Variant report

Variant	rs73766212
Chromosome Location	chr6:117802413-117802414
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:24)
CpG islands
(count:61)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:24 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MBD4	chr6:117802356-117803124	HepG2	liver:	n/a	n/a
2	ZEB1	chr6:117802335-117803996	HepG2	liver:	n/a	n/a
3	SP1	chr6:117802321-117802895	HepG2	liver:	n/a	chr6:117802628-117802642
4	MYBL2	chr6:117802336-117804909	HepG2	liver:	n/a	n/a
5	EP300	chr6:117802258-117802872	HepG2	liver:	n/a	chr6:117802524-117802538 chr6:117802518-117802532 chr6:117802504-117802514
6	FOXA2	chr6:117802345-117802803	HepG2	liver:	n/a	n/a
7	HNF4A	chr6:117802356-117802732	HepG2	liver:	n/a	chr6:117802573-117802588
8	FOXA2	chr6:117802063-117802799	HepG2	liver:	n/a	n/a
9	HNF4G	chr6:117802360-117802851	HepG2	liver:	n/a	n/a
10	E2F6	chr6:117802405-117804887	H1-hESC	embryonic stem cell:	n/a	chr6:117803156-117803168 chr6:117804649-117804659 chr6:117804518-117804529 chr6:117803839-117803849
11	HEY1	chr6:117802398-117802899	HepG2	liver:	n/a	n/a
12	FOXA1	chr6:117802201-117802851	HepG2	liver:	n/a	n/a
13	MAX	chr6:117802338-117805250	HepG2	liver:	n/a	n/a
14	CREB1	chr6:117802394-117804854	HepG2	liver:	n/a	n/a
15	EP300	chr6:117802349-117802809	HepG2	liver:	n/a	chr6:117802524-117802538 chr6:117802518-117802532 chr6:117802504-117802514
16	FOXA1	chr6:117802363-117802874	HepG2	liver:	n/a	n/a
17	TEAD4	chr6:117801774-117802940	HepG2	liver:	n/a	n/a
18	HDAC2	chr6:117802346-117802871	HepG2	liver:	n/a	chr6:117802518-117802532 chr6:117802532-117802546
19	MYBL2	chr6:117802302-117803912	HepG2	liver:	n/a	n/a
20	FOXA1	chr6:117802251-117802873	HepG2	liver:	n/a	n/a
21	HDAC2	chr6:117802311-117802833	HepG2	liver:	n/a	chr6:117802518-117802532 chr6:117802532-117802546
22	FOXA1	chr6:117802284-117802861	HepG2	liver:	n/a	n/a
23	NFIC	chr6:117802320-117802834	HepG2	liver:	n/a	n/a
24	MAX	chr6:117802394-117805190	HepG2	liver:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:117802401-117802451	HRPEpiC	eye:	n/a
2	chr6:117802401-117802451	U87	brain:	n/a
3	chr6:117802401-117802451	HPAEpiC	pulmonary alveolar:	n/a
4	chr6:117802401-117802451	SAEC	small airway:	n/a
5	chr6:117802401-117802451	HCF	heart:	n/a
6	chr6:117802401-117802451	IMR90	lung:	fetal
7	chr6:117802401-117802451	AG04449	skin:	fetal
8	chr6:117802401-117802451	GM12878	blood:	n/a
9	chr6:117802401-117802451	HNPCEpiC	eye:	n/a
10	chr6:117802401-117802451	HAEpiC	amniotic membrane:	n/a
11	chr6:117802401-117802451	MCF-7	breast:	n/a
12	chr6:117802401-117802451	NB4	blood:	n/a
13	chr6:117802401-117802451	ProgFib	skin:	n/a
14	chr6:117802401-117802451	HepG2	liver:	n/a
15	chr6:117802401-117802451	HCM	heart:	n/a
16	chr6:117802401-117802451	AG09319	gingival:	n/a
17	chr6:117802401-117802451	Caco-2	colon:	n/a
18	chr6:117802401-117802451	Hepatocyte	liver:	n/a
19	chr6:117802401-117802451	HEK293	kidney:	embryo
20	chr6:117802401-117802451	AG10803	skin:	n/a
21	chr6:117802401-117802451	GM12891	blood:	n/a
22	chr6:117802401-117802451	CMK	blood:	n/a
23	chr6:117802401-117802451	ECC-1	luminal epithelium:	n/a
24	chr6:117802401-117802451	GM19239	blood:	n/a
25	chr6:117802401-117802451	GM12892	blood:	n/a
26	chr6:117802401-117802451	AG04450	lung:	fetal
27	chr6:117802401-117802451	HUVEC	blood vessel:	n/a
28	chr6:117802401-117802451	HCT-116	colon:	n/a
29	chr6:117802401-117802451	BE2_C	brain:	n/a
30	chr6:117802401-117802451	NH-A	brain:	n/a
31	chr6:117802401-117802451	HMEC	breast:	n/a
32	chr6:117802401-117802451	HL-60	blood:	n/a
33	chr6:117802401-117802451	SK-N-SH	brain:	n/a
34	chr6:117802401-117802451	HRE	kidney:	n/a
35	chr6:117802401-117802451	NHBE	bronchial:	n/a
36	chr6:117802401-117802451	H1-hESC	embryonic stem cell:	embryo
37	chr6:117802401-117802451	A549	lung:	n/a
38	chr6:117802401-117802451	AoSMC	blood vessel:	n/a
39	chr6:117802401-117802451	HRCEpiC	kidney:	n/a
40	chr6:117802401-117802451	HEEpiC	esophagus:	n/a
41	chr6:117802401-117802451	Jurkat	blood:	n/a
42	chr6:117802401-117802451	Hela-S3	cervix:	n/a
43	chr6:117802401-117802451	PANC-1	pancreas:	n/a
44	chr6:117802401-117802451	BJ	skin:	n/a
45	chr6:117802401-117802451	PFSK-1	brain:	n/a
46	chr6:117802401-117802451	K562	blood:	n/a
47	chr6:117802401-117802451	ovcar-3	ovarian:	n/a
48	chr6:117802401-117802451	HCPEpiC	choroid plexus:	n/a
49	chr6:117802401-117802451	RPTEC	kidney:	n/a
50	chr6:117802401-117802451	SK-N-MC	brain:	n/a

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:117799806..117802489-chr6:117925663..117927637,2	MCF-7	breast:
2	chr6:101327181..101330084-chr6:117801293..117803939,2	K562	blood:
3	chr6:117798788..117807313-chr6:117921918..117925735,11	MCF-7	breast:
4	chr6:117802223..117804604-chr6:117922456..117924196,2	MCF-7	breast:

No data

Variant related genes	Relation type
DCBLD1	TF binding region
DCBLD1	CpG island
ENSG00000047932	Chromatin interaction
ENSG00000112249	Chromatin interaction
ENSG00000260000	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs17079286	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4946257	0.91[EUR][1000 genomes]
rs73766211	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73766221	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73766223	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9374660	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9385016	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9385017	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9387483	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9401009	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532050	chr6:117528154-118203005	ZNF genes & repeats Enhancers Bivalent Enhancer Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:117798600-117802600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr6:117799800-117803000	Weak transcription	Ovary	ovary
3	chr6:117800000-117802600	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr6:117800000-117802600	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr6:117800000-117803200	Weak transcription	HSMM	muscle
6	chr6:117800200-117802600	Weak transcription	Brain Anterior Caudate	brain
7	chr6:117800200-117802600	Weak transcription	Duodenum Mucosa	Duodenum
8	chr6:117800200-117802600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr6:117800200-117802600	Weak transcription	Fetal Intestine Large	intestine
10	chr6:117800200-117803000	Weak transcription	NHDF-Ad	bronchial
11	chr6:117800200-117803200	Weak transcription	HSMMtube	muscle
12	chr6:117800200-117803400	Weak transcription	Small Intestine	intestine
13	chr6:117800400-117802600	Weak transcription	GM12878-XiMat	blood
14	chr6:117801400-117802800	Weak transcription	Liver	Liver
15	chr6:117801800-117802600	Flanking Active TSS	HepG2	liver
16	chr6:117801800-117802800	Enhancers	A549	lung
17	chr6:117802000-117802600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
18	chr6:117802000-117802800	Enhancers	Fetal Intestine Small	intestine
19	chr6:117802200-117803200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr6:117802200-117803200	Enhancers	NHEK	skin
21	chr6:117802400-117802600	Bivalent/Poised TSS	Primary T cells fromperipheralblood	blood
22	chr6:117802400-117802600	Bivalent/Poised TSS	Primary T killer naive cells fromperipheralblood	blood
23	chr6:117802400-117802600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr6:117802400-117802600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr6:117802400-117802600	Enhancers	Adipose Nuclei	Adipose
26	chr6:117802400-117802800	Bivalent Enhancer	Primary hematopoietic stem cells	blood
27	chr6:117802400-117802800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
28	chr6:117802400-117802800	Enhancers	Primary T helper cells PMA-I stimulated	--
29	chr6:117802400-117803000	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
30	chr6:117802400-117803000	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
31	chr6:117802400-117803000	Enhancers	Stomach Mucosa	stomach
32	chr6:117802400-117803600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
33	chr6:117802400-117803800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
34	chr6:117802400-117806400	Active TSS	Pancreatic Islets	Pancreatic Islet

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