Variant report

Variant	rs6911516
Chromosome Location	chr6:13483654-13483655
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	WRNIP1	chr6:13483606-13484677	GM12878	blood:	n/a	n/a
2	CTCF	chr6:13483600-13483750	K562	blood:	n/a	n/a
3	POLR2A	chr6:13483605-13483776	Hela-S3	cervix:	n/a	n/a
4	ZNF143	chr6:13483530-13483777	GM12878	blood:	n/a	n/a
5	GATA1	chr6:13483173-13486472	K562	blood:	n/a	chr6:13483771-13483784 chr6:13484564-13484577 chr6:13485418-13485425

No.	Distal block	Cell Line	Cell type
1	chr6:13468490..13471439-chr6:13483203..13485930,2	K562	blood:
2	chr6:13469372..13471111-chr6:13483426..13485334,2	MCF-7	breast:
3	chr6:13476458..13478204-chr6:13481195..13483832,3	K562	blood:
4	chr6:13479967..13483779-chr6:13484008..13490030,8	MCF-7	breast:
5	chr6:13465251..13472690-chr6:13481619..13489131,10	K562	blood:
6	chr6:13481880..13484650-chr6:13615357..13616960,2	K562	blood:

Variant related genes	Relation type
GFOD1-AS1	TF binding region
ENSG00000187461	Chromatin interaction
ENSG00000225921	Chromatin interaction
ENSG00000145990	Chromatin interaction
ENSG00000261071	Chromatin interaction
ENSG00000237786	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs13436985	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1529446	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1529447	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28407076	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs580566	1.00[AMR][1000 genomes]
rs58916275	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6900571	1.00[AMR][1000 genomes]
rs73723716	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73725837	1.00[AMR][1000 genomes]
rs7745293	1.00[AFR][1000 genomes]
rs7751772	1.00[AMR][1000 genomes]
rs7760365	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9463815	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9463817	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9474268	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9474275	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9474283	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9474287	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9474288	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9474289	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9474290	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9474292	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9474296	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9474297	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9474298	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9474300	0.87[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532021	chr6:13232627-13805381	Active TSS Genic enhancers Strong transcription Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv1028533	chr6:13239059-13484814	Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv538136	chr6:13239059-13484814	Strong transcription Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv1033620	chr6:13419730-13571788	Weak transcription Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv462640	chr6:13426539-13519434	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv600994	chr6:13426539-13519434	Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	nsv470802	chr6:13441424-13519371	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:13454400-13485000	Weak transcription	Colonic Mucosa	Colon
2	chr6:13455200-13484400	Weak transcription	Small Intestine	intestine
3	chr6:13455200-13484600	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr6:13462800-13484800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr6:13463600-13484400	Weak transcription	Primary T cells from cord blood	blood
6	chr6:13463800-13484600	Weak transcription	Duodenum Mucosa	Duodenum
7	chr6:13465200-13485000	Weak transcription	Rectal Smooth Muscle	rectum
8	chr6:13469400-13485800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr6:13471000-13485400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr6:13471000-13485600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr6:13471400-13484200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr6:13471600-13485000	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr6:13471800-13485600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr6:13472200-13484400	Weak transcription	Brain Substantia Nigra	brain
15	chr6:13474800-13484800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr6:13475400-13484400	Weak transcription	Hela-S3	cervix
17	chr6:13477600-13485800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr6:13478800-13484600	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr6:13479200-13483800	Weak transcription	Dnd41	blood
20	chr6:13479200-13483800	Weak transcription	NHLF	lung
21	chr6:13479200-13484400	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr6:13479800-13484400	Enhancers	Psoas Muscle	Psoas
23	chr6:13480200-13483800	Weak transcription	Primary B cells from peripheral blood	blood
24	chr6:13480800-13485000	Weak transcription	Placenta	Placenta
25	chr6:13481200-13483800	Weak transcription	Primary B cells from cord blood	blood
26	chr6:13481200-13485200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr6:13481400-13484200	Weak transcription	Monocytes-CD14+_RO01746	blood
28	chr6:13481400-13485600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr6:13481400-13485600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr6:13481400-13486000	Weak transcription	Aorta	Aorta
31	chr6:13481800-13485000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr6:13482000-13484200	Weak transcription	Primary neutrophils fromperipheralblood	blood
33	chr6:13482000-13484400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr6:13482000-13484400	Weak transcription	Primary monocytes fromperipheralblood	blood
35	chr6:13482000-13484600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr6:13482000-13484600	Weak transcription	A549	lung
37	chr6:13482000-13484600	Weak transcription	HMEC	breast
38	chr6:13482000-13485000	Weak transcription	Pancreas	Pancrea
39	chr6:13482000-13485000	Weak transcription	NH-A	brain
40	chr6:13482200-13483800	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr6:13482200-13484600	Weak transcription	Fetal Heart	heart
42	chr6:13482600-13485800	Enhancers	Spleen	Spleen
43	chr6:13483200-13488800	Active TSS	Right Atrium	heart
44	chr6:13483400-13483800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr6:13483400-13483800	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr6:13483400-13483800	Flanking Active TSS	Liver	Liver
47	chr6:13483400-13483800	Transcr. at gene 5' and 3'	Fetal Brain Female	brain
48	chr6:13483400-13484000	Flanking Active TSS	Left Ventricle	heart
49	chr6:13483400-13484200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr6:13483400-13484200	Enhancers	Skeletal Muscle Female	skeletal muscle

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