Variant report

Variant	rs12776236
Chromosome Location	chr10:21789406-21789407
allele	A/C
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	POLR2A	chr10:21787706-21789699	H1-neurons	neurons:	n/a	n/a
2	SP4	chr10:21789277-21789754	H1-hESC	embryonic stem cell:	n/a	chr10:21789649-21789660
3	TAF1	chr10:21789240-21789713	H1-hESC	embryonic stem cell:	n/a	n/a
4	CTCF	chr10:21789289-21789426	GM12878	blood:	n/a	n/a
5	MAX	chr10:21789185-21789855	H1-hESC	embryonic stem cell:	n/a	n/a
6	E2F6	chr10:21789140-21789680	H1-hESC	embryonic stem cell:	n/a	chr10:21789446-21789453 chr10:21789417-21789431 chr10:21789446-21789453 chr10:21789445-21789453 chr10:21789446-21789453
7	CTCF	chr10:21789280-21789430	GM12871	blood:	n/a	n/a
8	POLR2A	chr10:21787952-21789890	H1-neurons	neurons:	n/a	n/a
9	POLR2A	chr10:21789081-21789842	H1-hESC	embryonic stem cell:	n/a	n/a
10	RAD21	chr10:21789217-21790064	H1-hESC	embryonic stem cell:	n/a	n/a
11	CTCF	chr10:21789340-21789490	HPF	lung:	n/a	n/a
12	CTCF	chr10:21789300-21789450	HRPEpiC	eye:	n/a	n/a
13	TBP	chr10:21789009-21789738	H1-hESC	embryonic stem cell:	n/a	n/a
14	CTCF	chr10:21789260-21789410	GM12874	blood:	n/a	chr10:21789270-21789283
15	GABPA	chr10:21789123-21789796	H1-hESC	embryonic stem cell:	n/a	n/a
16	SP1	chr10:21789343-21789916	H1-hESC	embryonic stem cell:	n/a	chr10:21789650-21789659 chr10:21789546-21789555 chr10:21789748-21789757 chr10:21789649-21789661 chr10:21789545-21789554 chr10:21789747-21789756 chr10:21789649-21789660 chr10:21789650-21789660 chr10:21789645-21789659 chr10:21789649-21789661 chr10:21789651-21789660 chr10:21789747-21789756 chr10:21789746-21789758
17	CHD2	chr10:21789233-21789927	H1-hESC	embryonic stem cell:	n/a	n/a
18	POLR2A	chr10:21789268-21789709	H1-hESC	embryonic stem cell:	n/a	n/a
19	CTCF	chr10:21789280-21789430	HCPEpiC	choroid plexus:	n/a	n/a
20	CTCF	chr10:21789300-21789450	HRE	kidney:	n/a	n/a
21	CTBP2	chr10:21788678-21790153	H1-hESC	embryonic stem cell:	n/a	n/a
22	E2F6	chr10:21788617-21789735	H1-hESC	embryonic stem cell:	n/a	chr10:21789107-21789116 chr10:21789446-21789453 chr10:21789417-21789431 chr10:21789446-21789453 chr10:21789037-21789044 chr10:21789445-21789453 chr10:21789446-21789453
23	ELF1	chr10:21788926-21789790	GM12878	blood:	n/a	chr10:21789463-21789475 chr10:21789408-21789420 chr10:21789543-21789555
24	MAX	chr10:21789190-21789851	H1-hESC	embryonic stem cell:	n/a	n/a
25	SIN3A	chr10:21788046-21789654	H1-hESC	embryonic stem cell:	n/a	chr10:21788698-21788707 chr10:21789314-21789325
26	CTCF	chr10:21789298-21789413	GM12891	blood:	n/a	n/a
27	CHD1	chr10:21789176-21789598	H1-hESC	embryonic stem cell:	n/a	n/a
28	RAD21	chr10:21789074-21790286	H1-hESC	embryonic stem cell:	n/a	n/a
29	BACH1	chr10:21788747-21789604	H1-hESC	embryonic stem cell:	n/a	n/a
30	CTCF	chr10:21789280-21789430	HBMEC	blood vessel:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:21789123..21792163-chr10:21802631..21806658,3	MCF-7	breast:
2	chr10:21784183..21786939-chr10:21788486..21790120,2	K562	blood:
3	chr10:21784774..21789957-chr10:21820858..21826220,9	MCF-7	breast:
4	chr10:21783840..21786550-chr10:21787271..21790762,5	MCF-7	breast:
5	chr10:21788304..21789878-chr10:21821429..21823854,2	MCF-7	breast:

Variant related genes	Relation type
CASC10	TF binding region
MIR1915	TF binding region
ENSG00000078403	Chromatin interaction
ENSG00000222071	Chromatin interaction
ENSG00000204682	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs11597384	1.00[CHD][hapmap]
rs2183270	1.00[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv825284	chr10:21739527-21847437	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 gene(s)	inside rSNPs	diseases
2	nsv825285	chr10:21742026-21874334	Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 gene(s)	inside rSNPs	diseases
3	nsv825286	chr10:21757784-21838890	Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 gene(s)	inside rSNPs	diseases
4	nsv825288	chr10:21759085-21831354	Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 gene(s)	inside rSNPs	diseases
5	nsv825289	chr10:21762506-21845875	Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Bivalent Enhancer 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	34 gene(s)	inside rSNPs	diseases
6	nsv527055	chr10:21764019-21822856	Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 gene(s)	inside rSNPs	diseases
7	nsv825290	chr10:21777857-21830878	Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	33 gene(s)	inside rSNPs	diseases
8	nsv894936	chr10:21781589-21827796	Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	33 gene(s)	inside rSNPs	diseases
9	nsv550200	chr10:21782842-21824727	Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	33 gene(s)	inside rSNPs	diseases
10	nsv894937	chr10:21782842-21827796	Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	33 gene(s)	inside rSNPs	diseases
11	nsv517469	chr10:21783634-21822856	Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	33 gene(s)	inside rSNPs	diseases
12	nsv894938	chr10:21784899-21827796	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	33 gene(s)	inside rSNPs	diseases
13	nsv894939	chr10:21789406-21830104	Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:21786600-21791800	Enhancers	Fetal Heart	heart
2	chr10:21786600-21795000	Weak transcription	K562	blood
3	chr10:21788000-21790400	Enhancers	Fetal Lung	lung
4	chr10:21788200-21789600	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
5	chr10:21788200-21789600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr10:21788200-21789600	Flanking Active TSS	Liver	Liver
7	chr10:21788200-21789800	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
8	chr10:21788400-21789600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
9	chr10:21788400-21789800	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr10:21788400-21794600	Weak transcription	A549	lung
11	chr10:21788600-21789600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
12	chr10:21788600-21789600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
13	chr10:21788600-21789600	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
14	chr10:21788600-21789600	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
15	chr10:21788600-21789600	Enhancers	Spleen	Spleen
16	chr10:21788600-21789600	Weak transcription	HepG2	liver
17	chr10:21788600-21789600	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
18	chr10:21788600-21789800	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr10:21788600-21789800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
20	chr10:21788600-21789800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
21	chr10:21788600-21789800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
22	chr10:21788600-21789800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
23	chr10:21788600-21789800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr10:21788600-21789800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr10:21788600-21789800	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
26	chr10:21788800-21789600	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr10:21788800-21789600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
28	chr10:21788800-21789600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
29	chr10:21788800-21789600	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
30	chr10:21788800-21789600	Flanking Active TSS	Primary hematopoietic stem cells	blood
31	chr10:21788800-21789600	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
32	chr10:21788800-21789600	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
33	chr10:21788800-21789600	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
34	chr10:21788800-21789600	Bivalent/Poised TSS	Fetal Intestine Large	intestine
35	chr10:21788800-21789600	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
36	chr10:21788800-21789600	Active TSS	Psoas Muscle	Psoas
37	chr10:21788800-21789600	Active TSS	Right Atrium	heart
38	chr10:21788800-21789600	Active TSS	Right Ventricle	heart
39	chr10:21788800-21789800	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
40	chr10:21788800-21789800	Bivalent Enhancer	Fetal Brain Male	brain
41	chr10:21788800-21789800	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
42	chr10:21788800-21789800	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
43	chr10:21789000-21789600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr10:21789000-21789600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
45	chr10:21789000-21789600	Bivalent/Poised TSS	Brain Germinal Matrix	brain
46	chr10:21789000-21789600	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
47	chr10:21789000-21789600	Bivalent Enhancer	HUVEC	blood vessel
48	chr10:21789000-21789800	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr10:21789000-21789800	Flanking Active TSS	Placenta	Placenta
50	chr10:21789200-21789600	Bivalent/Poised TSS	Primary T cells from cord blood	blood

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