Variant report

Variant	rs561358692
Chromosome Location	chr2:111877360-111877361
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	CTCF	chr2:111877240-111877390	GM12878	blood:	n/a	n/a
2	MAX	chr2:111877317-111879304	H1-hESC	embryonic stem cell:	n/a	chr2:111878235-111878244 chr2:111878233-111878243 chr2:111878683-111878693 chr2:111877479-111877489 chr2:111879218-111879227
3	E2F6	chr2:111876311-111880584	H1-hESC	embryonic stem cell:	n/a	chr2:111876443-111876455 chr2:111878414-111878423 chr2:111880549-111880558 chr2:111880095-111880104 chr2:111877747-111877759 chr2:111877347-111877357 chr2:111876622-111876632 chr2:111877478-111877490 chr2:111878679-111878691 chr2:111877963-111877973 chr2:111880318-111880330 chr2:111878285-111878294 chr2:111878171-111878181 chr2:111880053-111880060
4	SUZ12	chr2:111874709-111878454	NT2-D1	testis:	n/a	n/a
5	SMARCB1	chr2:111877080-111881031	Hela-S3	cervix:	n/a	n/a
6	MAZ	chr2:111877230-111879730	GM12878	blood:	n/a	chr2:111878235-111878244 chr2:111878683-111878693 chr2:111877479-111877489 chr2:111879218-111879227
7	SUZ12	chr2:111875129-111878150	H1-hESC	embryonic stem cell:	n/a	n/a
8	CTBP2	chr2:111874524-111881050	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr2:111877091-111880269	Raji	blood:	n/a	n/a
10	ZNF263	chr2:111877354-111881804	HEK293-T-REx	kidney:	n/a	chr2:111877488-111877497
11	MAX	chr2:111877194-111879416	H1-hESC	embryonic stem cell:	n/a	chr2:111878235-111878244 chr2:111878233-111878243 chr2:111878683-111878693 chr2:111877479-111877489 chr2:111879218-111879227
12	BACH1	chr2:111877266-111877405	H1-hESC	embryonic stem cell:	n/a	n/a
13	E2F6	chr2:111877351-111880996	K562	blood:	n/a	chr2:111878414-111878423 chr2:111880549-111880558 chr2:111880095-111880104 chr2:111877747-111877759 chr2:111877478-111877490 chr2:111878679-111878691 chr2:111877963-111877973 chr2:111880318-111880330 chr2:111878285-111878294 chr2:111878171-111878181 chr2:111880053-111880060
14	POLR2A	chr2:111877337-111877549	HepG2	liver:	n/a	n/a
15	MAX	chr2:111877351-111880490	GM12878	blood:	n/a	chr2:111878235-111878244 chr2:111878233-111878243 chr2:111878683-111878693 chr2:111877479-111877489 chr2:111879218-111879227
16	POLR2A	chr2:111876805-111879414	GM12878	blood:	n/a	n/a
17	CTCF	chr2:111877320-111877470	HUVEC	blood vessel:	n/a	n/a
18	SIN3A	chr2:111876003-111881226	H1-hESC	embryonic stem cell:	n/a	chr2:111879126-111879137 chr2:111878277-111878290 chr2:111879090-111879099 chr2:111879081-111879094 chr2:111876340-111876351 chr2:111880621-111880632 chr2:111878499-111878510 chr2:111880885-111880896
19	HMGN3	chr2:111877270-111881054	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:111869458..111872537-chr2:111876483..111880583,5	MCF-7	breast:
2	chr2:111875880..111877905-chr2:111996338..111997967,2	K562	blood:
3	chr2:111876826..111879311-chr2:111966028..111968773,2	K562	blood:

Variant related genes	Relation type
BCL2L11	TF binding region
ENSG00000204581	TF binding region
ENSG00000204581	Chromatin interaction
ENSG00000172965	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv874838	chr2:111376870-112046226	Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS 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
2	nsv834331	chr2:111812139-112004678	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv874842	chr2:111870220-111892984	Bivalent/Poised TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv829618	chr2:111875627-111881547	Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Enhancers Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
5	esv3338590	chr2:111876081-111880479	Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
6	esv3373707	chr2:111877306-111879854	Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:111874400-111877800	Enhancers	Spleen	Spleen
2	chr2:111874400-111878200	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
3	chr2:111874400-111879800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
4	chr2:111874600-111878000	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
5	chr2:111874600-111878200	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
6	chr2:111874600-111878200	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
7	chr2:111874600-111878400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr2:111874800-111877400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
9	chr2:111874800-111877400	Flanking Bivalent TSS/Enh	Primary T killer naive cells fromperipheralblood	blood
10	chr2:111874800-111877400	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
11	chr2:111874800-111877600	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
12	chr2:111874800-111878000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
13	chr2:111874800-111878000	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
14	chr2:111874800-111878000	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
15	chr2:111874800-111878000	Flanking Bivalent TSS/Enh	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr2:111874800-111878000	Flanking Bivalent TSS/Enh	Thymus	Thymus
17	chr2:111874800-111878200	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
18	chr2:111874800-111878200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr2:111874800-111878200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr2:111874800-111878200	Flanking Active TSS	Adipose Nuclei	Adipose
21	chr2:111874800-111878200	Flanking Active TSS	Right Ventricle	heart
22	chr2:111874800-111879600	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr2:111874800-111880000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
24	chr2:111875000-111877800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
25	chr2:111875000-111878000	Flanking Bivalent TSS/Enh	Primary B cells from peripheral blood	blood
26	chr2:111875000-111878200	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr2:111875200-111877600	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr2:111875200-111878200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
29	chr2:111875200-111878200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr2:111875200-111878200	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
31	chr2:111875200-111880000	Bivalent Enhancer	Fetal Brain Male	brain
32	chr2:111875400-111877400	Weak transcription	HepG2	liver
33	chr2:111875400-111877800	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood
34	chr2:111875400-111878000	Weak transcription	Aorta	Aorta
35	chr2:111875400-111878000	Bivalent Enhancer	Fetal Lung	lung
36	chr2:111875600-111877800	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr2:111875600-111877800	Weak transcription	Ovary	ovary
38	chr2:111875600-111877800	Weak transcription	HSMMtube	muscle
39	chr2:111875600-111878000	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
40	chr2:111875600-111880000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
41	chr2:111875600-111881200	Active TSS	Psoas Muscle	Psoas
42	chr2:111875800-111877400	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
43	chr2:111875800-111877400	Flanking Bivalent TSS/Enh	Primary Natural Killer cells fromperipheralblood	blood
44	chr2:111875800-111877400	Weak transcription	HMEC	breast
45	chr2:111875800-111877600	Weak transcription	HSMM	muscle
46	chr2:111876000-111877800	Flanking Bivalent TSS/Enh	Placenta	Placenta
47	chr2:111876000-111878000	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
48	chr2:111876200-111877400	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr2:111876200-111877400	Bivalent/Poised TSS	Brain Anterior Caudate	brain
50	chr2:111876200-111877800	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain

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