Variant report

Variant	rs9321987
Chromosome Location	chr6:145030284-145030285
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11155372	0.94[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs11970600	0.94[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs13194956	0.85[ASN][1000 genomes]
rs4896737	0.89[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs6902144	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6902284	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6927033	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6931305	0.85[ASN][1000 genomes]
rs7768069	0.85[ASN][1000 genomes]
rs9390200	0.91[ASW][hapmap];1.00[LWK][hapmap];0.85[MKK][hapmap];1.00[YRI][hapmap]
rs9403579	0.86[AMR][1000 genomes]
rs9497053	0.94[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016747	chr6:144917411-145599874	Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv1032838	chr6:144978504-145110121	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv830833	chr6:145001310-145201143	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
4	nsv1021098	chr6:145017386-145106441	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9321987	EPM2A	cis	cerebellum	SCAN

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:144981200-145031000	Weak transcription	Placenta	Placenta
2	chr6:144996600-145052400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr6:145004400-145047000	Weak transcription	HSMMtube	muscle
4	chr6:145005000-145031000	Weak transcription	HUVEC	blood vessel
5	chr6:145009000-145047000	Weak transcription	Esophagus	oesophagus
6	chr6:145010600-145047000	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr6:145010800-145031000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr6:145010800-145031400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr6:145011000-145052600	Weak transcription	Ovary	ovary
10	chr6:145011200-145035200	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr6:145011800-145031000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr6:145011800-145065600	Weak transcription	Pancreas	Pancrea
13	chr6:145011800-145090200	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr6:145011800-145096600	Weak transcription	Thymus	Thymus
15	chr6:145012000-145036600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr6:145012000-145039200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr6:145012000-145047000	Weak transcription	Gastric	stomach
18	chr6:145012000-145055600	Weak transcription	Spleen	Spleen
19	chr6:145012400-145053000	Weak transcription	Fetal Stomach	stomach
20	chr6:145013800-145031200	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr6:145014200-145033600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr6:145014200-145047000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr6:145018200-145031000	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr6:145018200-145047200	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr6:145018200-145052400	Weak transcription	Duodenum Mucosa	Duodenum
26	chr6:145018400-145031200	Weak transcription	NHLF	lung
27	chr6:145018400-145069000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr6:145018600-145031000	Weak transcription	NHDF-Ad	bronchial
29	chr6:145018800-145033400	Weak transcription	Rectal Smooth Muscle	rectum
30	chr6:145018800-145041200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr6:145019000-145031200	Weak transcription	Osteobl	bone
32	chr6:145019000-145047000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr6:145019200-145032000	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr6:145019400-145036600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr6:145019400-145052600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr6:145019800-145031200	Weak transcription	NH-A	brain
37	chr6:145020200-145035400	Weak transcription	Fetal Lung	lung
38	chr6:145020800-145039400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr6:145021200-145031800	Strong transcription	Primary monocytes fromperipheralblood	blood
40	chr6:145021200-145032000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr6:145021200-145032000	Strong transcription	Monocytes-CD14+_RO01746	blood
42	chr6:145021400-145031400	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr6:145021800-145031200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr6:145021800-145032800	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr6:145022000-145041000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr6:145022000-145051400	Weak transcription	Fetal Muscle Trunk	muscle
47	chr6:145022200-145031600	Strong transcription	Primary B cells from peripheral blood	blood
48	chr6:145022200-145053000	Weak transcription	Fetal Intestine Small	intestine
49	chr6:145022800-145036600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr6:145023800-145033200	Weak transcription	HUES6 Cell Line	embryonic stem cell

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