomes]
rs34425257	0.88[CEU][hapmap];0.95[EUR][1000 genomes]
rs3770788	0.90[EUR][1000 genomes]
rs3770793	0.83[CHB][hapmap];0.85[JPT][hapmap];0.80[ASN][1000 genomes]
rs3770796	0.87[ASN][1000 genomes]
rs3770797	0.96[CEU][hapmap];0.94[EUR][1000 genomes]
rs3770799	0.88[CEU][hapmap];0.87[EUR][1000 genomes]
rs3770809	0.92[CEU][hapmap];0.88[EUR][1000 genomes]
rs3770811	0.87[CEU][hapmap];0.88[EUR][1000 genomes]
rs3770818	0.84[CHB][hapmap];0.80[JPT][hapmap]
rs3821150	0.92[CHB][hapmap];0.81[JPT][hapmap];0.85[ASN][1000 genomes]
rs55700228	0.90[EUR][1000 genomes]
rs57670037	0.81[EUR][1000 genomes]
rs6728602	0.91[EUR][1000 genomes]
rs7570763	1.00[CHB][hapmap];0.85[JPT][hapmap];0.84[ASN][1000 genomes]
rs848596	0.83[CHB][hapmap];1.00[JPT][hapmap];0.87[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs848597	0.83[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs848598	0.92[ASN][1000 genomes]
rs848600	0.83[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs848601	0.91[ASN][1000 genomes]
rs848610	0.88[CEU][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs848611	0.88[CEU][hapmap];0.85[EUR][1000 genomes]
rs848612	0.85[EUR][1000 genomes]
rs848613	0.86[EUR][1000 genomes]
rs848614	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs848616	0.91[CEU][hapmap];0.95[EUR][1000 genomes]
rs848619	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs848622	0.83[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs848623	0.91[ASN][1000 genomes]
rs848624	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs848627	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs848629	0.97[EUR][1000 genomes]
rs848630	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs848631	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs848636	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs848638	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs848639	0.88[CEU][hapmap];0.85[CHB][hapmap];0.87[JPT][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs848640	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs861919	0.83[CHB][hapmap];1.00[JPT][hapmap];0.91[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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs848635	FEZ2	cis	multi-tissue	Pritchard
rs848635	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	chr2:36776600-36804800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr2:36776600-36804800	Weak transcription	Fetal Brain Female	brain
6	chr2:36777400-36795000	Weak transcription	Fetal Heart	heart
7	chr2:36779400-36805000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr2:36780000-36804800	Weak transcription	Brain Germinal Matrix	brain
9	chr2:36782000-36805400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr2:36782600-36798400	Weak transcription	Gastric	stomach
11	chr2:36782800-36799600	Weak transcription	Rectal Smooth Muscle	rectum
12	chr2:36783000-36800600	Weak transcription	Primary T helper cells PMA-I stimulated	--
13	chr2:36783200-36805000	Weak transcription	K562	blood
14	chr2:36783400-36805000	Weak transcription	GM12878-XiMat	blood
15	chr2:36784800-36799200	Weak transcription	Primary T helper cells fromperipheralblood	blood
16	chr2:36785200-36800600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr2:36786400-36794800	Strong transcription	Primary B cells from cord blood	blood
18	chr2:36787200-36797600	Weak transcription	Fetal Lung	lung
19	chr2:36788600-36805200	Weak transcription	Left Ventricle	heart
20	chr2:36789000-36804800	Weak transcription	Fetal Kidney	kidney
21	chr2:36789200-36803800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr2:36789200-36807000	Weak transcription	Aorta	Aorta
23	chr2:36789800-36795600	Weak transcription	Colon Smooth Muscle	Colon
24	chr2:36790200-36798000	Genic enhancers	HSMM	muscle
25	chr2:36790200-36818000	Strong transcription	Fetal Intestine Large	intestine
26	chr2:36790400-36794400	Strong transcription	Fetal Stomach	stomach
27	chr2:36790400-36795600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr2:36790400-36806600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr2:36790600-36794400	Strong transcription	Duodenum Mucosa	Duodenum
30	chr2:36790600-36794600	Genic enhancers	Muscle Satellite Cultured Cells	--
31	chr2:36790600-36795600	Weak transcription	Stomach Mucosa	stomach
32	chr2:36790800-36794600	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr2:36790800-36795600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr2:36790800-36796000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr2:36790800-36800200	Weak transcription	Liver	Liver
36	chr2:36790800-36812000	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr2:36791000-36794400	Strong transcription	Fetal Muscle Leg	muscle
38	chr2:36791000-36795000	Genic enhancers	A549	lung
39	chr2:36791000-36807600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr2:36791200-36795200	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr2:36791200-36795600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr2:36791200-36795600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr2:36791200-36804400	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr2:36791200-36805400	Weak transcription	Small Intestine	intestine
45	chr2:36791400-36795800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr2:36791600-36794400	Strong transcription	Rectal Mucosa Donor 29	rectum
47	chr2:36791600-36794400	Strong transcription	Rectal Mucosa Donor 31	rectum
48	chr2:36791600-36794800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr2:36791600-36796000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr2:36791800-36794400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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