Variant report

Variant	rs981355
Chromosome Location	chr2:36770401-36770402
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:36769854..36772174-chr2:36774843..36776898,2	MCF-7	breast:
2	chr2:36763939..36768189-chr2:36769601..36773260,6	K562	blood:
3	chr2:36769080..36771978-chr2:36774034..36776648,2	K562	blood:
4	chr2:36762825..36765434-chr2:36770286..36772381,2	MCF-7	breast:

Extended variants
information (count: 42 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10084464	0.81[EUR][1000 genomes]
rs10175266	0.81[EUR][1000 genomes]
rs10178965	0.81[EUR][1000 genomes]
rs10179862	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10180760	1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[GIH][hapmap];0.95[MEX][hapmap];0.86[YRI][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10189344	0.84[TSI][hapmap];0.85[EUR][1000 genomes]
rs10194100	0.81[EUR][1000 genomes]
rs10197570	0.95[CHB][hapmap];0.97[CHD][hapmap];0.84[MEX][hapmap]
rs10210291	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1045543	0.83[CEU][hapmap];0.89[EUR][1000 genomes]
rs10469897	0.90[CHB][hapmap]
rs10469898	0.91[CHB][hapmap];0.89[CHD][hapmap];0.84[MEX][hapmap]
rs11686443	0.81[EUR][1000 genomes]
rs1179494	0.91[CHB][hapmap];0.89[CHD][hapmap]
rs12712507	0.86[CHB][hapmap]
rs12712508	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13406169	0.89[MEX][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs13406184	0.84[MEX][hapmap];0.81[EUR][1000 genomes]
rs1533946	0.95[CHB][hapmap];0.97[CHD][hapmap];0.95[MEX][hapmap];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1533947	0.86[AMR][1000 genomes]
rs1533948	1.00[CHB][hapmap];0.97[CHD][hapmap];0.95[MEX][hapmap];0.86[YRI][hapmap];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17019087	0.95[CHB][hapmap];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2022211	0.95[CHB][hapmap];0.97[CHD][hapmap];0.82[GIH][hapmap]
rs2072534	0.95[CHB][hapmap];0.97[CHD][hapmap];0.80[GIH][hapmap];0.84[MEX][hapmap]
rs2072535	0.90[CHB][hapmap];0.92[CHD][hapmap];0.90[MEX][hapmap]
rs2075226	0.95[CHB][hapmap];0.94[CHD][hapmap];0.85[GIH][hapmap]
rs2110987	0.80[EUR][1000 genomes]
rs2160403	0.81[EUR][1000 genomes]
rs2160404	1.00[CHB][hapmap];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34425257	1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[GIH][hapmap];0.90[MEX][hapmap];0.87[AMR][1000 genomes]
rs3755196	0.85[EUR][1000 genomes]
rs3770797	0.95[CHB][hapmap];0.80[AMR][1000 genomes];0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3770809	0.95[CHB][hapmap];0.86[YRI][hapmap];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs3770811	1.00[CHB][hapmap];0.97[CHD][hapmap];0.95[MEX][hapmap];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs848603	1.00[CHB][hapmap];0.85[ASN][1000 genomes]
rs848605	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs848606	0.95[CHB][hapmap];0.91[JPT][hapmap];0.92[ASN][1000 genomes]
rs848607	1.00[CHB][hapmap];0.92[CHD][hapmap];0.91[JPT][hapmap];0.93[ASN][1000 genomes]
rs848617	0.89[CHB][hapmap]
rs848643	1.00[CHB][hapmap];0.89[CHD][hapmap]

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:7)

SNP	Gene	Cis/trans	Tissue	Source
rs981355	FEZ2	cis	multi-tissue	Pritchard
rs981355	STRN	cis	cerebellum	SCAN
rs981355	CRIM1	cis	cerebellum	SCAN
rs981355	FEZ2	cis	cerebellum	SCAN
rs981355	FAM82A1	cis	cerebellum	SCAN
rs981355	FEZ2	cis	parietal	SCAN
rs981355	FEZ2	cis	lymphoblastoid	seeQTL

Chromatin state (count:115 , 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	chr2:36733200-36774200	Weak transcription	Fetal Thymus	thymus
4	chr2:36739000-36778200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr2:36747800-36774200	Weak transcription	Liver	Liver
6	chr2:36750800-36783200	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr2:36751000-36824200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:36751200-36774200	Weak transcription	Psoas Muscle	Psoas
9	chr2:36752000-36776000	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chr2:36753800-36782600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
11	chr2:36758000-36778400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr2:36758200-36771000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr2:36758400-36774200	Weak transcription	Primary B cells from peripheral blood	blood
14	chr2:36758400-36779200	Weak transcription	Brain Angular Gyrus	brain
15	chr2:36758600-36770600	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chr2:36760000-36782000	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr2:36762400-36783200	Strong transcription	HUES64 Cell Line	embryonic stem cell
18	chr2:36762800-36783800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr2:36763000-36778600	Genic enhancers	HUVEC	blood vessel
20	chr2:36763200-36773000	Strong transcription	HSMMtube	muscle
21	chr2:36763200-36784200	Strong transcription	HepG2	liver
22	chr2:36763200-36785200	Strong transcription	Rectal Mucosa Donor 29	rectum
23	chr2:36763600-36779200	Strong transcription	Primary B cells from cord blood	blood
24	chr2:36763600-36779800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
25	chr2:36763800-36773000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr2:36764000-36774600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr2:36764000-36790200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr2:36764200-36783400	Strong transcription	HUES6 Cell Line	embryonic stem cell
29	chr2:36764200-36783800	Strong transcription	Fetal Intestine Large	intestine
30	chr2:36764400-36773600	Strong transcription	Sigmoid Colon	Sigmoid Colon
31	chr2:36764400-36787200	Strong transcription	Rectal Mucosa Donor 31	rectum
32	chr2:36764800-36774600	Weak transcription	Brain Cingulate Gyrus	brain
33	chr2:36764800-36791800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr2:36765000-36771000	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr2:36765000-36774600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr2:36765000-36778400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr2:36765200-36773400	Genic enhancers	Osteobl	bone
38	chr2:36765400-36775400	Weak transcription	Rectal Smooth Muscle	rectum
39	chr2:36765600-36776400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr2:36765600-36778800	Weak transcription	Gastric	stomach
41	chr2:36765800-36776200	Weak transcription	Brain Substantia Nigra	brain
42	chr2:36766000-36791800	Weak transcription	Esophagus	oesophagus
43	chr2:36766400-36772000	Weak transcription	Primary T cells fromperipheralblood	blood
44	chr2:36766400-36788600	Weak transcription	Fetal Brain Male	brain
45	chr2:36766600-36774600	Weak transcription	Pancreas	Pancrea
46	chr2:36766600-36781800	Weak transcription	K562	blood
47	chr2:36766800-36777400	Strong transcription	NHEK	skin
48	chr2:36766800-36782800	Strong transcription	HMEC	breast
49	chr2:36766800-36783200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr2:36766800-36783400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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