Variant report

Variant	rs6684753
Chromosome Location	chr1:92330016-92330017
allele	C/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	KAP1	chr1:92328957-92330455	U2OS	brain:	n/a	n/a
2	CEBPB	chr1:92329676-92330083	Hela-S3	cervix:	n/a	chr1:92329897-92329908
3	POLR2A	chr1:92329631-92330386	MCF10A-Er-Src	breast:	n/a	n/a
4	MYC	chr1:92329665-92330302	MCF10A-Er-Src	breast:	n/a	n/a
5	FOS	chr1:92329091-92330418	MCF10A-Er-Src	breast:	n/a	chr1:92329237-92329249
6	FOXA1	chr1:92329823-92330147	T-47D	breast:	n/a	n/a
7	STAT3	chr1:92329709-92330255	MCF10A-Er-Src	breast:	n/a	chr1:92330011-92330018
8	SPI1	chr1:92329949-92330422	HL-60	blood:	n/a	chr1:92330186-92330199
9	CEBPB	chr1:92329654-92330048	HepG2	liver:	n/a	chr1:92329897-92329908
10	CEBPB	chr1:92329638-92330297	IMR90	lung:	n/a	chr1:92329897-92329908
11	POLR2A	chr1:92329499-92330251	SK-N-MC	brain:	n/a	n/a
12	FOS	chr1:92329723-92330335	MCF10A-Er-Src	breast:	n/a	n/a
13	STAT3	chr1:92329701-92330386	MCF10A-Er-Src	breast:	n/a	chr1:92330011-92330018
14	SPI1	chr1:92329972-92330379	GM12891	blood:	n/a	chr1:92330186-92330199
15	KAP1	chr1:92328827-92330368	HEK293	kidney:	n/a	n/a
16	FOS	chr1:92329664-92330342	MCF10A-Er-Src	breast:	n/a	n/a
17	FOS	chr1:92329135-92330389	MCF10A-Er-Src	breast:	n/a	chr1:92329237-92329249
18	POLR2A	chr1:92329706-92330241	MCF10A-Er-Src	breast:	n/a	n/a
19	STAT3	chr1:92329508-92330114	MCF10A-Er-Src	breast:	n/a	chr1:92330011-92330018
20	TCF7L2	chr1:92329593-92330020	PANC-1	pancreas:	n/a	n/a
21	FOXA1	chr1:92329862-92330051	T-47D	breast:	n/a	n/a
22	SPI1	chr1:92329934-92330364	GM12891	blood:	n/a	chr1:92330186-92330199
23	GATA3	chr1:92329753-92330104	T-47D	breast:	n/a	chr1:92329967-92329975
24	MYC	chr1:92329664-92330441	MCF10A-Er-Src	breast:	n/a	n/a
25	FOXP2	chr1:92329620-92330123	SK-N-MC	brain:	n/a	n/a
26	GATA3	chr1:92329774-92330095	T-47D	breast:	n/a	chr1:92329967-92329975
27	STAT3	chr1:92329719-92330344	MCF10A-Er-Src	breast:	n/a	chr1:92330011-92330018

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:92329344..92331517-chr1:92335405..92337042,2	K562	blood:

Variant related genes	Relation type
TGFBR3	TF binding region

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1017956	0.82[JPT][hapmap]
rs1017957	0.82[JPT][hapmap]
rs10493856	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10783036	0.83[JPT][hapmap]
rs10783037	0.83[JPT][hapmap]
rs10874981	0.82[JPT][hapmap]
rs10875030	0.80[CHB][hapmap]
rs10875033	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10875037	0.85[CHB][hapmap]
rs12124897	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12127774	0.81[CHB][hapmap]
rs12566180	0.85[CHB][hapmap]
rs12736904	0.93[CHB][hapmap]
rs1488691	1.00[CHB][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs2129975	0.82[JPT][hapmap]
rs2479871	0.85[CHB][hapmap]
rs2634031	0.82[JPT][hapmap]
rs2799537	0.81[JPT][hapmap]
rs4658275	0.83[JPT][hapmap]
rs4658278	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6604060	0.85[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs6604061	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs6656018	0.80[CHB][hapmap];0.82[ASN][1000 genomes]
rs6680614	0.85[CHB][hapmap]
rs7533784	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7550028	0.85[CHB][hapmap]
rs9661103	0.90[CHB][hapmap];0.91[JPT][hapmap];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012864	chr1:92067100-92827761	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv535029	chr1:92067100-92827761	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	nsv530438	chr1:92091957-92827760	Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv1010179	chr1:92140209-92655952	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv535030	chr1:92140209-92655952	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
6	nsv1005917	chr1:92189945-92378683	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv949449	chr1:92211020-92585831	Strong transcription Enhancers Genic enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
8	nsv524845	chr1:92215725-92598705	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
9	nsv462517	chr1:92215725-92598705	Weak transcription Bivalent Enhancer Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
10	nsv546810	chr1:92215725-92598705	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
11	nsv1006318	chr1:92216408-92608324	Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
12	nsv432498	chr1:92218245-92618323	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
13	nsv1004570	chr1:92220544-92622129	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
14	nsv1007661	chr1:92220544-92655952	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
15	nsv1014837	chr1:92233905-92618839	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
16	nsv535031	chr1:92233905-92618839	Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
17	nsv1012134	chr1:92235485-92598800	Weak transcription Genic enhancers Flanking Active TSS Active TSS Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
18	nsv546818	chr1:92236048-92579206	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
19	nsv546819	chr1:92256626-92558583	Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
20	nsv546820	chr1:92273644-92558583	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
21	nsv530046	chr1:92277460-92799794	Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
22	nsv1007270	chr1:92289298-92598800	Active TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
23	nsv1002730	chr1:92302541-92565229	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
24	nsv830581	chr1:92317207-92511175	Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:92296400-92335800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr1:92312000-92337200	Weak transcription	Fetal Intestine Small	intestine
3	chr1:92315200-92330200	Weak transcription	Spleen	Spleen
4	chr1:92317400-92337200	Weak transcription	K562	blood
5	chr1:92317400-92338000	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr1:92317400-92344400	Weak transcription	Fetal Intestine Large	intestine
7	chr1:92317600-92335800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr1:92318000-92336800	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr1:92318000-92337000	Weak transcription	Small Intestine	intestine
10	chr1:92320000-92338000	Weak transcription	Lung	lung
11	chr1:92321000-92332200	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr1:92321000-92332800	Weak transcription	Right Ventricle	heart
13	chr1:92321800-92336800	Weak transcription	Right Atrium	heart
14	chr1:92323400-92330200	Weak transcription	Ovary	ovary
15	chr1:92325200-92335800	Weak transcription	Fetal Heart	heart
16	chr1:92326400-92335800	Weak transcription	Primary T helper cells fromperipheralblood	blood
17	chr1:92327200-92335000	Weak transcription	Fetal Muscle Trunk	muscle
18	chr1:92327800-92330600	Enhancers	Adipose Nuclei	Adipose
19	chr1:92328400-92330800	Enhancers	HepG2	liver
20	chr1:92328600-92330600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr1:92328600-92332800	Weak transcription	Esophagus	oesophagus
22	chr1:92329000-92330400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr1:92329000-92330400	Enhancers	Skeletal Muscle Male	skeletal muscle
24	chr1:92329200-92330400	Enhancers	Primary T killer memory cells from peripheral blood	blood
25	chr1:92329400-92330400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr1:92329400-92330400	Enhancers	Duodenum Smooth Muscle	Duodenum
27	chr1:92329400-92330600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
28	chr1:92329400-92330800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr1:92329600-92330200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr1:92329600-92330200	Enhancers	Fetal Stomach	stomach
31	chr1:92329600-92330400	Enhancers	Primary hematopoietic stem cells short term culture	blood
32	chr1:92329600-92330400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
33	chr1:92329600-92330400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr1:92329600-92330400	Enhancers	Left Ventricle	heart
35	chr1:92329600-92330400	Enhancers	HSMM	muscle
36	chr1:92329600-92330400	Flanking Active TSS	Osteobl	bone
37	chr1:92329600-92330600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr1:92329600-92330600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr1:92329600-92330600	Enhancers	Primary T cells fromperipheralblood	blood
40	chr1:92329600-92330600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr1:92329600-92330600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr1:92329600-92330600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr1:92329600-92330600	Enhancers	Placenta	Placenta
44	chr1:92329600-92330600	Enhancers	Stomach Smooth Muscle	stomach
45	chr1:92329600-92330600	Flanking Active TSS	NHEK	skin
46	chr1:92329600-92330600	Enhancers	NHLF	lung
47	chr1:92329600-92330800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr1:92329600-92330800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
49	chr1:92329600-92330800	Enhancers	Fetal Muscle Leg	muscle
50	chr1:92329800-92330200	Enhancers	Primary T helper naive cells from peripheral blood	blood

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