Variant report

Variant	rs73351942
Chromosome Location	chr6:11414863-11414864
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:52)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:52 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SP1	chr6:11414713-11415424	HCT-116	colon:	n/a	n/a
2	CBX3	chr6:11414677-11415325	HCT-116	colon:	n/a	n/a
3	SRF	chr6:11414697-11415338	MCF-7	breast:	n/a	n/a
4	GATA3	chr6:11414711-11415298	T-47D	breast:	n/a	n/a
5	POLR2A	chr6:11413990-11415487	MCF10A-Er-Src	breast:	n/a	n/a
6	POLR2A	chr6:11414818-11414990	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr6:11414711-11415076	HepG2	liver:	n/a	n/a
8	RFX5	chr6:11414777-11415211	HepG2	liver:	n/a	n/a
9	TBP	chr6:11414856-11415169	GM12878	blood:	n/a	n/a
10	RFX5	chr6:11414845-11415200	Hela-S3	cervix:	n/a	n/a
11	BATF	chr6:11414862-11415154	GM12878	blood:	n/a	n/a
12	USF2	chr6:11414858-11415038	Hela-S3	cervix:	n/a	n/a
13	CREB1	chr6:11414799-11415346	HepG2	liver:	n/a	n/a
14	POLR2A	chr6:11414808-11414975	HepG2	liver:	n/a	n/a
15	FOXA2	chr6:11414815-11415389	A549	lung:	n/a	n/a
16	FOXA1	chr6:11414732-11415443	HepG2	liver:	n/a	n/a
17	FOXM1	chr6:11414611-11415460	ECC-1	luminal epithelium:	n/a	n/a
18	POLR2A	chr6:11414745-11415125	HCT-116	colon:	n/a	n/a
19	SP1	chr6:11414794-11415359	A549	lung:	n/a	n/a
20	POLR2A	chr6:11414827-11414942	HepG2	liver:	n/a	n/a
21	EP300	chr6:11414727-11415300	HepG2	liver:	n/a	n/a
22	EP300	chr6:11414773-11415291	A549	lung:	n/a	n/a
23	SP1	chr6:11414700-11415391	A549	lung:	n/a	n/a
24	SP1	chr6:11414807-11415165	H1-hESC	embryonic stem cell:	n/a	n/a
25	SRF	chr6:11414761-11415375	HCT-116	colon:	n/a	n/a
26	ARID3A	chr6:11414799-11415198	HepG2	liver:	n/a	n/a
27	FOXA1	chr6:11414786-11415257	HepG2	liver:	n/a	n/a
28	NFYB	chr6:11414816-11415169	Hela-S3	cervix:	n/a	chr6:11415057-11415072
29	MYC	chr6:11414675-11415198	MCF10A-Er-Src	breast:	n/a	n/a
30	TCF12	chr6:11414789-11415386	A549	lung:	n/a	n/a
31	MYBL2	chr6:11414635-11415360	HepG2	liver:	n/a	n/a
32	POLR2A	chr6:11414693-11415292	MCF10A-Er-Src	breast:	n/a	n/a
33	FOXA1	chr6:11414766-11415318	HepG2	liver:	n/a	n/a
34	POLR2A	chr6:11414773-11415031	HepG2	liver:	n/a	n/a
35	EP300	chr6:11414848-11415315	T-47D	breast:	n/a	n/a
36	CREB1	chr6:11414786-11415323	HepG2	liver:	n/a	n/a
37	SP1	chr6:11414847-11415169	H1-hESC	embryonic stem cell:	n/a	n/a
38	NFYB	chr6:11414757-11415210	GM12878	blood:	n/a	chr6:11415057-11415072
39	SP1	chr6:11414853-11415164	GM12878	blood:	n/a	n/a
40	TEAD4	chr6:11414787-11415406	HepG2	liver:	n/a	n/a
41	FOXM1	chr6:11414779-11415266	MCF-7	breast:	n/a	n/a
42	FOXA1	chr6:11414846-11415306	HepG2	liver:	n/a	n/a
43	NFYA	chr6:11414857-11415114	GM12878	blood:	n/a	n/a
44	CREB1	chr6:11414799-11415271	GM12878	blood:	n/a	n/a
45	HEY1	chr6:11414755-11415169	HepG2	liver:	n/a	n/a
46	RFX5	chr6:11414858-11415087	H1-hESC	embryonic stem cell:	n/a	n/a
47	NFYA	chr6:11414835-11415221	Hela-S3	cervix:	n/a	n/a
48	STAT1	chr6:11414814-11415189	Hela-S3	cervix:	n/a	n/a
49	RFX5	chr6:11414863-11415127	GM12878	blood:	n/a	n/a
50	EP300	chr6:11414736-11415408	A549	lung:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:11228618..11230806-chr6:11414420..11416664,2	MCF-7	breast:
2	chr6:11229922..11234167-chr6:11411662..11415515,7	MCF-7	breast:
3	chr6:11387321..11394874-chr6:11409302..11416244,8	MCF-7	breast:
4	chr6:11216036..11217997-chr6:11412401..11415164,2	MCF-7	breast:
5	chr6:11413490..11417171-chr6:11433636..11437714,3	MCF-7	breast:
6	chr6:11394123..11395903-chr6:11413687..11415867,2	MCF-7	breast:
7	chr6:11388874..11392122-chr6:11413409..11415866,5	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000233656	TF binding region
ENSG00000111859	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10046197	1.00[EUR][1000 genomes]
rs1150563	1.00[EUR][1000 genomes]
rs1195651	1.00[EUR][1000 genomes]
rs11962713	1.00[EUR][1000 genomes]
rs12332876	1.00[EUR][1000 genomes]
rs2807965	1.00[EUR][1000 genomes]
rs295057	1.00[EUR][1000 genomes]
rs477973	1.00[EUR][1000 genomes]
rs544766	1.00[EUR][1000 genomes]
rs552548	1.00[EUR][1000 genomes]
rs585322	1.00[EUR][1000 genomes]
rs58716971	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59791855	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs609389	1.00[EUR][1000 genomes]
rs613353	1.00[EUR][1000 genomes]
rs61378967	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs617146	1.00[EUR][1000 genomes]
rs656674	1.00[EUR][1000 genomes]
rs6936918	1.00[EUR][1000 genomes]
rs6940009	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73351939	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73351967	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73351970	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73351978	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73351980	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73355853	1.00[EUR][1000 genomes]
rs73366824	1.00[AMR][1000 genomes]
rs73368833	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7744252	1.00[EUR][1000 genomes]
rs7744403	1.00[EUR][1000 genomes]
rs7761428	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs821537	1.00[EUR][1000 genomes]
rs821541	1.00[EUR][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	nsv1021078	chr6:10819083-11558560	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv538135	chr6:10819083-11558560	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv432848	chr6:11371614-11560114	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:11405400-11419400	Weak transcription	Aorta	Aorta
2	chr6:11411000-11415200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr6:11411200-11415000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
4	chr6:11411200-11415000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
5	chr6:11411200-11415600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr6:11411600-11417000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr6:11412200-11415400	Enhancers	Primary T helper cells PMA-I stimulated	--
8	chr6:11412400-11415200	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr6:11412400-11415200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr6:11412400-11415400	Enhancers	Primary T helper cells fromperipheralblood	blood
11	chr6:11412400-11416400	Weak transcription	Fetal Kidney	kidney
12	chr6:11412600-11416000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr6:11412600-11416200	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr6:11412600-11416400	Weak transcription	NH-A	brain
15	chr6:11412600-11425600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr6:11412600-11425600	Weak transcription	NHLF	lung
17	chr6:11412800-11415000	Weak transcription	NHDF-Ad	bronchial
18	chr6:11412800-11415200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr6:11412800-11416400	Weak transcription	HSMM	muscle
20	chr6:11413400-11415600	Enhancers	Hela-S3	cervix
21	chr6:11413600-11415600	Enhancers	Monocytes-CD14+_RO01746	blood
22	chr6:11413600-11416800	Enhancers	NHEK	skin
23	chr6:11413800-11415800	Enhancers	Primary neutrophils fromperipheralblood	blood
24	chr6:11413800-11416600	Enhancers	HepG2	liver
25	chr6:11414200-11415000	Enhancers	Pancreatic Islets	Pancreatic Islet
26	chr6:11414200-11415200	Enhancers	HUVEC	blood vessel
27	chr6:11414600-11415000	Enhancers	Liver	Liver
28	chr6:11414600-11415200	Enhancers	Primary B cells from cord blood	blood
29	chr6:11414600-11415400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr6:11414600-11415400	Flanking Active TSS	A549	lung
31	chr6:11414800-11415000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr6:11414800-11415000	Enhancers	Placenta	Placenta
33	chr6:11414800-11415200	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr6:11414800-11415200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr6:11414800-11415200	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr6:11414800-11415200	Enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr6:11414800-11415200	Enhancers	Primary B cells from peripheral blood	blood
38	chr6:11414800-11415400	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr6:11414800-11415400	Enhancers	Primary T cells fromperipheralblood	blood
40	chr6:11414800-11415400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr6:11414800-11415400	ZNF genes & repeats	GM12878-XiMat	blood
42	chr6:11414800-11415600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood

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