Variant report

Variant	rs73779836
Chromosome Location	chr6:131952764-131952765
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:23)
CpG islands
(count:61)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:23 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr6:131952419-131953081	T-47D	breast:	n/a	n/a
2	GATA3	chr6:131952491-131953129	MCF-7	breast:	n/a	n/a
3	EP300	chr6:131952483-131953122	T-47D	breast:	n/a	chr6:131953008-131953016
4	TEAD4	chr6:131952719-131953476	HepG2	liver:	n/a	n/a
5	EP300	chr6:131952515-131953234	T-47D	breast:	n/a	chr6:131953008-131953016
6	FOXA1	chr6:131952563-131953217	T-47D	breast:	n/a	n/a
7	FOXA1	chr6:131952468-131953113	T-47D	breast:	n/a	n/a
8	FOXA1	chr6:131952742-131953173	HepG2	liver:	n/a	n/a
9	ESR1	chr6:131952620-131953188	T-47D	breast:	n/a	n/a
10	TCF7L2	chr6:131952725-131953075	MCF-7	breast:	n/a	n/a
11	FOXA1	chr6:131952668-131953099	HepG2	liver:	n/a	n/a
12	NR3C1	chr6:131952753-131953303	ECC-1	luminal epithelium:	n/a	n/a
13	GATA3	chr6:131952434-131953156	MCF-7	breast:	n/a	n/a
14	MYBL2	chr6:131952655-131953301	HepG2	liver:	n/a	n/a
15	FOXA1	chr6:131952659-131953240	HepG2	liver:	n/a	n/a
16	ESR1	chr6:131952614-131953037	T-47D	breast:	n/a	n/a
17	JUND	chr6:131952590-131953236	T-47D	breast:	n/a	chr6:131952634-131952646 chr6:131952659-131952669
18	ESR1	chr6:131952640-131953102	T-47D	breast:	n/a	n/a
19	ESR1	chr6:131952693-131953070	T-47D	breast:	n/a	n/a
20	ESR1	chr6:131952682-131953110	T-47D	breast:	n/a	n/a
21	ELF1	chr6:131952702-131952963	HepG2	liver:	n/a	n/a
22	GATA3	chr6:131952429-131953125	T-47D	breast:	n/a	n/a
23	GATA3	chr6:131952681-131953042	MCF-7	breast:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:131952764-131952814	HMEC	breast:	n/a
2	chr6:131952764-131952814	U87	brain:	n/a
3	chr6:131952764-131952814	MCF10A-Er-Src	breast:	n/a
4	chr6:131952764-131952814	Hepatocyte	liver:	n/a
5	chr6:131952764-131952814	CMK	blood:	n/a
6	chr6:131952764-131952814	MCF-7	breast:	n/a
7	chr6:131952764-131952814	T-47D	breast:	n/a
8	chr6:131952764-131952814	HCF	heart:	n/a
9	chr6:131952764-131952814	HCM	heart:	n/a
10	chr6:131952764-131952814	SK-N-SH	brain:	n/a
11	chr6:131952764-131952814	PrEC	prostate:	n/a
12	chr6:131952764-131952814	HUVEC	blood vessel:	n/a
13	chr6:131952764-131952814	NT2-D1	testis:	n/a
14	chr6:131952764-131952814	HPAEpiC	pulmonary alveolar:	n/a
15	chr6:131952764-131952814	HNPCEpiC	eye:	n/a
16	chr6:131952764-131952814	NHDF-neo	bronchial:	n/a
17	chr6:131952764-131952814	SAEC	small airway:	n/a
18	chr6:131952764-131952814	Caco-2	colon:	n/a
19	chr6:131952764-131952814	AG04449	skin:	fetal
20	chr6:131952764-131952814	HRE	kidney:	n/a
21	chr6:131952764-131952814	SK-N-SH_RA	brain:	n/a
22	chr6:131952764-131952814	BJ	skin:	n/a
23	chr6:131952764-131952814	GM12878	blood:	n/a
24	chr6:131952764-131952814	H1-hESC	embryonic stem cell:	embryo
25	chr6:131952764-131952814	AG09309	skin:	n/a
26	chr6:131952764-131952814	RPTEC	kidney:	n/a
27	chr6:131952764-131952814	Jurkat	blood:	n/a
28	chr6:131952764-131952814	AG04450	lung:	fetal
29	chr6:131952764-131952814	NHBE	bronchial:	n/a
30	chr6:131952764-131952814	A549	lung:	n/a
31	chr6:131952764-131952814	HL-60	blood:	n/a
32	chr6:131952764-131952814	HAEpiC	amniotic membrane:	n/a
33	chr6:131952764-131952814	SK-N-MC	brain:	n/a
34	chr6:131952764-131952814	PFSK-1	brain:	n/a
35	chr6:131952764-131952814	ovcar-3	ovarian:	n/a
36	chr6:131952764-131952814	LNCaP	prostate:	n/a
37	chr6:131952764-131952814	AG10803	skin:	n/a
38	chr6:131952764-131952814	IMR90	lung:	fetal
39	chr6:131952764-131952814	AG09319	gingival:	n/a
40	chr6:131952764-131952814	NB4	blood:	n/a
41	chr6:131952764-131952814	AoSMC	blood vessel:	n/a
42	chr6:131952764-131952814	ECC-1	luminal epithelium:	n/a
43	chr6:131952764-131952814	HepG2	liver:	n/a
44	chr6:131952764-131952814	GM12892	blood:	n/a
45	chr6:131952764-131952814	GM19239	blood:	n/a
46	chr6:131952764-131952814	HCT-116	colon:	n/a
47	chr6:131952764-131952814	HRPEpiC	eye:	n/a
48	chr6:131952764-131952814	Hela-S3	cervix:	n/a
49	chr6:131952764-131952814	SKMC	muscle:	n/a
50	chr6:131952764-131952814	ProgFib	skin:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr6:131947772..131950974-chr6:131951225..131955370,4	MCF-7	breast:
2	chr6:131945868..131955351-chr6:131956247..131968981,28	K562	blood:
3	chr6:131948179..131950748-chr6:131950966..131954559,4	MCF-7	breast:
4	chr6:131949365..131953603-chr6:131971886..131975969,6	MCF-7	breast:

No data

Variant related genes	Relation type
MED23	TF binding region
MED23	CpG island
ENSG00000112282	Chromatin interaction
ENSG00000154269	Chromatin interaction
ENSG00000252560	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11965499	1.00[ASN][1000 genomes]
rs17060457	1.00[ASN][1000 genomes]
rs2295446	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2297637	0.80[AFR][1000 genomes]
rs56235482	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6923189	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73779832	1.00[ASN][1000 genomes]
rs73779846	0.93[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7740743	1.00[ASN][1000 genomes]
rs7747145	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv515476	chr6:131615425-132228577	Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv886668	chr6:131814865-131954797	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv7968	chr6:131917172-132321099	Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:131949800-131952800	Weak transcription	Fetal Intestine Small	intestine
2	chr6:131949800-131983200	Weak transcription	Aorta	Aorta
3	chr6:131950200-131962600	Weak transcription	Small Intestine	intestine
4	chr6:131952000-131958400	Weak transcription	K562	blood
5	chr6:131952400-131952800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr6:131952400-131952800	Enhancers	Duodenum Mucosa	Duodenum
7	chr6:131952400-131953600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr6:131952400-131953800	Enhancers	Fetal Intestine Large	intestine
9	chr6:131952600-131953400	Flanking Active TSS	HepG2	liver
10	chr6:131952600-131973800	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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