Variant report

Variant	rs7570763
Chromosome Location	chr2:36800589-36800590
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:36800441..36802111-chr2:36804795..36806915,2	MCF-7	breast:
2	chr2:36799966..36801997-chr2:36823799..36825812,2	K562	blood:

Variant related genes	Relation type
ENSG00000171055	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs1110127	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1179494	0.96[CEU][hapmap];0.89[TSI][hapmap];0.90[EUR][1000 genomes]
rs11886145	0.95[ASN][1000 genomes]
rs11894187	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11899523	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13000354	0.82[EUR][1000 genomes]
rs13013664	0.89[ASN][1000 genomes]
rs2276671	0.92[CHB][hapmap];1.00[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.97[TSI][hapmap];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3770793	0.83[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs3770796	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3770818	0.84[CEU][hapmap];0.92[CHB][hapmap];0.92[JPT][hapmap];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3821150	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6729495	0.83[ASN][1000 genomes]
rs848596	0.83[CHB][hapmap];0.83[CHD][hapmap];0.85[JPT][hapmap];0.84[ASN][1000 genomes]
rs848597	0.83[CHB][hapmap];0.83[CHD][hapmap];0.85[JPT][hapmap];0.83[ASN][1000 genomes]
rs848598	0.83[ASN][1000 genomes]
rs848600	0.83[CHB][hapmap];0.85[JPT][hapmap]
rs848601	0.81[ASN][1000 genomes]
rs848610	0.85[ASN][1000 genomes]
rs848617	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs848619	1.00[CHB][hapmap];0.83[CHD][hapmap];0.85[JPT][hapmap];0.89[ASN][1000 genomes]
rs848622	0.83[CHB][hapmap];0.83[CHD][hapmap];0.85[JPT][hapmap];0.84[ASN][1000 genomes]
rs848623	0.84[ASN][1000 genomes]
rs848624	0.89[ASN][1000 genomes]
rs848627	0.82[ASN][1000 genomes]
rs848630	0.89[ASN][1000 genomes]
rs848631	0.86[ASN][1000 genomes]
rs848635	1.00[CHB][hapmap];0.85[JPT][hapmap];0.84[ASN][1000 genomes]
rs848636	1.00[CHB][hapmap];0.85[JPT][hapmap];0.86[ASN][1000 genomes]
rs848638	1.00[CHB][hapmap];0.83[CHD][hapmap];0.85[JPT][hapmap];0.88[ASN][1000 genomes]
rs848639	0.88[ASN][1000 genomes]
rs848640	0.86[ASN][1000 genomes]
rs848642	0.88[CEU][hapmap];0.89[TSI][hapmap];0.83[EUR][1000 genomes]
rs848643	0.88[CEU][hapmap];0.83[TSI][hapmap];0.86[EUR][1000 genomes]
rs861919	0.83[CHB][hapmap];0.85[JPT][hapmap];0.81[ASN][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:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7570763	FEZ2	cis	cerebellum	SCAN
rs7570763	FEZ2	cis	multi-tissue	Pritchard
rs7570763	CRIM1	cis	cerebellum	SCAN

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	chr2:36779400-36805000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr2:36780000-36804800	Weak transcription	Brain Germinal Matrix	brain
8	chr2:36782000-36805400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr2:36783000-36800600	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chr2:36783200-36805000	Weak transcription	K562	blood
11	chr2:36783400-36805000	Weak transcription	GM12878-XiMat	blood
12	chr2:36785200-36800600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr2:36788600-36805200	Weak transcription	Left Ventricle	heart
14	chr2:36789000-36804800	Weak transcription	Fetal Kidney	kidney
15	chr2:36789200-36803800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr2:36789200-36807000	Weak transcription	Aorta	Aorta
17	chr2:36790200-36818000	Strong transcription	Fetal Intestine Large	intestine
18	chr2:36790400-36806600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr2:36790800-36812000	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr2:36791000-36807600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr2:36791200-36804400	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr2:36791200-36805400	Weak transcription	Small Intestine	intestine
23	chr2:36791800-36801800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr2:36791800-36810400	Weak transcription	Right Atrium	heart
25	chr2:36792000-36806600	Weak transcription	Spleen	Spleen
26	chr2:36792200-36801800	Weak transcription	Brain Anterior Caudate	brain
27	chr2:36792200-36810400	Weak transcription	Colonic Mucosa	Colon
28	chr2:36792200-36824200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr2:36792800-36811400	Strong transcription	Primary monocytes fromperipheralblood	blood
30	chr2:36793000-36801800	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr2:36793000-36803200	Weak transcription	Primary T cells fromperipheralblood	blood
32	chr2:36793000-36806000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr2:36793200-36801800	Weak transcription	Psoas Muscle	Psoas
34	chr2:36793200-36804600	Weak transcription	Right Ventricle	heart
35	chr2:36793200-36806600	Weak transcription	Esophagus	oesophagus
36	chr2:36793200-36811200	Weak transcription	Pancreas	Pancrea
37	chr2:36793200-36816600	Strong transcription	Monocytes-CD14+_RO01746	blood
38	chr2:36793400-36804800	Weak transcription	Stomach Smooth Muscle	stomach
39	chr2:36793800-36801200	Weak transcription	Fetal Muscle Trunk	muscle
40	chr2:36794400-36802000	Weak transcription	Fetal Stomach	stomach
41	chr2:36795800-36809600	Weak transcription	Pancreatic Islets	Pancreatic Islet
42	chr2:36796000-36801800	Weak transcription	Fetal Thymus	thymus
43	chr2:36796000-36805000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr2:36796000-36818000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr2:36796200-36803800	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr2:36796200-36805400	Weak transcription	Thymus	Thymus
47	chr2:36796200-36807400	Weak transcription	Ovary	ovary
48	chr2:36796800-36802000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr2:36796800-36802200	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr2:36796800-36818200	Weak transcription	Brain Substantia Nigra	brain

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