Variant report

Variant	rs7560321
Chromosome Location	chr2:36822318-36822319
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:36817392..36820041-chr2:36820581..36825790,5	MCF-7	breast:
2	chr2:36816372..36820679-chr2:36821932..36827532,8	K562	blood:

Variant related genes	Relation type
ENSG00000171055	Chromatin interaction
ENSG00000256845	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10205290	0.89[ASN][1000 genomes]
rs11545205	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11886145	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13000354	0.81[AMR][1000 genomes]
rs13013664	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1548894	0.95[CHB][hapmap];0.82[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2110985	0.93[ASN][1000 genomes]
rs2888372	0.90[ASN][1000 genomes]
rs3770785	0.95[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs4670151	0.88[ASN][1000 genomes]
rs6544014	0.89[ASN][1000 genomes]
rs6729495	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6756508	0.91[ASN][1000 genomes]
rs744917	0.95[CHB][hapmap];0.82[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs7577490	0.91[ASN][1000 genomes]
rs7580827	0.89[ASN][1000 genomes]
rs918066	0.87[ASN][1000 genomes]
rs918068	0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs9941555	1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs9967785	0.92[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
rs7560321	FEZ2	cis	cerebellum	SCAN
rs7560321	CRIM1	cis	cerebellum	SCAN
rs7560321	ATL2	cis	parietal	SCAN

Chromatin state (count:116 , 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	chr2:36792200-36824200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr2:36799200-36822600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr2:36802000-36823800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr2:36807600-36823600	Weak transcription	Spleen	Spleen
6	chr2:36808600-36823400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr2:36808600-36823800	Weak transcription	Fetal Kidney	kidney
8	chr2:36808800-36822400	Weak transcription	Stomach Mucosa	stomach
9	chr2:36808800-36823400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr2:36808800-36823400	Weak transcription	Small Intestine	intestine
11	chr2:36808800-36823600	Weak transcription	Aorta	Aorta
12	chr2:36809000-36823400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr2:36810600-36823000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr2:36811000-36822600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr2:36811400-36822600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr2:36811400-36822600	Weak transcription	Gastric	stomach
17	chr2:36811400-36823400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr2:36811400-36823600	Weak transcription	Right Ventricle	heart
19	chr2:36811800-36823600	Weak transcription	Pancreas	Pancrea
20	chr2:36812000-36823400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr2:36812200-36822600	Weak transcription	Brain Germinal Matrix	brain
22	chr2:36812200-36823200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr2:36812200-36823200	Weak transcription	Stomach Smooth Muscle	stomach
24	chr2:36812200-36823400	Weak transcription	Lung	lung
25	chr2:36812200-36824000	Weak transcription	HSMMtube	muscle
26	chr2:36813400-36823600	Weak transcription	Hela-S3	cervix
27	chr2:36814600-36823000	Weak transcription	Left Ventricle	heart
28	chr2:36814600-36823400	Weak transcription	Fetal Stomach	stomach
29	chr2:36815000-36822800	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr2:36815600-36823200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr2:36816600-36822400	Weak transcription	Fetal Brain Female	brain
32	chr2:36816800-36823200	Weak transcription	Right Atrium	heart
33	chr2:36816800-36823200	Weak transcription	NHLF	lung
34	chr2:36816800-36823600	Weak transcription	Fetal Heart	heart
35	chr2:36817200-36823200	Weak transcription	Primary T cells from cord blood	blood
36	chr2:36817400-36822600	Weak transcription	Primary T helper cells fromperipheralblood	blood
37	chr2:36817400-36823000	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr2:36817600-36822600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr2:36817600-36822800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr2:36817800-36823400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr2:36818000-36822600	Weak transcription	Primary T cells fromperipheralblood	blood
42	chr2:36818000-36822600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr2:36818000-36823000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr2:36818000-36823000	Weak transcription	Dnd41	blood
45	chr2:36818000-36823200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr2:36818000-36823200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr2:36818000-36823400	Weak transcription	Fetal Muscle Leg	muscle
48	chr2:36818000-36823600	Weak transcription	Fetal Muscle Trunk	muscle
49	chr2:36818000-36823800	Weak transcription	Fetal Thymus	thymus
50	chr2:36818000-36824200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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