Variant report

Variant	rs13201278
Chromosome Location	chr6:75915157-75915158
allele	A/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	SIN3A	chr6:75914571-75916383	H1-hESC	embryonic stem cell:	n/a	chr6:75915523-75915536 chr6:75915628-75915641 chr6:75916369-75916380
2	RAD21	chr6:75914685-75915434	Hela-S3	cervix:	n/a	n/a
3	TCF12	chr6:75914847-75916301	ECC-1	luminal epithelium:	n/a	chr6:75915154-75915164 chr6:75915548-75915558
4	CTCF	chr6:75915140-75915290	HMEC	breast:	n/a	n/a
5	MAX	chr6:75914898-75916120	A549	lung:	n/a	n/a
6	MAX	chr6:75914851-75916087	Hela-S3	cervix:	n/a	n/a
7	KAP1	chr6:75915007-75916045	HEK293	kidney:	n/a	n/a
8	SMC3	chr6:75913424-75916272	Hela-S3	cervix:	n/a	n/a
9	SUZ12	chr6:75913908-75917770	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr6:75914545-75916013	Hela-S3	cervix:	n/a	n/a
11	MAX	chr6:75914811-75916191	A549	lung:	n/a	n/a
12	MAZ	chr6:75913538-75917088	IMR90	lung:	n/a	chr6:75914516-75914523
13	TAF1	chr6:75914874-75915248	H1-hESC	embryonic stem cell:	n/a	n/a
14	BCL3	chr6:75915076-75915427	A549	lung:	n/a	chr6:75915099-75915112 chr6:75915098-75915107
15	SMARCC1	chr6:75913598-75916305	Hela-S3	cervix:	n/a	n/a
16	TEAD4	chr6:75914784-75916251	ECC-1	luminal epithelium:	n/a	n/a
17	TCF12	chr6:75914891-75916240	ECC-1	luminal epithelium:	n/a	chr6:75915154-75915164 chr6:75915548-75915558
18	JUND	chr6:75913923-75916368	H1-hESC	embryonic stem cell:	n/a	chr6:75915979-75915988 chr6:75914588-75914597
19	KAP1	chr6:75914626-75915258	U2OS	brain:	n/a	n/a
20	TCF7L2	chr6:75913564-75916132	Hela-S3	cervix:	n/a	n/a
21	TBP	chr6:75914922-75915388	Hela-S3	cervix:	n/a	n/a
22	RFX5	chr6:75914821-75916184	Hela-S3	cervix:	n/a	n/a
23	CTCF	chr6:75915100-75915250	HCPEpiC	choroid plexus:	n/a	n/a
24	SUZ12	chr6:75913870-75918221	NT2-D1	testis:	n/a	n/a
25	CEBPB	chr6:75914957-75916122	Hela-S3	cervix:	n/a	n/a
26	MAX	chr6:75914258-75916158	ECC-1	luminal epithelium:	n/a	chr6:75914516-75914523
27	TEAD4	chr6:75914842-75915333	H1-hESC	embryonic stem cell:	n/a	n/a
28	CTCF	chr6:75915075-75915207	NHEK	skin:	n/a	n/a
29	MAFK	chr6:75914930-75916342	IMR90	lung:	n/a	n/a
30	POLR2A	chr6:75913472-75916719	IMR90	lung:	n/a	n/a
31	CTCF	chr6:75915120-75915270	HRE	kidney:	n/a	n/a
32	SMARCB1	chr6:75914038-75916101	Hela-S3	cervix:	n/a	n/a
33	POLR2A	chr6:75913849-75916126	ProgFib	skin:	n/a	n/a
34	CTCF	chr6:75915040-75915190	HA-sp	spinal cord:	n/a	n/a
35	BRCA1	chr6:75914670-75915267	Hela-S3	cervix:	n/a	n/a
36	CTCF	chr6:75915040-75915190	HCPEpiC	choroid plexus:	n/a	n/a
37	MYC	chr6:75915035-75916071	MCF10A-Er-Src	breast:	n/a	n/a
38	YY1	chr6:75915052-75915332	HCT-116	colon:	n/a	chr6:75915096-75915105 chr6:75915096-75915107
39	HDAC2	chr6:75914862-75916192	MCF-7	breast:	n/a	n/a
40	POLR2A	chr6:75914858-75917612	H1-neurons	neurons:	n/a	n/a
41	HA-E2F1	chr6:75915059-75916321	MCF-7	breast:	n/a	chr6:75915980-75915992 chr6:75915980-75915989 chr6:75915682-75915691
42	GTF2F1	chr6:75914889-75916339	Hela-S3	cervix:	n/a	n/a
43	ZBTB7A	chr6:75914031-75915208	ECC-1	luminal epithelium:	n/a	chr6:75914429-75914438
44	TCF12	chr6:75914960-75916173	A549	lung:	n/a	chr6:75915154-75915164 chr6:75915548-75915558
45	MAZ	chr6:75914867-75916188	Hela-S3	cervix:	n/a	n/a
46	YY1	chr6:75914753-75915255	H1-hESC	embryonic stem cell:	n/a	chr6:75915096-75915105 chr6:75915096-75915107
47	MAX	chr6:75914860-75916136	ECC-1	luminal epithelium:	n/a	n/a
48	MXI1	chr6:75913287-75916865	IMR90	lung:	n/a	n/a
49	BACH1	chr6:75913937-75916032	H1-hESC	embryonic stem cell:	n/a	n/a
50	MAFK	chr6:75915084-75916076	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:75608999..75611267-chr6:75912636..75915418,2	MCF-7	breast:
2	chr6:75910258..75913298-chr6:75914127..75916730,7	MCF-7	breast:
3	chr6:74229352..74231539-chr6:75915151..75917818,2	MCF-7	breast:
4	chr6:75861359..75863350-chr6:75912949..75915219,2	MCF-7	breast:

Variant related genes	Relation type
COL12A1	TF binding region
ENSG00000156508	Chromatin interaction
ENSG00000111799	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs13193201	1.00[ASW][hapmap];0.87[CEU][hapmap];1.00[GIH][hapmap];0.92[TSI][hapmap]
rs13198000	1.00[ASW][hapmap];0.87[CEU][hapmap];1.00[GIH][hapmap];0.92[TSI][hapmap]
rs13211961	1.00[GIH][hapmap];0.92[TSI][hapmap]
rs13213719	1.00[ASW][hapmap];1.00[GIH][hapmap];0.92[TSI][hapmap]
rs13214997	1.00[ASW][hapmap];1.00[GIH][hapmap];0.92[TSI][hapmap]
rs13217015	0.87[CEU][hapmap]
rs13217241	0.87[CEU][hapmap]
rs13217398	0.87[CEU][hapmap]
rs240374	0.84[TSI][hapmap]
rs35116474	1.00[AMR][1000 genomes]
rs7741596	1.00[GIH][hapmap];0.84[TSI][hapmap]

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:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:75908400-75915400	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr6:75911800-75916400	Active TSS	HSMMtube	muscle
3	chr6:75912800-75916200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr6:75912800-75916600	Active TSS	Ovary	ovary
5	chr6:75913000-75916600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr6:75913000-75918400	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
7	chr6:75913200-75916400	Active TSS	NHLF	lung
8	chr6:75913400-75916600	Active TSS	Breast Myoepithelial Primary Cells	Breast
9	chr6:75913600-75916600	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
10	chr6:75913600-75917200	Active TSS	NHDF-Ad	bronchial
11	chr6:75913600-75917400	Bivalent/Poised TSS	Fetal Kidney	kidney
12	chr6:75913600-75918400	Active TSS	Rectal Smooth Muscle	rectum
13	chr6:75913800-75915200	Bivalent Enhancer	Liver	Liver
14	chr6:75913800-75915200	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
15	chr6:75913800-75915400	Active TSS	Right Ventricle	heart
16	chr6:75913800-75916000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr6:75913800-75916200	Active TSS	NHEK	skin
18	chr6:75913800-75916400	Active TSS	Colon Smooth Muscle	Colon
19	chr6:75913800-75916600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr6:75913800-75917200	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
21	chr6:75913800-75917600	Active TSS	Placenta Amnion	Placenta Amnion
22	chr6:75913800-75918000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
23	chr6:75913800-75918400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
24	chr6:75913800-75918600	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
25	chr6:75913800-75918800	Active TSS	Right Atrium	heart
26	chr6:75914000-75915600	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
27	chr6:75914000-75916000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr6:75914000-75916000	Active TSS	Hela-S3	cervix
29	chr6:75914000-75916200	Active TSS	Muscle Satellite Cultured Cells	--
30	chr6:75914000-75916200	Active TSS	HMEC	breast
31	chr6:75914000-75916200	Active TSS	HSMM	muscle
32	chr6:75914000-75916200	Active TSS	NH-A	brain
33	chr6:75914000-75916200	Active TSS	Osteobl	bone
34	chr6:75914000-75916400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
35	chr6:75914000-75916400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr6:75914000-75916600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
37	chr6:75914000-75918800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr6:75914200-75915200	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr6:75914200-75915400	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
40	chr6:75914200-75915400	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
41	chr6:75914200-75915400	Flanking Bivalent TSS/Enh	Brain Cingulate Gyrus	brain
42	chr6:75914200-75915400	Bivalent/Poised TSS	Colonic Mucosa	Colon
43	chr6:75914200-75915400	Flanking Bivalent TSS/Enh	Fetal Lung	lung
44	chr6:75914200-75915400	Bivalent/Poised TSS	Sigmoid Colon	Sigmoid Colon
45	chr6:75914200-75915400	Bivalent/Poised TSS	Stomach Mucosa	stomach
46	chr6:75914200-75915600	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
47	chr6:75914200-75915600	Bivalent Enhancer	Placenta	Placenta
48	chr6:75914200-75915800	Flanking Bivalent TSS/Enh	Brain Anterior Caudate	brain
49	chr6:75914200-75916000	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr6:75914200-75916000	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet

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