Variant report

Variant	rs9462475
Chromosome Location	chr6:39070977-39070978
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	chr6:38997353..38997907-chr6:39070876..39071609,2	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs41273118	0.98[ASN][1000 genomes]
rs4254984	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7696	0.96[ASN][1000 genomes]
rs9296291	0.95[ASN][1000 genomes]
rs9296292	0.80[EUR][1000 genomes]
rs9462473	0.95[ASN][1000 genomes]
rs9462476	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028088	chr6:38821047-39163549	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv538205	chr6:38821047-39163549	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	esv2761050	chr6:39066867-39072034	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	esv3472497	chr6:39068376-39073004	Strong transcription Weak transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	esv3472498	chr6:39068422-39072935	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	esv3472499	chr6:39068422-39072935	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv514357	chr6:39068898-39072054	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv441994	chr6:39068912-39072032	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	esv2422109	chr6:39068912-39072681	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	esv12858	chr6:39068929-39072849	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	nsv516974	chr6:39069268-39072034	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	esv3692894	chr6:39069268-39072681	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:39021200-39072000	Weak transcription	Gastric	stomach
2	chr6:39027400-39073000	Weak transcription	Pancreas	Pancrea
3	chr6:39043400-39082000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr6:39053000-39072400	Weak transcription	Brain Germinal Matrix	brain
5	chr6:39058400-39071200	Weak transcription	Psoas Muscle	Psoas
6	chr6:39058400-39072000	Weak transcription	Left Ventricle	heart
7	chr6:39058400-39072600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr6:39058400-39073000	Weak transcription	Lung	lung
9	chr6:39060400-39073200	Weak transcription	Fetal Heart	heart
10	chr6:39060600-39072800	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr6:39062000-39072000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr6:39062600-39072200	Weak transcription	Small Intestine	intestine
13	chr6:39063800-39072200	Weak transcription	Liver	Liver
14	chr6:39063800-39076400	Weak transcription	HepG2	liver
15	chr6:39064800-39076800	Weak transcription	Aorta	Aorta
16	chr6:39065000-39072400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr6:39065200-39071200	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr6:39066400-39072000	Weak transcription	Right Ventricle	heart
19	chr6:39066800-39077200	Weak transcription	Brain Anterior Caudate	brain
20	chr6:39067600-39071800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr6:39067600-39073000	Enhancers	Fetal Lung	lung
22	chr6:39068200-39082000	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr6:39068400-39075600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr6:39068600-39071800	Weak transcription	Fetal Thymus	thymus
25	chr6:39068600-39072200	Weak transcription	Primary T helper cells fromperipheralblood	blood
26	chr6:39068600-39072400	Weak transcription	Primary hematopoietic stem cells	blood
27	chr6:39068600-39073000	Weak transcription	Primary T helper cells PMA-I stimulated	--
28	chr6:39068600-39073000	Weak transcription	Colonic Mucosa	Colon
29	chr6:39068600-39077200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr6:39068600-39078400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr6:39068800-39071800	Weak transcription	Duodenum Mucosa	Duodenum
32	chr6:39068800-39077800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr6:39068800-39078200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
34	chr6:39069000-39071000	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr6:39069000-39072800	Weak transcription	Primary monocytes fromperipheralblood	blood
36	chr6:39069200-39071000	Weak transcription	Primary T cells from cord blood	blood
37	chr6:39069200-39071200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr6:39069200-39071400	Weak transcription	Brain Hippocampus Middle	brain
39	chr6:39069200-39072400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr6:39069200-39072600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr6:39069200-39076800	Weak transcription	Spleen	Spleen
42	chr6:39069400-39072000	Weak transcription	Adipose Nuclei	Adipose
43	chr6:39069400-39072400	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr6:39069400-39076800	Weak transcription	HSMMtube	muscle
45	chr6:39069400-39077600	Weak transcription	HMEC	breast
46	chr6:39069600-39071000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr6:39069600-39071400	Enhancers	Fetal Brain Male	brain
48	chr6:39069600-39071800	Weak transcription	Fetal Brain Female	brain
49	chr6:39069600-39072000	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr6:39069600-39073000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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