Variant report

Variant	rs6941514
Chromosome Location	chr6:119592128-119592129
allele	C/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	KAP1	chr6:119591701-119592166	HEK293	kidney:	n/a	n/a
3	SETDB1	chr6:119590937-119592425	K562	blood:	n/a	n/a
4	KAP1	chr6:119591440-119592210	K562	blood:	n/a	n/a
5	SETDB1	chr6:119591647-119592286	U2OS	brain:	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: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs17442217	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17442238	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17442343	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17442478	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17442505	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17514202	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17526989	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17527003	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17527153	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17536339	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17619366	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2038768	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28635805	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3798611	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs56320899	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56926474	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6569064	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6911026	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6926266	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6933973	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6941142	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73767443	0.84[AFR][1000 genomes]
rs73769010	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73769011	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73769020	0.81[AFR][1000 genomes]
rs73769050	0.81[AFR][1000 genomes]
rs7740521	1.00[EUR][1000 genomes]
rs7740969	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7743309	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7748940	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7757386	0.81[AFR][1000 genomes]
rs7763451	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7763610	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7767940	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9481896	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9481905	0.81[AFR][1000 genomes]
rs9489640	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9489641	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9489642	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9489643	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9489644	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9489646	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9489647	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9489648	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9489649	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9489651	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9489652	0.88[EUR][1000 genomes]
rs9489655	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9489657	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9489658	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9489659	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9489684	0.81[AFR][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:46 , 50 per page) page: 1

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	chr6:119589200-119598600	Weak transcription	Colon Smooth Muscle	Colon
4	chr6:119589200-119611000	Weak transcription	Rectal Smooth Muscle	rectum
5	chr6:119590600-119621800	Weak transcription	Placenta	Placenta
6	chr6:119590800-119617400	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr6:119590800-119626600	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr6:119591000-119599800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr6:119591000-119599800	Weak transcription	Lung	lung
10	chr6:119591000-119600600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr6:119591000-119624200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr6:119591200-119592400	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr6:119591200-119592400	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
14	chr6:119591200-119593600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr6:119591200-119602000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr6:119591200-119604600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr6:119591400-119592600	ZNF genes & repeats	Dnd41	blood
18	chr6:119591400-119601400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr6:119591600-119592200	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr6:119591600-119592200	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
21	chr6:119591600-119592200	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr6:119591600-119592200	ZNF genes & repeats	NHDF-Ad	bronchial
23	chr6:119591600-119592400	ZNF genes & repeats	Primary T cells from cord blood	blood
24	chr6:119591600-119592400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
25	chr6:119591600-119592400	ZNF genes & repeats	Adipose Nuclei	Adipose
26	chr6:119591600-119592400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
27	chr6:119591600-119592400	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
28	chr6:119591600-119592600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr6:119591600-119592600	ZNF genes & repeats	Primary B cells from cord blood	blood
30	chr6:119591600-119592600	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
31	chr6:119591600-119592600	ZNF genes & repeats	Fetal Lung	lung
32	chr6:119591600-119592600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
33	chr6:119591600-119592800	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
34	chr6:119591600-119593200	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr6:119591600-119593200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr6:119591600-119593600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr6:119591600-119593800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
38	chr6:119591600-119595200	ZNF genes & repeats	K562	blood
39	chr6:119591800-119592200	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
40	chr6:119591800-119592400	ZNF genes & repeats	Duodenum Mucosa	Duodenum
41	chr6:119591800-119597000	Weak transcription	Fetal Kidney	kidney
42	chr6:119592000-119592400	ZNF genes & repeats	Liver	Liver
43	chr6:119592000-119592400	ZNF genes & repeats	Fetal Intestine Large	intestine
44	chr6:119592000-119594200	ZNF genes & repeats	HepG2	liver
45	chr6:119592000-119602200	Weak transcription	Left Ventricle	heart
46	chr6:119592000-119604200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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