Variant report

Variant	rs9474318
Chromosome Location	chr6:13485164-13485165
allele	A/G
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	MXI1	chr6:13484535-13488686	SK-N-SH	brain:	n/a	n/a
2	SPI1	chr6:13484907-13485167	GM12891	blood:	n/a	n/a
3	TEAD4	chr6:13484316-13485232	K562	blood:	n/a	n/a
4	YY1	chr6:13484862-13485189	GM12878	blood:	n/a	chr6:13485070-13485092 chr6:13485073-13485081
5	FOXA2	chr6:13485078-13485555	HepG2	liver:	n/a	chr6:13485288-13485300
6	FOXA1	chr6:13484951-13485583	HepG2	liver:	n/a	chr6:13485237-13485252 chr6:13485288-13485300 chr6:13485565-13485577
7	FOXA1	chr6:13484960-13485492	HepG2	liver:	n/a	chr6:13485237-13485252 chr6:13485288-13485300
8	ARID3A	chr6:13485120-13485440	HepG2	liver:	n/a	n/a
9	MXI1	chr6:13484466-13485305	GM12878	blood:	n/a	n/a
10	POLR2A	chr6:13484915-13485280	GM12878	blood:	n/a	n/a
11	FOXA1	chr6:13485072-13485674	HepG2	liver:	n/a	chr6:13485237-13485252 chr6:13485288-13485300 chr6:13485565-13485577
12	YY1	chr6:13484893-13485193	GM12892	blood:	n/a	chr6:13485070-13485092 chr6:13485073-13485081
13	GATA2	chr6:13484384-13485467	HUVEC	blood vessel:	n/a	chr6:13484564-13484577 chr6:13485418-13485425
14	POLR2A	chr6:13484266-13486670	GM12891	blood:	n/a	n/a
15	FOXA1	chr6:13485065-13485526	HepG2	liver:	n/a	chr6:13485237-13485252 chr6:13485288-13485300
16	PML	chr6:13484330-13485202	K562	blood:	n/a	chr6:13484526-13484535
17	GATA1	chr6:13484243-13485738	PBDE	blood:	n/a	chr6:13484564-13484577 chr6:13485418-13485425
18	POLR2A	chr6:13484366-13488416	PBDE	blood:	n/a	n/a
19	WRNIP1	chr6:13484924-13485171	GM12878	blood:	n/a	n/a
20	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	chr6:13484664..13490672-chr6:13572714..13577234,9	K562	blood:
4	chr6:13484393..13490113-chr6:13572102..13578017,14	MCF-7	breast:
5	chr6:13465251..13472690-chr6:13481619..13489131,10	K562	blood:
6	chr6:13484080..13486133-chr6:13486417..13487997,2	MCF-7	breast:
7	chr6:13325999..13330365-chr6:13484429..13488653,6	MCF-7	breast:
8	chr6:13406818..13408886-chr6:13483840..13488220,5	MCF-7	breast:
9	chr6:13484642..13487748-chr6:13572714..13576594,3	K562	blood:

Variant related genes	Relation type
GFOD1-AS1	TF binding region
ENSG00000237786	Chromatin interaction
ENSG00000145990	Chromatin interaction
ENSG00000124523	Chromatin interaction
ENSG00000145979	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10452593	1.00[EUR][1000 genomes]
rs11967747	1.00[EUR][1000 genomes]
rs2560766	1.00[EUR][1000 genomes]
rs28854810	1.00[EUR][1000 genomes]
rs57091985	1.00[EUR][1000 genomes]
rs57343378	1.00[EUR][1000 genomes]
rs57461916	1.00[EUR][1000 genomes]
rs58064210	1.00[EUR][1000 genomes]
rs58327896	1.00[EUR][1000 genomes]
rs58379964	1.00[EUR][1000 genomes]
rs58519606	1.00[EUR][1000 genomes]
rs58726900	1.00[EUR][1000 genomes]
rs60136918	1.00[EUR][1000 genomes]
rs60607722	1.00[EUR][1000 genomes]
rs61376161	1.00[EUR][1000 genomes]
rs6458823	1.00[EUR][1000 genomes]
rs6910375	1.00[EUR][1000 genomes]
rs73356408	1.00[EUR][1000 genomes]
rs73356416	1.00[EUR][1000 genomes]
rs73356419	1.00[EUR][1000 genomes]
rs73356424	1.00[EUR][1000 genomes]
rs73356428	1.00[EUR][1000 genomes]
rs73356430	1.00[EUR][1000 genomes]
rs73356433	1.00[EUR][1000 genomes]
rs73356438	1.00[EUR][1000 genomes]
rs73356451	1.00[EUR][1000 genomes]
rs73356458	1.00[EUR][1000 genomes]
rs73356463	1.00[EUR][1000 genomes]
rs73366959	1.00[EUR][1000 genomes]
rs73366967	1.00[EUR][1000 genomes]
rs73372840	1.00[EUR][1000 genomes]
rs73372862	1.00[EUR][1000 genomes]
rs73372865	1.00[EUR][1000 genomes]
rs73372868	1.00[EUR][1000 genomes]
rs73372873	1.00[EUR][1000 genomes]
rs73372879	1.00[EUR][1000 genomes]
rs73372889	1.00[EUR][1000 genomes]
rs9370103	1.00[EUR][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	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	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
3	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
4	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
5	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:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:13469400-13485800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr6:13471000-13485400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr6:13471000-13485600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr6:13471800-13485600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr6:13477600-13485800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr6:13481200-13485200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr6:13481400-13485600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr6:13481400-13485600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr6:13481400-13486000	Weak transcription	Aorta	Aorta
10	chr6:13482600-13485800	Enhancers	Spleen	Spleen
11	chr6:13483200-13488800	Active TSS	Right Atrium	heart
12	chr6:13483400-13485200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
13	chr6:13483400-13485200	Active TSS	Duodenum Smooth Muscle	Duodenum
14	chr6:13483400-13485600	Enhancers	Fetal Thymus	thymus
15	chr6:13483400-13486400	Flanking Active TSS	Adipose Nuclei	Adipose
16	chr6:13483400-13487600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr6:13483600-13485400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr6:13483600-13485400	Enhancers	Placenta Amnion	Placenta Amnion
19	chr6:13483600-13485400	Enhancers	Thymus	Thymus
20	chr6:13483600-13485600	Enhancers	Colon Smooth Muscle	Colon
21	chr6:13483600-13485600	Weak transcription	Esophagus	oesophagus
22	chr6:13483600-13485800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr6:13483800-13485600	Active TSS	Brain Inferior Temporal Lobe	brain
24	chr6:13483800-13485600	Enhancers	Dnd41	blood
25	chr6:13483800-13485800	Enhancers	Primary B cells from peripheral blood	blood
26	chr6:13483800-13486000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
27	chr6:13484000-13485400	Enhancers	Stomach Mucosa	stomach
28	chr6:13484000-13485800	Weak transcription	Gastric	stomach
29	chr6:13484200-13485600	Flanking Active TSS	Fetal Brain Female	brain
30	chr6:13484200-13486000	Enhancers	Primary neutrophils fromperipheralblood	blood
31	chr6:13484200-13486000	Flanking Active TSS	HepG2	liver
32	chr6:13484200-13486000	Flanking Active TSS	K562	blood
33	chr6:13484200-13488600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr6:13484400-13485200	Flanking Active TSS	Left Ventricle	heart
35	chr6:13484400-13485400	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
36	chr6:13484400-13485400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
37	chr6:13484400-13485400	Enhancers	Primary T cells from cord blood	blood
38	chr6:13484400-13485400	Flanking Active TSS	Fetal Brain Male	brain
39	chr6:13484400-13485400	Enhancers	Hela-S3	cervix
40	chr6:13484400-13485600	Enhancers	Primary monocytes fromperipheralblood	blood
41	chr6:13484400-13485600	Enhancers	Brain Germinal Matrix	brain
42	chr6:13484400-13485800	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr6:13484400-13485800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr6:13484400-13485800	Enhancers	Primary T helper naive cells from peripheral blood	blood
45	chr6:13484400-13485800	Enhancers	Primary T helper cells fromperipheralblood	blood
46	chr6:13484400-13485800	Enhancers	Sigmoid Colon	Sigmoid Colon
47	chr6:13484400-13486200	Flanking Active TSS	Brain Cingulate Gyrus	brain
48	chr6:13484400-13486400	Flanking Active TSS	HUVEC	blood vessel
49	chr6:13484600-13485200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
50	chr6:13484600-13485200	Enhancers	Skeletal Muscle Female	skeletal muscle

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