Variant report

Variant	rs12203726
Chromosome Location	chr6:5499288-5499289
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs12193006	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12195596	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12197357	1.00[ASN][1000 genomes]
rs12199468	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12203435	1.00[ASN][1000 genomes]
rs12204218	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12204655	1.00[ASN][1000 genomes]
rs12206230	1.00[ASN][1000 genomes]
rs12209234	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12213022	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13196232	1.00[ASN][1000 genomes]
rs13202324	1.00[ASN][1000 genomes]
rs13209186	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17274714	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs34234636	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34669476	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34910355	1.00[ASN][1000 genomes]
rs35251058	1.00[ASN][1000 genomes]
rs35458062	1.00[ASN][1000 genomes]
rs35565840	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35940054	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62387165	1.00[ASN][1000 genomes]
rs9504426	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1019428	chr6:5216835-5627839	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv538118	chr6:5216835-5627839	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv883418	chr6:5307432-5501389	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1034607	chr6:5311590-5573514	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv538120	chr6:5311590-5573514	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv916361	chr6:5315853-5695486	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv1023027	chr6:5377308-5556749	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv538121	chr6:5377308-5556749	Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv600886	chr6:5426265-5511614	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv1017506	chr6:5443538-5551125	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:5449000-5499400	Weak transcription	Fetal Intestine Large	intestine
2	chr6:5461600-5507200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr6:5466400-5518200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr6:5466600-5506400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr6:5466800-5502200	Weak transcription	Gastric	stomach
6	chr6:5471800-5505800	Weak transcription	Primary B cells from peripheral blood	blood
7	chr6:5472400-5511600	Weak transcription	Fetal Stomach	stomach
8	chr6:5472600-5499400	Weak transcription	Spleen	Spleen
9	chr6:5472600-5501800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr6:5472600-5506200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr6:5481600-5499400	Weak transcription	Right Ventricle	heart
12	chr6:5481600-5499600	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr6:5481600-5500600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr6:5482000-5499600	Weak transcription	Brain Anterior Caudate	brain
15	chr6:5482200-5506600	Weak transcription	Primary hematopoietic stem cells	blood
16	chr6:5483400-5500600	Weak transcription	Pancreas	Pancrea
17	chr6:5485000-5500200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr6:5485200-5506400	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr6:5486000-5505400	Weak transcription	Primary T helper cells fromperipheralblood	blood
20	chr6:5486200-5506800	Weak transcription	Thymus	Thymus
21	chr6:5486400-5502800	Weak transcription	HepG2	liver
22	chr6:5487000-5499400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr6:5488000-5501800	Weak transcription	Liver	Liver
24	chr6:5488000-5510600	Weak transcription	Aorta	Aorta
25	chr6:5488200-5506200	Weak transcription	Primary T cells fromperipheralblood	blood
26	chr6:5488200-5506400	Weak transcription	Fetal Intestine Small	intestine
27	chr6:5488600-5506000	Weak transcription	Primary B cells from cord blood	blood
28	chr6:5488600-5521600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr6:5492200-5499800	Weak transcription	Primary T cells from cord blood	blood
30	chr6:5494200-5499400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr6:5494600-5500400	Weak transcription	Left Ventricle	heart
32	chr6:5495400-5502400	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr6:5495400-5505400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr6:5496000-5500200	Weak transcription	Fetal Brain Female	brain
35	chr6:5496200-5500000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr6:5496200-5502200	Weak transcription	Psoas Muscle	Psoas
37	chr6:5497800-5499400	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr6:5497800-5499600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr6:5498000-5499800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr6:5498000-5500400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
41	chr6:5498000-5500600	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr6:5498200-5500600	Enhancers	Skeletal Muscle Male	skeletal muscle
43	chr6:5498200-5500600	Enhancers	NHLF	lung
44	chr6:5498200-5502200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
45	chr6:5498400-5499400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr6:5498400-5502200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr6:5498400-5506200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr6:5498600-5499400	Weak transcription	Brain Germinal Matrix	brain
49	chr6:5498600-5499600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr6:5498600-5499800	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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