Variant report

Variant	rs9446272
Chromosome Location	chr6:71301248-71301249
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	chr6:71300001..71302323-chr6:71529917..71532229,2	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10945236	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs1140297	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12198920	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12205103	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12215765	0.80[AMR][1000 genomes]
rs13199529	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13213357	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13437371	0.82[AFR][1000 genomes];0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs13654	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs1917344	0.84[ASN][1000 genomes]
rs2347427	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2691505	0.83[ASN][1000 genomes]
rs34378057	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs3763251	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs6925112	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs6925839	0.83[AFR][1000 genomes];0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs7341224	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7739098	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7756652	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs9446271	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9446273	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9446274	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs9446275	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs9455173	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9455179	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs9455180	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs9455185	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs9455186	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932111	chr6:70736835-71633094	Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv1027049	chr6:70961610-71561488	Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv524328	chr6:70961833-71558805	Flanking Bivalent TSS/Enh Active TSS Weak transcription Strong transcription ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv917312	chr6:70961903-71601688	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
5	nsv886145	chr6:71119524-71317480	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
6	nsv886146	chr6:71219464-71317480	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
7	nsv886147	chr6:71273253-71471863	Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking 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	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9446272	C6orf57	cis	Thyroid	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:71277200-71303200	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr6:71277200-71310600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr6:71277400-71301800	Weak transcription	HSMMtube	muscle
4	chr6:71277400-71302000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr6:71277400-71302200	Weak transcription	Rectal Smooth Muscle	rectum
6	chr6:71277400-71302800	Weak transcription	Thymus	Thymus
7	chr6:71277800-71301800	Weak transcription	HepG2	liver
8	chr6:71277800-71301800	Weak transcription	NHEK	skin
9	chr6:71278000-71305200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr6:71278200-71308800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr6:71278600-71308800	Weak transcription	Dnd41	blood
12	chr6:71286000-71303200	Weak transcription	Psoas Muscle	Psoas
13	chr6:71286000-71304800	Weak transcription	Gastric	stomach
14	chr6:71286200-71310600	Weak transcription	Right Ventricle	heart
15	chr6:71286800-71301600	Weak transcription	Lung	lung
16	chr6:71288400-71301600	Weak transcription	Fetal Heart	heart
17	chr6:71288400-71309800	Weak transcription	Spleen	Spleen
18	chr6:71289200-71301800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr6:71289400-71302600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr6:71289800-71310200	Weak transcription	Colonic Mucosa	Colon
21	chr6:71291400-71307800	Weak transcription	Brain Cingulate Gyrus	brain
22	chr6:71291600-71301800	Weak transcription	Brain Substantia Nigra	brain
23	chr6:71291600-71304800	Weak transcription	Brain Angular Gyrus	brain
24	chr6:71291600-71310000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr6:71291800-71302200	Weak transcription	Osteobl	bone
26	chr6:71291800-71302800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr6:71292000-71302800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr6:71292400-71302400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr6:71292400-71304600	Weak transcription	Brain Germinal Matrix	brain
30	chr6:71292600-71305800	Weak transcription	Primary T helper cells PMA-I stimulated	--
31	chr6:71292600-71310000	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr6:71293000-71302200	Weak transcription	Fetal Lung	lung
33	chr6:71293800-71302600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr6:71295000-71304400	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr6:71295400-71302200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr6:71295400-71302400	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr6:71295400-71305000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr6:71295400-71308800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr6:71295400-71314000	Weak transcription	Aorta	Aorta
40	chr6:71295800-71301800	Weak transcription	Left Ventricle	heart
41	chr6:71295800-71306200	Weak transcription	Primary T helper cells fromperipheralblood	blood
42	chr6:71295800-71307200	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr6:71295800-71309000	Weak transcription	Primary T cells fromperipheralblood	blood
44	chr6:71296000-71302200	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr6:71296000-71302400	Weak transcription	Duodenum Mucosa	Duodenum
46	chr6:71296000-71303000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr6:71296000-71303200	Weak transcription	Fetal Brain Female	brain
48	chr6:71296200-71303200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr6:71296200-71303800	Weak transcription	Fetal Intestine Large	intestine
50	chr6:71296200-71304400	Weak transcription	Primary hematopoietic stem cells	blood

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