Variant report

Variant	rs10279469
Chromosome Location	chr7:100655538-100655539
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	CTCF	chr7:100655522-100655567	LNCaP	prostate:	n/a	n/a
2	USF1	chr7:100655331-100655574	H1-hESC	embryonic stem cell:	n/a	chr7:100655472-100655483
3	RAD21	chr7:100655362-100655603	H1-hESC	embryonic stem cell:	n/a	n/a
4	USF1	chr7:100655387-100655553	HepG2	liver:	n/a	chr7:100655472-100655483
5	CTCF	chr7:100655394-100655647	GM12878	blood:	n/a	n/a
6	CTCF	chr7:100655501-100655581	MCF-7	breast:	n/a	n/a
7	CTCF	chr7:100655515-100655574	MCF-7	breast:	n/a	n/a
8	USF1	chr7:100655330-100655610	K562	blood:	n/a	chr7:100655472-100655483
9	CTCF	chr7:100655520-100655549	GM12892	blood:	n/a	n/a
10	CTCF	chr7:100655481-100655577	MCF-7	breast:	n/a	n/a
11	USF1	chr7:100655383-100655591	H1-hESC	embryonic stem cell:	n/a	chr7:100655472-100655483
12	CTCF	chr7:100655511-100655572	MCF-7	breast:	n/a	n/a
13	CTCF	chr7:100655495-100655553	GM19239	blood:	n/a	n/a
14	MYC	chr7:100655463-100655609	NB4	blood:	n/a	chr7:100655472-100655482
15	MAX	chr7:100655406-100655574	NB4	blood:	n/a	chr7:100655472-100655482
16	MAX	chr7:100655370-100655689	K562	blood:	n/a	chr7:100655472-100655482
17	CTCF	chr7:100655480-100655630	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:100648211..100651401-chr7:100653251..100655813,3	K562	blood:

Variant related genes	Relation type
MUC12	TF binding region

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10224903	1.00[YRI][hapmap]
rs10244048	1.00[ASW][hapmap]
rs10244973	1.00[AFR][1000 genomes]
rs10249439	1.00[AFR][1000 genomes]
rs10254720	1.00[YRI][hapmap]
rs9656065	1.00[ASW][hapmap];1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1832517	chr7:100355490-100749246	Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	esv2758125	chr7:100355490-100749246	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
3	esv2759547	chr7:100355490-100749246	Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
4	esv1826021	chr7:100525848-100749246	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	esv1846644	chr7:100525848-100749246	Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
6	esv1822460	chr7:100606044-100749246	Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
7	nsv427796	chr7:100606044-100749246	Strong transcription Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
8	nsv428181	chr7:100606044-100749246	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
9	nsv831074	chr7:100606051-100745532	Bivalent Enhancer Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
10	nsv1031942	chr7:100606734-100788660	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer 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 miRNA target site	36 gene(s)	inside rSNPs	diseases
11	esv1836983	chr7:100630638-100669857	Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
12	nsv820330	chr7:100630947-100656356	Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
13	esv1833777	chr7:100632790-100800131	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
14	esv1849981	chr7:100633668-100686761	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
15	esv1828583	chr7:100652181-100676353	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
16	esv1823966	chr7:100652181-100693849	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100635400-100660000	Weak transcription	Gastric	stomach
2	chr7:100635800-100660000	Weak transcription	Rectal Smooth Muscle	rectum
3	chr7:100635800-100660200	Weak transcription	Right Atrium	heart
4	chr7:100647800-100659000	Strong transcription	Rectal Mucosa Donor 29	rectum
5	chr7:100647800-100660200	Strong transcription	Rectal Mucosa Donor 31	rectum
6	chr7:100648800-100659000	Weak transcription	Spleen	Spleen
7	chr7:100650000-100657000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr7:100651000-100657000	Weak transcription	Fetal Stomach	stomach
9	chr7:100651000-100658800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr7:100651400-100657000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr7:100651600-100660000	Strong transcription	Sigmoid Colon	Sigmoid Colon
12	chr7:100652000-100659200	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr7:100652200-100658800	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr7:100652400-100656000	Weak transcription	Ovary	ovary
15	chr7:100652600-100660000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr7:100653000-100655600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr7:100653400-100659800	Weak transcription	NHLF	lung
18	chr7:100653600-100659000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr7:100653600-100659200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr7:100653800-100656000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr7:100653800-100660000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr7:100653800-100660000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr7:100654000-100658600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr7:100654200-100658800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr7:100654200-100659800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr7:100654400-100657600	Strong transcription	Placenta Amnion	Placenta Amnion
27	chr7:100654400-100658800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr7:100654400-100659200	Weak transcription	Primary T helper cells fromperipheralblood	blood
29	chr7:100654800-100655800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr7:100655000-100655800	Strong transcription	HUES48 Cell Line	embryonic stem cell
31	chr7:100655000-100657200	Strong transcription	HUES6 Cell Line	embryonic stem cell
32	chr7:100655200-100658800	Weak transcription	GM12878-XiMat	blood
33	chr7:100655200-100659800	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr7:100655400-100656200	Strong transcription	Duodenum Mucosa	Duodenum
35	chr7:100655400-100657200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr7:100655400-100657600	Strong transcription	Fetal Intestine Small	intestine
37	chr7:100655400-100659600	Strong transcription	Colonic Mucosa	Colon

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