Variant report

Variant	rs3756815
Chromosome Location	chr6:24666194-24666195
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	STAT1	chr6:24666149-24667614	GM12878	blood:	n/a	n/a
2	JUN	chr6:24665793-24668258	K562	blood:	n/a	n/a
3	HCFC1	chr6:24665333-24668321	Hela-S3	cervix:	n/a	n/a
4	TBP	chr6:24665992-24667950	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr6:24666108-24668118	H1-hESC	embryonic stem cell:	n/a	n/a
6	RFX5	chr6:24666080-24668040	Hela-S3	cervix:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:24645863..24648986-chr6:24665821..24668897,5	MCF-7	breast:
2	chr6:24665480..24670247-chr6:24773496..24779775,9	K562	blood:
3	chr6:24666041..24667769-chr6:24719597..24721263,2	MCF-7	breast:
4	chr6:24494650..24496587-chr6:24665440..24668079,2	MCF-7	breast:
5	chr6:24494081..24496615-chr6:24665704..24668263,2	K562	blood:
6	chr6:24660920..24672880-chr6:24713381..24723000,42	K562	blood:
7	chr6:24665745..24668755-chr6:24718443..24722281,4	MCF-7	breast:
8	chr6:24661385..24670379-chr6:24713871..24722680,32	K562	blood:
9	chr6:24645218..24647641-chr6:24665331..24668427,5	MCF-7	breast:

No data

Variant related genes	Relation type
ACOT13	TF binding region
ENSG00000112293	Chromatin interaction
ENSG00000112312	Chromatin interaction
ENSG00000137261	Chromatin interaction
ENSG00000112308	Chromatin interaction
ENSG00000112294	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs16889592	0.87[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs16901739	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17249687	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1883591	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2056998	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2073013	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2294688	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2294689	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2294690	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2294691	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2328847	0.87[ASN][1000 genomes]
rs2876679	0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs3181230	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3181233	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3181235	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3181236	0.87[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs3181237	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3212228	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3212229	0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs3212234	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3212235	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60707509	0.82[ASN][1000 genomes]
rs7765052	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9358786	0.87[ASN][1000 genomes]
rs9358787	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9366579	0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs9379679	0.91[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs9379682	0.96[ASN][1000 genomes]
rs9393575	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9461050	0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs9467251	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9467253	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9467257	0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3508002	chr6:24618580-24732946	Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
2	esv3508003	chr6:24618580-24732946	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:24647000-24666400	Weak transcription	Esophagus	oesophagus
2	chr6:24653800-24666200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr6:24660600-24666200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr6:24662600-24666400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr6:24663000-24666200	Weak transcription	Pancreas	Pancrea
6	chr6:24663600-24666200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
7	chr6:24663800-24666200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
8	chr6:24664000-24666200	Weak transcription	Gastric	stomach
9	chr6:24664000-24666200	Weak transcription	Left Ventricle	heart
10	chr6:24664000-24666200	Weak transcription	Lung	lung
11	chr6:24664000-24666400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr6:24664000-24668600	Active TSS	Colonic Mucosa	Colon
13	chr6:24664400-24668000	Active TSS	Fetal Intestine Large	intestine
14	chr6:24664600-24668000	Active TSS	Fetal Intestine Small	intestine
15	chr6:24664800-24666800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
16	chr6:24665000-24666200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
17	chr6:24665000-24666400	Flanking Active TSS	Brain Germinal Matrix	brain
18	chr6:24665000-24666400	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
19	chr6:24665000-24666600	Flanking Active TSS	Duodenum Mucosa	Duodenum
20	chr6:24665000-24666800	Flanking Active TSS	Primary B cells from cord blood	blood
21	chr6:24665200-24666200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr6:24665200-24666200	Enhancers	Placenta Amnion	Placenta Amnion
23	chr6:24665200-24666200	Enhancers	Stomach Mucosa	stomach
24	chr6:24665200-24666400	Flanking Active TSS	Brain Angular Gyrus	brain
25	chr6:24665200-24666400	Flanking Active TSS	Brain Hippocampus Middle	brain
26	chr6:24665200-24666600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr6:24665400-24666200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
28	chr6:24665400-24666200	Flanking Active TSS	Fetal Brain Male	brain
29	chr6:24665400-24666200	Flanking Active TSS	Rectal Smooth Muscle	rectum
30	chr6:24665400-24666200	Flanking Active TSS	Hela-S3	cervix
31	chr6:24665400-24666400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr6:24665400-24666400	Flanking Active TSS	Brain Cingulate Gyrus	brain
33	chr6:24665400-24666400	Flanking Active TSS	Brain Substantia Nigra	brain
34	chr6:24665400-24666400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
35	chr6:24665400-24666600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
36	chr6:24665400-24666800	Flanking Active TSS	Liver	Liver
37	chr6:24665400-24667000	Flanking Active TSS	Adipose Nuclei	Adipose
38	chr6:24665400-24668000	Active TSS	Sigmoid Colon	Sigmoid Colon
39	chr6:24665400-24668200	Active TSS	Psoas Muscle	Psoas
40	chr6:24665400-24668200	Active TSS	NHDF-Ad	bronchial
41	chr6:24665600-24666200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
42	chr6:24665600-24666200	Enhancers	Primary monocytes fromperipheralblood	blood
43	chr6:24665600-24666200	Enhancers	Primary B cells from peripheral blood	blood
44	chr6:24665600-24666200	Weak transcription	Fetal Muscle Trunk	muscle
45	chr6:24665600-24666200	Flanking Active TSS	Fetal Stomach	stomach
46	chr6:24665600-24666400	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr6:24665600-24666400	Weak transcription	Spleen	Spleen
48	chr6:24665600-24666400	Flanking Active TSS	Dnd41	blood
49	chr6:24665600-24666400	Flanking Active TSS	Osteobl	bone
50	chr6:24665600-24666600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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