Variant report

Variant	rs9472663
Chromosome Location	chr6:45983683-45983684
allele	C/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	EGR1	chr6:45982641-45983850	HCT-116	colon:	n/a	chr6:45983638-45983648 chr6:45983491-45983501 chr6:45982973-45982986 chr6:45983486-45983499
2	ZBTB7A	chr6:45982816-45983894	ECC-1	luminal epithelium:	n/a	n/a
3	MEF2C	chr6:45983384-45983686	GM12878	blood:	n/a	chr6:45983617-45983631
4	CREB1	chr6:45983364-45983832	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr6:45983198-45983697	ECC-1	luminal epithelium:	n/a	n/a
6	ZBTB7A	chr6:45982812-45983917	ECC-1	luminal epithelium:	n/a	n/a
7	EP300	chr6:45982734-45983833	ECC-1	luminal epithelium:	n/a	chr6:45983632-45983648 chr6:45982770-45982784 chr6:45983359-45983375 chr6:45982746-45982760 chr6:45983109-45983125
8	CTBP2	chr6:45982874-45984194	H1-hESC	embryonic stem cell:	n/a	n/a
9	SPI1	chr6:45983649-45984199	HL-60	blood:	n/a	n/a
10	CREB1	chr6:45983289-45983789	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
RNU6-754P	TF binding region
CLIC5	TF binding region

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs2179994	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73738335	0.90[ASN][1000 genomes]
rs9349341	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9369594	0.90[ASN][1000 genomes]
rs9395145	0.90[ASN][1000 genomes]
rs9463172	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9472675	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[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	nsv428482	chr6:45926644-46050182	Genic enhancers Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv1025846	chr6:45955173-46047269	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:45979200-45984000	Active TSS	Right Atrium	heart
2	chr6:45980200-45983800	Active TSS	Fetal Kidney	kidney
3	chr6:45980800-45983800	Active TSS	Small Intestine	intestine
4	chr6:45980800-45984000	Active TSS	Left Ventricle	heart
5	chr6:45981200-45984000	Active TSS	Right Ventricle	heart
6	chr6:45981800-45983800	Active TSS	Lung	lung
7	chr6:45981800-45983800	Active TSS	Psoas Muscle	Psoas
8	chr6:45981800-45984600	Active TSS	Skeletal Muscle Female	skeletal muscle
9	chr6:45982000-45983800	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
10	chr6:45982000-45984200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr6:45982200-45983800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
12	chr6:45982200-45983800	Active TSS	Breast Myoepithelial Primary Cells	Breast
13	chr6:45982200-45983800	Flanking Active TSS	Primary hematopoietic stem cells	blood
14	chr6:45982200-45983800	Active TSS	Primary T helper naive cells from peripheral blood	blood
15	chr6:45982200-45983800	Active TSS	Pancreatic Islets	Pancreatic Islet
16	chr6:45982400-45983800	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
17	chr6:45982400-45983800	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr6:45982400-45983800	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
19	chr6:45982400-45983800	Bivalent/Poised TSS	Brain Angular Gyrus	brain
20	chr6:45982400-45983800	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
21	chr6:45982400-45983800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
22	chr6:45982400-45984200	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr6:45982400-45984200	Bivalent/Poised TSS	Fetal Lung	lung
24	chr6:45982400-45984400	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
25	chr6:45982600-45983800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
26	chr6:45982600-45983800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
27	chr6:45982600-45983800	Flanking Bivalent TSS/Enh	HMEC	breast
28	chr6:45982600-45984000	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr6:45982600-45984000	Active TSS	Primary T killer memory cells from peripheral blood	blood
30	chr6:45982600-45984200	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
31	chr6:45982600-45984200	Active TSS	Rectal Mucosa Donor 31	rectum
32	chr6:45982600-45984200	Active TSS	Skeletal Muscle Male	skeletal muscle
33	chr6:45982800-45983800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr6:45982800-45983800	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr6:45982800-45983800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr6:45982800-45983800	Active TSS	Primary T helper naive cells fromperipheralblood	blood
37	chr6:45982800-45983800	Active TSS	Primary T helper cells fromperipheralblood	blood
38	chr6:45982800-45983800	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr6:45982800-45983800	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr6:45982800-45983800	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
41	chr6:45982800-45983800	Active TSS	Pancreas	Pancrea
42	chr6:45982800-45983800	Bivalent/Poised TSS	HSMMtube	muscle
43	chr6:45982800-45984000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
44	chr6:45982800-45984200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
45	chr6:45982800-45984200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
46	chr6:45982800-45984200	Active TSS	Hela-S3	cervix
47	chr6:45982800-45984400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
48	chr6:45982800-45984600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
49	chr6:45983000-45983800	Active TSS	Brain Anterior Caudate	brain
50	chr6:45983000-45983800	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon

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