Variant report

Variant	rs7775421
Chromosome Location	chr6:119591779-119591780
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CBX3	chr6:119591599-119592137	K562	blood:	n/a	n/a
2	TRIM28	chr6:119591713-119592105	K562	blood:	n/a	n/a
3	KAP1	chr6:119591701-119592166	HEK293	kidney:	n/a	n/a
4	SETDB1	chr6:119590937-119592425	K562	blood:	n/a	n/a
5	KAP1	chr6:119591440-119592210	K562	blood:	n/a	n/a
6	SETDB1	chr6:119591647-119592286	U2OS	brain:	n/a	n/a
7	CBX3	chr6:119591597-119592109	K562	blood:	n/a	n/a
8	POLR2A	chr6:119591589-119591887	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:119590898..119593723-chr6:119598543..119602207,4	K562	blood:
2	chr6:119590898..119592984-chr6:119600707..119602898,2	K562	blood:

Variant related genes	Relation type
ENSG00000216316	TF binding region

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs1005506	0.80[JPT][hapmap]
rs1076656	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1104741	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11153802	0.83[EUR][1000 genomes]
rs11962211	0.82[CEU][hapmap];0.95[GIH][hapmap];0.96[MEX][hapmap];0.82[TSI][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12211868	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1408491	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1408492	0.83[EUR][1000 genomes]
rs1408493	0.83[EUR][1000 genomes]
rs1555684	0.81[CHB][hapmap]
rs171843	0.80[ASN][1000 genomes]
rs195047	0.85[ASN][1000 genomes]
rs195049	0.86[ASN][1000 genomes]
rs195053	0.93[CHB][hapmap];0.80[JPT][hapmap];0.83[ASN][1000 genomes]
rs195054	0.93[CHB][hapmap];0.80[JPT][hapmap];0.82[ASN][1000 genomes]
rs195055	0.82[ASN][1000 genomes]
rs195057	0.93[CHB][hapmap];0.80[JPT][hapmap];0.81[ASN][1000 genomes]
rs195060	0.93[CHB][hapmap];0.80[JPT][hapmap];0.80[ASN][1000 genomes]
rs195065	0.80[ASN][1000 genomes]
rs195067	0.91[CHB][hapmap]
rs195068	0.85[CHB][hapmap];0.80[ASN][1000 genomes]
rs195069	0.80[ASN][1000 genomes]
rs195070	0.93[CHB][hapmap];0.80[JPT][hapmap]
rs195071	0.85[CEU][hapmap];0.93[GIH][hapmap];0.98[TSI][hapmap];0.90[EUR][1000 genomes]
rs195073	0.80[ASN][1000 genomes]
rs195074	0.80[ASN][1000 genomes]
rs195077	0.93[CHB][hapmap];0.80[JPT][hapmap]
rs195078	0.88[CEU][hapmap];0.93[GIH][hapmap];0.92[MEX][hapmap];0.98[TSI][hapmap];0.86[EUR][1000 genomes]
rs195082	0.80[ASN][1000 genomes]
rs195084	0.80[ASN][1000 genomes]
rs195093	0.86[ASN][1000 genomes]
rs2142885	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2295203	0.80[JPT][hapmap]
rs2299881	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2299884	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2357162	0.90[ASN][1000 genomes]
rs2357375	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3778110	0.87[CHB][hapmap];0.80[JPT][hapmap]
rs3822997	0.89[ASN][1000 genomes]
rs4945633	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4945634	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6569060	1.00[CEU][hapmap];0.87[CHB][hapmap];0.80[JPT][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6569061	1.00[CEU][hapmap];0.87[CHB][hapmap];0.91[YRI][hapmap];0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6569062	0.93[CHB][hapmap];0.80[JPT][hapmap];0.83[ASN][1000 genomes]
rs6569063	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs66524742	0.87[ASN][1000 genomes]
rs6903155	0.82[ASN][1000 genomes]
rs6922115	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6922274	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6932066	0.86[ASN][1000 genomes]
rs6933961	0.81[CHB][hapmap]
rs7357047	0.90[ASN][1000 genomes]
rs9320684	0.82[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap]
rs9374786	0.80[JPT][hapmap]
rs9374789	0.80[JPT][hapmap]
rs9398506	0.87[CHB][hapmap];0.80[JPT][hapmap]
rs9401135	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9489624	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9489637	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9489650	0.86[ASN][1000 genomes]
rs9489654	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs980818	1.00[CEU][hapmap];0.85[CHB][hapmap];0.86[JPT][hapmap];0.96[YRI][hapmap];0.99[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs998194	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025995	chr6:119407742-119709548	Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv886570	chr6:119450888-119600556	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv1017507	chr6:119465981-119664949	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	esv3447598	chr6:119558591-120119384	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
5	esv3389526	chr6:119558598-120190087	ZNF genes & repeats Enhancers Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:119558800-119602000	Weak transcription	Gastric	stomach
2	chr6:119568600-119592600	Weak transcription	Primary monocytes fromperipheralblood	blood
3	chr6:119587200-119591800	Weak transcription	Primary B cells from peripheral blood	blood
4	chr6:119588200-119592000	Strong transcription	Liver	Liver
5	chr6:119589200-119598600	Weak transcription	Colon Smooth Muscle	Colon
6	chr6:119589200-119611000	Weak transcription	Rectal Smooth Muscle	rectum
7	chr6:119590600-119591800	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr6:119590600-119621800	Weak transcription	Placenta	Placenta
9	chr6:119590800-119591800	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr6:119590800-119591800	Weak transcription	Duodenum Mucosa	Duodenum
11	chr6:119590800-119591800	Weak transcription	Ovary	ovary
12	chr6:119590800-119617400	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr6:119590800-119626600	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr6:119591000-119591800	ZNF genes & repeats	Thymus	Thymus
15	chr6:119591000-119592000	Strong transcription	HepG2	liver
16	chr6:119591000-119599800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr6:119591000-119599800	Weak transcription	Lung	lung
18	chr6:119591000-119600600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr6:119591000-119624200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr6:119591200-119592000	ZNF genes & repeats	Fetal Thymus	thymus
21	chr6:119591200-119592400	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr6:119591200-119592400	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
23	chr6:119591200-119593600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr6:119591200-119602000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr6:119591200-119604600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr6:119591400-119592000	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
27	chr6:119591400-119592000	Strong transcription	Fetal Intestine Large	intestine
28	chr6:119591400-119592600	ZNF genes & repeats	Dnd41	blood
29	chr6:119591400-119601400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr6:119591600-119591800	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
31	chr6:119591600-119591800	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr6:119591600-119591800	ZNF genes & repeats	Fetal Kidney	kidney
33	chr6:119591600-119592000	ZNF genes & repeats	Left Ventricle	heart
34	chr6:119591600-119592000	ZNF genes & repeats	Stomach Smooth Muscle	stomach
35	chr6:119591600-119592200	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr6:119591600-119592200	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
37	chr6:119591600-119592200	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr6:119591600-119592200	ZNF genes & repeats	NHDF-Ad	bronchial
39	chr6:119591600-119592400	ZNF genes & repeats	Primary T cells from cord blood	blood
40	chr6:119591600-119592400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
41	chr6:119591600-119592400	ZNF genes & repeats	Adipose Nuclei	Adipose
42	chr6:119591600-119592400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
43	chr6:119591600-119592400	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
44	chr6:119591600-119592600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr6:119591600-119592600	ZNF genes & repeats	Primary B cells from cord blood	blood
46	chr6:119591600-119592600	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
47	chr6:119591600-119592600	ZNF genes & repeats	Fetal Lung	lung
48	chr6:119591600-119592600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
49	chr6:119591600-119592800	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
50	chr6:119591600-119593200	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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