Variant report

Variant	rs12211931
Chromosome Location	chr6:27463634-27463635
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:27444179..27448029-chr6:27462358..27468433,6	K562	blood:
2	chr6:27462160..27465243-chr6:27483150..27486620,3	K562	blood:
3	chr6:27262330..27264270-chr6:27461597..27464387,2	K562	blood:
4	chr6:27447854..27450536-chr6:27461434..27464293,2	K562	blood:
5	chr6:27457396..27459337-chr6:27460675..27465171,4	K562	blood:
6	chr6:27124395..27126679-chr6:27463309..27464874,2	K562	blood:
7	chr6:27461978..27464683-chr6:27744618..27746788,2	K562	blood:

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs10456051	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10456355	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs12189640	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12191649	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12192560	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs12193557	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12194341	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12194842	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12195783	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12196452	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12196970	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs12199685	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12199806	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12202956	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12204953	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12205044	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12209174	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12209905	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12212348	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12212389	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12212632	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12213471	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12213533	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12215289	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12215353	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12215386	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12215878	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12374607	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12374649	1.00[AMR][1000 genomes]
rs56099947	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs57075114	0.86[EUR][1000 genomes]
rs60888769	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62617138	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71546544	0.84[AMR][1000 genomes]
rs72839448	1.00[AFR][1000 genomes]
rs72839468	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs72839469	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs72839470	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs72839471	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72839474	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72839479	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72841397	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72841398	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72841399	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72841400	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72843151	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72843177	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72843191	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72845006	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72845008	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72845011	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72845012	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72845025	0.84[AMR][1000 genomes]
rs72845027	0.84[AMR][1000 genomes]
rs72845028	0.84[AMR][1000 genomes]
rs72845030	0.84[AMR][1000 genomes]
rs72845031	0.84[AMR][1000 genomes]
rs72845042	0.84[AMR][1000 genomes]
rs72845044	0.84[AMR][1000 genomes]
rs72845050	0.84[AMR][1000 genomes]
rs72845208	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72845232	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9348763	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs9368509	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9379975	0.86[AMR][1000 genomes]
rs9393814	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][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	nsv1022797	chr6:27396961-27864277	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	390 gene(s)	inside rSNPs	diseases
2	nsv830617	chr6:27424769-27598595	Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
3	nsv462665	chr6:27458013-27547792	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	nsv601203	chr6:27458013-27547792	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:27462400-27463800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
2	chr6:27462400-27464200	Active TSS	H1 Cell Line	embryonic stem cell
3	chr6:27462600-27463800	Active TSS	Muscle Satellite Cultured Cells	--
4	chr6:27462600-27463800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr6:27462600-27463800	Active TSS	Right Atrium	heart
6	chr6:27462600-27463800	Active TSS	Hela-S3	cervix
7	chr6:27462600-27464000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
8	chr6:27462600-27464000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr6:27462600-27464000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr6:27462600-27464000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr6:27462600-27464000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr6:27462600-27464000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
13	chr6:27462600-27464000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr6:27462600-27464000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr6:27462600-27464000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr6:27462600-27464000	Active TSS	NHDF-Ad	bronchial
17	chr6:27462600-27464000	Active TSS	NHLF	lung
18	chr6:27462600-27464000	Active TSS	Osteobl	bone
19	chr6:27462600-27464200	Active TSS	ES-I3 Cell Line	embryonic stem cell
20	chr6:27462600-27464200	Active TSS	H9 Cell Line	embryonic stem cell
21	chr6:27462600-27464200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr6:27462600-27464200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr6:27462800-27463800	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
24	chr6:27462800-27463800	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
25	chr6:27462800-27463800	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
26	chr6:27462800-27463800	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
27	chr6:27462800-27463800	Active TSS	Right Ventricle	heart
28	chr6:27462800-27463800	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
29	chr6:27462800-27463800	Active TSS	HSMM	muscle
30	chr6:27462800-27463800	Active TSS	HSMMtube	muscle
31	chr6:27462800-27463800	Active TSS	NH-A	brain
32	chr6:27462800-27464000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr6:27462800-27464000	Flanking Active TSS	Adipose Nuclei	Adipose
34	chr6:27462800-27464000	ZNF genes & repeats	Liver	Liver
35	chr6:27462800-27464200	Active TSS	HUES48 Cell Line	embryonic stem cell
36	chr6:27462800-27464600	Active TSS	A549	lung
37	chr6:27463000-27463800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr6:27463000-27463800	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
39	chr6:27463000-27463800	Bivalent/Poised TSS	Brain Angular Gyrus	brain
40	chr6:27463000-27463800	Bivalent/Poised TSS	Brain Anterior Caudate	brain
41	chr6:27463000-27463800	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
42	chr6:27463000-27463800	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
43	chr6:27463000-27463800	Bivalent/Poised TSS	Placenta	Placenta
44	chr6:27463000-27463800	Active TSS	Left Ventricle	heart
45	chr6:27463000-27464000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr6:27463000-27464000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr6:27463000-27464000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr6:27463000-27464000	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
49	chr6:27463000-27464000	Bivalent/Poised TSS	HepG2	liver
50	chr6:27463000-27464000	Active TSS	NHEK	skin

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