Variant report

Variant	rs9386239
Chromosome Location	chr6:149206591-149206592
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11965023	0.90[ASN][1000 genomes]
rs12661836	0.85[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs1384670	0.94[CEU][hapmap];0.82[CHD][hapmap];0.82[MEX][hapmap];0.86[TSI][hapmap];0.90[EUR][1000 genomes]
rs4897066	0.91[JPT][hapmap]
rs62426095	0.81[EUR][1000 genomes]
rs6912012	0.86[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs9498175	0.95[JPT][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1032690	chr6:149206106-149398712	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs9386239	C6orf103	cis	parietal	SCAN
rs9386239	EPM2A	cis	cerebellum	SCAN
rs9386239	UST	cis	cerebellum	SCAN

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:149191200-149207600	Weak transcription	Primary B cells from cord blood	blood
2	chr6:149193200-149218800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr6:149195200-149210200	Weak transcription	Right Ventricle	heart
4	chr6:149196200-149208600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr6:149196400-149209800	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr6:149199400-149215600	Weak transcription	Spleen	Spleen
7	chr6:149200800-149208400	Weak transcription	Ovary	ovary
8	chr6:149201000-149210200	Weak transcription	Aorta	Aorta
9	chr6:149203200-149209600	Weak transcription	Fetal Heart	heart
10	chr6:149203400-149210200	Weak transcription	Fetal Thymus	thymus
11	chr6:149203400-149213400	Weak transcription	Dnd41	blood
12	chr6:149203800-149208200	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr6:149204000-149207800	Enhancers	H1 Cell Line	embryonic stem cell
14	chr6:149204600-149210800	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr6:149204800-149207800	Enhancers	Primary hematopoietic stem cells	blood
16	chr6:149204800-149207800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr6:149204800-149210400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr6:149205200-149207600	Enhancers	H9 Cell Line	embryonic stem cell
19	chr6:149205200-149208000	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr6:149205200-149208000	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr6:149205400-149207000	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr6:149205400-149207600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr6:149205400-149208200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr6:149205400-149208400	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr6:149205400-149211200	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr6:149205600-149206800	Enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr6:149205600-149207000	Enhancers	Colon Smooth Muscle	Colon
28	chr6:149205600-149207400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr6:149205600-149208000	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr6:149205600-149208200	Weak transcription	Brain Substantia Nigra	brain
31	chr6:149205600-149208400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr6:149205600-149209400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr6:149205600-149209600	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr6:149205800-149206800	Enhancers	HMEC	breast
35	chr6:149205800-149207000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr6:149205800-149207200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr6:149205800-149207600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr6:149205800-149208600	Enhancers	NH-A	brain
39	chr6:149205800-149208800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr6:149205800-149209000	Enhancers	Osteobl	bone
41	chr6:149205800-149209400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr6:149206000-149206600	Enhancers	Fetal Brain Male	brain
43	chr6:149206000-149206800	Enhancers	NHEK	skin
44	chr6:149206000-149207800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr6:149206000-149208000	Enhancers	NHLF	lung
46	chr6:149206000-149210800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr6:149206000-149212600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr6:149206200-149206800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr6:149206200-149207200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr6:149206200-149207400	Enhancers	Fetal Brain Female	brain

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