Variant report

Variant	rs520296
Chromosome Location	chr6:106739416-106739417
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	chr6:106738772..106740659-chr6:106743750..106745285,2	K562	blood:

Extended variants
information (count: 43 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12110796	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12664702	0.93[CHB][hapmap];0.81[JPT][hapmap];1.00[YRI][hapmap];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2299861	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2791119	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs478310	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs501804	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs511472	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs538557	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs57050291	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs59800435	0.83[EUR][1000 genomes]
rs600076	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs605457	1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs627484	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs632686	1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs656994	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs672070	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs676090	0.83[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs676640	0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs710088	0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs710089	0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs710090	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs710091	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9372119	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9373838	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9373840	0.93[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9386521	0.90[ASN][1000 genomes]
rs9398076	0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9398077	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932155	chr6:106281728-107030467	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv1025900	chr6:106529777-106898421	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv1018270	chr6:106531658-106908606	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	nsv538399	chr6:106531658-106908606	Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv1035110	chr6:106557281-106802212	Enhancers Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	nsv538400	chr6:106557281-106802212	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
7	nsv1022855	chr6:106570926-106802072	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
8	nsv538401	chr6:106570926-106802072	Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
9	nsv532047	chr6:106591482-107143252	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
10	nsv1025963	chr6:106593639-106848778	Strong transcription Bivalent Enhancer Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
11	nsv1020047	chr6:106597828-106912047	Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
12	nsv970664	chr6:106635267-106887670	Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
13	nsv1030367	chr6:106667748-106802072	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
14	nsv538403	chr6:106667748-106802072	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
15	nsv870375	chr6:106696090-107047892	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:106695800-106740800	Weak transcription	Brain Cingulate Gyrus	brain
2	chr6:106699200-106767400	Weak transcription	Stomach Mucosa	stomach
3	chr6:106706200-106739600	Weak transcription	Hela-S3	cervix
4	chr6:106711600-106739800	Weak transcription	Fetal Stomach	stomach
5	chr6:106711600-106739800	Weak transcription	Thymus	Thymus
6	chr6:106711600-106762800	Weak transcription	Pancreas	Pancrea
7	chr6:106711600-106762800	Weak transcription	Right Ventricle	heart
8	chr6:106712800-106739600	Weak transcription	Psoas Muscle	Psoas
9	chr6:106713600-106747800	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr6:106717400-106741800	Weak transcription	Colonic Mucosa	Colon
11	chr6:106718000-106771600	Weak transcription	Fetal Brain Female	brain
12	chr6:106720600-106739600	Weak transcription	Aorta	Aorta
13	chr6:106720600-106760400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr6:106722200-106739600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr6:106723000-106739600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr6:106723000-106771800	Weak transcription	Rectal Smooth Muscle	rectum
17	chr6:106727200-106739600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr6:106727400-106739800	Weak transcription	Fetal Muscle Trunk	muscle
19	chr6:106727400-106742000	Weak transcription	Brain Anterior Caudate	brain
20	chr6:106727400-106762200	Weak transcription	Ovary	ovary
21	chr6:106727600-106760800	Weak transcription	Brain Hippocampus Middle	brain
22	chr6:106731600-106745600	Weak transcription	Fetal Intestine Small	intestine
23	chr6:106734800-106762800	Weak transcription	Gastric	stomach
24	chr6:106734800-106771800	Weak transcription	Esophagus	oesophagus
25	chr6:106735200-106739600	Weak transcription	Fetal Kidney	kidney
26	chr6:106735200-106773000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr6:106735400-106739600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr6:106735400-106739800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr6:106735400-106742400	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr6:106735600-106739600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr6:106737000-106741400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr6:106737400-106739600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr6:106737800-106739600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr6:106738200-106740200	Strong transcription	Sigmoid Colon	Sigmoid Colon
35	chr6:106738200-106740400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr6:106738200-106740600	Strong transcription	Fetal Intestine Large	intestine
37	chr6:106738200-106741200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr6:106738200-106741400	Strong transcription	Placenta	Placenta
39	chr6:106738200-106761400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
40	chr6:106738400-106739600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr6:106738400-106740000	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr6:106738400-106740000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
43	chr6:106738400-106740200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
44	chr6:106738400-106740400	Strong transcription	Primary T cells from cord blood	blood
45	chr6:106738400-106740400	ZNF genes & repeats	HMEC	breast
46	chr6:106738400-106740400	Strong transcription	Osteobl	bone
47	chr6:106738400-106740600	Strong transcription	Muscle Satellite Cultured Cells	--
48	chr6:106738400-106740800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
49	chr6:106738400-106741000	Strong transcription	HUES64 Cell Line	embryonic stem cell
50	chr6:106738400-106741000	Strong transcription	Primary B cells from peripheral blood	blood

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