Variant report

Variant	rs73747445
Chromosome Location	chr6:75918710-75918711
allele	C/T
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	TBL1XR1	chr6:75918679-75919010	K562	blood:	n/a	n/a
2	CTCF	chr6:75918633-75919027	H1-hESC	embryonic stem cell:	n/a	chr6:75918829-75918850 chr6:75918834-75918852 chr6:75918835-75918851
3	SMC3	chr6:75918663-75919025	HepG2	liver:	n/a	chr6:75918836-75918850
4	CTCF	chr6:75918266-75919229	A549	lung:	n/a	chr6:75918829-75918850 chr6:75918834-75918852 chr6:75918835-75918851
5	MAX	chr6:75918545-75919026	A549	lung:	n/a	n/a
6	RAD21	chr6:75918564-75919052	GM12878	blood:	n/a	chr6:75918842-75918849 chr6:75918832-75918851
7	STAT1	chr6:75918581-75918913	GM12878	blood:	n/a	n/a
8	SMC3	chr6:75918475-75919255	SK-N-SH	brain:	n/a	chr6:75918836-75918850
9	RAD21	chr6:75918569-75919016	K562	blood:	n/a	chr6:75918842-75918849 chr6:75918832-75918851
10	RAD21	chr6:75918438-75919201	HCT-116	colon:	n/a	chr6:75918842-75918849 chr6:75918832-75918851
11	CTCF	chr6:75918644-75919212	K562	blood:	n/a	chr6:75918829-75918850 chr6:75918834-75918852 chr6:75918835-75918851
12	CTCF	chr6:75918702-75918987	MCF-7	breast:	n/a	chr6:75918829-75918850 chr6:75918834-75918852 chr6:75918835-75918851
13	CTCF	chr6:75918709-75918952	MCF-7	breast:	n/a	chr6:75918829-75918850 chr6:75918834-75918852 chr6:75918835-75918851
14	CTCF	chr6:75918672-75918967	K562	blood:	n/a	chr6:75918829-75918850 chr6:75918834-75918852 chr6:75918835-75918851
15	MAZ	chr6:75918625-75919007	K562	blood:	n/a	n/a
16	WRNIP1	chr6:75918357-75919038	GM12878	blood:	n/a	n/a
17	EBF1	chr6:75918267-75918812	GM12878	blood:	n/a	chr6:75918449-75918462 chr6:75918530-75918539 chr6:75918451-75918460 chr6:75918529-75918539 chr6:75918528-75918539
18	CTCF	chr6:75918585-75919122	MCF-7	breast:	n/a	chr6:75918829-75918850 chr6:75918834-75918852 chr6:75918835-75918851
19	CTCF	chr6:75918402-75919183	HCT-116	colon:	n/a	chr6:75918829-75918850 chr6:75918834-75918852 chr6:75918835-75918851
20	RFX5	chr6:75918526-75918944	GM12878	blood:	n/a	n/a
21	E2F6	chr6:75918503-75919036	H1-hESC	embryonic stem cell:	n/a	n/a
22	CTCF	chr6:75918693-75918989	LNCaP	prostate:	n/a	chr6:75918829-75918850 chr6:75918834-75918852 chr6:75918835-75918851
23	CTCF	chr6:75918683-75918926	T-47D	breast:	n/a	chr6:75918829-75918850 chr6:75918834-75918852 chr6:75918835-75918851
24	CTCF	chr6:75918694-75919000	GM12878	blood:	n/a	chr6:75918829-75918850 chr6:75918834-75918852 chr6:75918835-75918851
25	RAD21	chr6:75918598-75919053	HepG2	liver:	n/a	chr6:75918842-75918849 chr6:75918832-75918851
26	TAL1	chr6:75918692-75918837	K562	blood:	n/a	n/a
27	CHD1	chr6:75918599-75919017	GM12878	blood:	n/a	n/a
28	RAD21	chr6:75918626-75919036	A549	lung:	n/a	chr6:75918842-75918849 chr6:75918832-75918851
29	FOXA2	chr6:75918705-75919004	HepG2	liver:	n/a	n/a
30	MAX	chr6:75918577-75918941	SK-N-SH	brain:	n/a	n/a
31	RAD21	chr6:75918568-75919149	Hela-S3	cervix:	n/a	chr6:75918842-75918849 chr6:75918832-75918851
32	CUX1	chr6:75918610-75918874	GM12878	blood:	n/a	n/a
33	CTCF	chr6:75918699-75918945	GM12891	blood:	n/a	chr6:75918829-75918850 chr6:75918834-75918852 chr6:75918835-75918851
34	SMC3	chr6:75918563-75919036	K562	blood:	n/a	chr6:75918836-75918850
35	CTCF	chr6:75918703-75918976	A549	lung:	n/a	chr6:75918829-75918850 chr6:75918834-75918852 chr6:75918835-75918851
36	RAD21	chr6:75918564-75919097	H1-hESC	embryonic stem cell:	n/a	chr6:75918842-75918849 chr6:75918832-75918851
37	CTCF	chr6:75918662-75919008	Spleen_OC	spleen:	n/a	chr6:75918829-75918850 chr6:75918834-75918852 chr6:75918835-75918851
38	CTCF	chr6:75918579-75919049	H1-hESC	embryonic stem cell:	n/a	chr6:75918829-75918850 chr6:75918834-75918852 chr6:75918835-75918851
39	TBP	chr6:75918664-75918936	H1-hESC	embryonic stem cell:	n/a	n/a
40	RAD21	chr6:75918699-75919022	GM12878	blood:	n/a	chr6:75918842-75918849 chr6:75918832-75918851
41	RAD21	chr6:75918453-75919153	MCF-7	breast:	n/a	chr6:75918842-75918849 chr6:75918832-75918851
42	EBF1	chr6:75918263-75918734	GM12878	blood:	n/a	chr6:75918449-75918462 chr6:75918530-75918539 chr6:75918451-75918460 chr6:75918529-75918539 chr6:75918528-75918539
43	CTCF	chr6:75918653-75918927	HepG2	liver:	n/a	chr6:75918829-75918850 chr6:75918834-75918852 chr6:75918835-75918851
44	CHD2	chr6:75918507-75919113	H1-hESC	embryonic stem cell:	n/a	n/a
45	POLR2A	chr6:75918645-75919108	IMR90	lung:	n/a	n/a
46	EP300	chr6:75918305-75918866	GM12878	blood:	n/a	n/a
47	E2F4	chr6:75918678-75918928	MCF10A-Er-Src	breast:	n/a	n/a
48	RAD21	chr6:75918629-75918953	K562	blood:	n/a	chr6:75918842-75918849 chr6:75918832-75918851
49	RAD21	chr6:75918697-75918960	K562	blood:	n/a	chr6:75918842-75918849 chr6:75918832-75918851
50	MAZ	chr6:75918640-75918901	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:75118557..75119496-chr6:75918100..75919176,3	MCF-7	breast:
2	chr6:74448547..74449464-chr6:75918352..75919189,6	K562	blood:
3	chr6:75053590..75054206-chr6:75918614..75919395,2	MCF-7	breast:
4	chr6:74448654..74449240-chr6:75918596..75919233,3	MCF-7	breast:
5	chr6:74495117..74497243-chr6:75916088..75918968,2	MCF-7	breast:
6	chr6:75915774..75918712-chr6:75944046..75945609,2	MCF-7	breast:

Variant related genes	Relation type
COL12A1	TF binding region

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs55808482	0.87[AFR][1000 genomes]
rs55840614	0.87[AFR][1000 genomes]
rs56115959	0.87[AFR][1000 genomes]
rs57828997	1.00[AFR][1000 genomes]
rs58046294	0.87[AFR][1000 genomes]
rs58997024	0.87[AFR][1000 genomes]
rs59493800	1.00[AFR][1000 genomes]
rs60105031	1.00[AFR][1000 genomes]
rs60548078	1.00[AFR][1000 genomes]
rs60997647	1.00[AFR][1000 genomes]
rs6904885	0.87[AFR][1000 genomes]
rs6927227	0.87[AFR][1000 genomes]
rs73747438	1.00[AFR][1000 genomes]
rs73747447	1.00[AFR][1000 genomes]
rs73747449	1.00[AFR][1000 genomes]
rs73747450	1.00[AFR][1000 genomes]
rs73747451	0.87[AFR][1000 genomes]
rs73747452	1.00[AFR][1000 genomes]
rs73747454	0.87[AFR][1000 genomes]
rs73747455	0.87[AFR][1000 genomes]
rs73750962	0.87[AFR][1000 genomes]
rs73750964	0.87[AFR][1000 genomes]
rs73750967	0.87[AFR][1000 genomes]
rs7755634	0.87[AFR][1000 genomes]
rs7773618	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022377	chr6:75762463-75919592	Genic enhancers Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
2	nsv538309	chr6:75762463-75919592	Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
3	nsv1016804	chr6:75775846-76188585	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv538310	chr6:75775846-76188585	Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription 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 miRNA target site	38 gene(s)	inside rSNPs	diseases
5	nsv463155	chr6:75789526-75980419	Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv603762	chr6:75789526-75980419	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	18 gene(s)	inside rSNPs	diseases
7	nsv1024079	chr6:75848556-76238519	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
8	nsv886181	chr6:75852488-75919484	Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	nsv1027915	chr6:75893542-76510113	Active TSS Enhancers Strong transcription Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
10	nsv538311	chr6:75893542-76510113	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:75913800-75918800	Active TSS	Right Atrium	heart
2	chr6:75914000-75918800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr6:75914200-75918800	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
4	chr6:75914800-75918800	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
5	chr6:75915800-75918800	Bivalent Enhancer	Placenta	Placenta
6	chr6:75916600-75918800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr6:75916600-75918800	Bivalent Enhancer	Fetal Thymus	thymus
8	chr6:75917000-75918800	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
9	chr6:75917200-75918800	Bivalent Enhancer	HUVEC	blood vessel
10	chr6:75917600-75946600	Weak transcription	Lung	lung
11	chr6:75917800-75918800	Enhancers	Placenta Amnion	Placenta Amnion
12	chr6:75917800-75919200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr6:75918000-75918800	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
14	chr6:75918000-75918800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr6:75918000-75918800	Flanking Bivalent TSS/Enh	Primary T helper naive cells fromperipheralblood	blood
16	chr6:75918000-75918800	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
17	chr6:75918000-75918800	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
18	chr6:75918000-75918800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr6:75918000-75918800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr6:75918000-75918800	Flanking Active TSS	Brain Angular Gyrus	brain
21	chr6:75918000-75918800	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
22	chr6:75918000-75918800	Flanking Active TSS	Stomach Smooth Muscle	stomach
23	chr6:75918000-75918800	Flanking Active TSS	NHDF-Ad	bronchial
24	chr6:75918200-75918800	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
25	chr6:75918200-75918800	Flanking Bivalent TSS/Enh	Primary B cells from cord blood	blood
26	chr6:75918200-75918800	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
27	chr6:75918200-75918800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
28	chr6:75918200-75918800	Flanking Bivalent TSS/Enh	Primary T helper naive cells from peripheral blood	blood
29	chr6:75918200-75918800	Flanking Bivalent TSS/Enh	Primary T helper memory cells from peripheral blood 1	blood
30	chr6:75918200-75918800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr6:75918200-75918800	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr6:75918200-75918800	Flanking Active TSS	Brain Anterior Caudate	brain
33	chr6:75918200-75918800	Flanking Bivalent TSS/Enh	Brain Cingulate Gyrus	brain
34	chr6:75918200-75918800	Active TSS	Colonic Mucosa	Colon
35	chr6:75918200-75918800	Bivalent Enhancer	Fetal Heart	heart
36	chr6:75918200-75918800	Bivalent Enhancer	Stomach Mucosa	stomach
37	chr6:75918200-75918800	Flanking Active TSS	Osteobl	bone
38	chr6:75918400-75918800	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr6:75918400-75918800	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr6:75918400-75918800	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
41	chr6:75918400-75918800	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
42	chr6:75918400-75918800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr6:75918400-75918800	Active TSS	Breast Myoepithelial Primary Cells	Breast
44	chr6:75918400-75918800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr6:75918400-75918800	Flanking Bivalent TSS/Enh	Primary B cells from peripheral blood	blood
46	chr6:75918400-75918800	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood
47	chr6:75918400-75918800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
48	chr6:75918400-75918800	Flanking Bivalent TSS/Enh	Primary T helper memory cells from peripheral blood 2	blood
49	chr6:75918400-75918800	Flanking Bivalent TSS/Enh	Primary T helper 17 cells PMA-I stimulated	--
50	chr6:75918400-75918800	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood

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