Variant report

Variant	rs960710
Chromosome Location	chr6:144060958-144060959
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	chr6:144059361..144061589-chr6:144086524..144088312,2	K562	blood:
2	chr6:144060296..144062270-chr6:144062738..144065749,3	MCF-7	breast:

Extended variants
information (count: 11 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10080355	0.82[CHB][hapmap];0.90[CHD][hapmap]
rs12198422	0.84[ASN][1000 genomes]
rs12661297	0.82[CHB][hapmap];0.84[ASN][1000 genomes]
rs2328515	1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs55663530	0.90[ASN][1000 genomes]
rs55924741	0.90[ASN][1000 genomes]
rs6931825	0.82[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs9321939	0.86[MEX][hapmap]
rs9390132	0.93[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	esv2758084	chr6:143916621-144079976	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	esv2759476	chr6:143916621-144079976	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs960710	EPM2A	cis	parietal	SCAN

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:144022200-144063200	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr6:144022800-144064200	Weak transcription	NH-A	brain
3	chr6:144023800-144063600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr6:144031000-144062200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr6:144035000-144063600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr6:144038200-144063400	Weak transcription	HepG2	liver
7	chr6:144038600-144075400	Weak transcription	NHEK	skin
8	chr6:144042000-144063400	Weak transcription	Lung	lung
9	chr6:144046000-144064200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr6:144046200-144074600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr6:144047000-144063800	Weak transcription	Fetal Intestine Small	intestine
12	chr6:144047400-144065000	Weak transcription	Fetal Muscle Trunk	muscle
13	chr6:144047800-144064200	Weak transcription	Fetal Intestine Large	intestine
14	chr6:144048400-144063400	Weak transcription	NHDF-Ad	bronchial
15	chr6:144048400-144063600	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr6:144048400-144063800	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr6:144052200-144061200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr6:144053400-144076600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr6:144053600-144073600	Weak transcription	Osteobl	bone
20	chr6:144053600-144075400	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr6:144053600-144075600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr6:144053800-144079800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr6:144054800-144061000	Weak transcription	Right Atrium	heart
24	chr6:144055600-144063400	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr6:144055800-144063200	Weak transcription	Stomach Smooth Muscle	stomach
26	chr6:144056000-144063800	Weak transcription	Brain Hippocampus Middle	brain
27	chr6:144056000-144065600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr6:144056000-144067600	Weak transcription	K562	blood
29	chr6:144056200-144063400	Weak transcription	Fetal Heart	heart
30	chr6:144056200-144063800	Weak transcription	Fetal Kidney	kidney
31	chr6:144056200-144064800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr6:144056200-144080200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr6:144056800-144063400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr6:144056800-144063600	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr6:144056800-144065600	Weak transcription	HUVEC	blood vessel
36	chr6:144057000-144061800	Weak transcription	Monocytes-CD14+_RO01746	blood
37	chr6:144057000-144063600	Weak transcription	Fetal Lung	lung
38	chr6:144057400-144061200	Weak transcription	Adipose Nuclei	Adipose
39	chr6:144057400-144064200	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr6:144057600-144061200	Weak transcription	Primary monocytes fromperipheralblood	blood
41	chr6:144057600-144063400	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr6:144057600-144063400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr6:144057600-144063400	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr6:144057600-144063800	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr6:144058000-144063400	Weak transcription	Left Ventricle	heart
46	chr6:144058000-144064400	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr6:144058200-144063400	Weak transcription	Psoas Muscle	Psoas
48	chr6:144058800-144063400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr6:144059200-144064000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr6:144059800-144063600	Weak transcription	Aorta	Aorta

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