Variant report

Variant	rs550179581
Chromosome Location	chr2:111877530-111877531
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	E2F6	chr2:111877408-111879340	K562	blood:	n/a	chr2:111878414-111878423 chr2:111877747-111877759 chr2:111877478-111877490 chr2:111878679-111878691 chr2:111877963-111877973 chr2:111878285-111878294 chr2:111878171-111878181
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	CTCF	chr2:111877440-111877590	HRE	kidney:	n/a	n/a
4	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
5	TCF12	chr2:111877517-111879634	ECC-1	luminal epithelium:	n/a	n/a
6	SUZ12	chr2:111874709-111878454	NT2-D1	testis:	n/a	n/a
7	POLR2A	chr2:111877432-111881054	K562	blood:	n/a	n/a
8	SMARCB1	chr2:111877080-111881031	Hela-S3	cervix:	n/a	n/a
9	MYC	chr2:111877505-111879474	K562	blood:	n/a	chr2:111878235-111878244 chr2:111878233-111878243 chr2:111878683-111878693 chr2:111879218-111879227
10	MAZ	chr2:111877230-111879730	GM12878	blood:	n/a	chr2:111878235-111878244 chr2:111878683-111878693 chr2:111877479-111877489 chr2:111879218-111879227
11	SUZ12	chr2:111875129-111878150	H1-hESC	embryonic stem cell:	n/a	n/a
12	MXI1	chr2:111877406-111881885	SK-N-SH	brain:	n/a	n/a
13	E2F6	chr2:111877377-111879315	H1-hESC	embryonic stem cell:	n/a	chr2:111878414-111878423 chr2:111877747-111877759 chr2:111877478-111877490 chr2:111878679-111878691 chr2:111877963-111877973 chr2:111878285-111878294 chr2:111878171-111878181
14	BHLHE40	chr2:111877526-111880906	K562	blood:	n/a	chr2:111878164-111878180 chr2:111878158-111878174 chr2:111879083-111879099 chr2:111878389-111878405 chr2:111880077-111880093 chr2:111878166-111878182 chr2:111879143-111879159
15	CTBP2	chr2:111874524-111881050	H1-hESC	embryonic stem cell:	n/a	n/a
16	YY1	chr2:111877438-111877783	GM12892	blood:	n/a	chr2:111877482-111877493
17	SPI1	chr2:111877518-111877889	GM12878	blood:	n/a	chr2:111877715-111877724
18	POLR2A	chr2:111877091-111880269	Raji	blood:	n/a	n/a
19	YY1	chr2:111877433-111877890	GM12878	blood:	n/a	chr2:111877482-111877493
20	TBP	chr2:111877514-111879307	H1-hESC	embryonic stem cell:	n/a	n/a
21	CTCF	chr2:111877460-111877610	GM12873	blood:	n/a	n/a
22	ZNF263	chr2:111877354-111881804	HEK293-T-REx	kidney:	n/a	chr2:111877488-111877497
23	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
24	CTCF	chr2:111877501-111877647	GM19238	blood:	n/a	n/a
25	CTCF	chr2:111877520-111877670	GM12864	blood:	n/a	n/a
26	MAX	chr2:111877492-111881095	K562	blood:	n/a	chr2:111878235-111878244 chr2:111878233-111878243 chr2:111878683-111878693 chr2:111879218-111879227
27	CTCF	chr2:111877517-111877590	GM19240	blood:	n/a	n/a
28	E2F6	chr2:111877476-111878575	A549	lung:	n/a	chr2:111878414-111878423 chr2:111877747-111877759 chr2:111877478-111877490 chr2:111877963-111877973 chr2:111878285-111878294 chr2:111878171-111878181
29	CTCF	chr2:111877514-111877616	GM12892	blood:	n/a	n/a
30	CTCF	chr2:111877516-111881134	SK-N-SH	brain:	n/a	chr2:111878977-111878985 chr2:111878831-111878849 chr2:111878899-111878912 chr2:111879124-111879137 chr2:111878244-111878257 chr2:111877890-111877903
31	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
32	SPI1	chr2:111877375-111878117	GM12878	blood:	n/a	chr2:111877715-111877724
33	CTCF	chr2:111877387-111878621	GM12878	blood:	n/a	chr2:111878244-111878257 chr2:111877890-111877903
34	POLR2A	chr2:111877337-111877549	HepG2	liver:	n/a	n/a
35	ZNF143	chr2:111877485-111878961	GM12878	blood:	n/a	chr2:111878773-111878791 chr2:111878468-111878486
36	CUX1	chr2:111877475-111877724	GM12878	blood:	n/a	n/a
37	SETDB1	chr2:111877501-111878459	K562	blood:	n/a	n/a
38	RFX5	chr2:111877530-111877629	GM12878	blood:	n/a	n/a
39	POLR2A	chr2:111877496-111879539	GM19099	blood:	n/a	n/a
40	MYC	chr2:111877452-111881079	NB4	blood:	n/a	chr2:111878235-111878244 chr2:111878233-111878243 chr2:111878683-111878693 chr2:111877479-111877489 chr2:111879218-111879227
41	MAX	chr2:111877351-111880490	GM12878	blood:	n/a	chr2:111878235-111878244 chr2:111878233-111878243 chr2:111878683-111878693 chr2:111877479-111877489 chr2:111879218-111879227
42	HA-E2F1	chr2:111877485-111881176	MCF-7	breast:	n/a	chr2:111878414-111878423 chr2:111880549-111880558 chr2:111880095-111880104 chr2:111877747-111877759 chr2:111878679-111878691 chr2:111877963-111877973 chr2:111881147-111881164 chr2:111880318-111880330 chr2:111878285-111878294 chr2:111878171-111878181 chr2:111878291-111878302 chr2:111880053-111880060
43	POLR2A	chr2:111876805-111879414	GM12878	blood:	n/a	n/a
44	CTCF	chr2:111877511-111877581	GM19239	blood:	n/a	n/a
45	TCF12	chr2:111877528-111878670	MCF-7	breast:	n/a	n/a
46	MAX	chr2:111877521-111881077	HCT-116	colon:	n/a	chr2:111878235-111878244 chr2:111878233-111878243 chr2:111878683-111878693 chr2:111879218-111879227
47	ZNF384	chr2:111877473-111878232	GM12878	blood:	n/a	n/a
48	MAX	chr2:111877482-111881184	A549	lung:	n/a	chr2:111878235-111878244 chr2:111878233-111878243 chr2:111878683-111878693 chr2:111879218-111879227
49	CTCF	chr2:111877440-111877590	GM12878	blood:	n/a	n/a
50	MAX	chr2:111877489-111878480	H1-hESC	embryonic stem cell:	n/a	chr2:111878235-111878244 chr2:111878233-111878243

No.	Distal block	Cell Line	Cell type
1	chr2:111869458..111872537-chr2:111876483..111880583,5	MCF-7	breast:
2	chr2:111877393..111879713-chr2:112235053..112237981,2	K562	blood:
3	chr2:111875880..111877905-chr2:111996338..111997967,2	K562	blood:
4	chr2:111876826..111879311-chr2:111966028..111968773,2	K562	blood:
5	chr12:28120103..28122878-chr2:111877498..111879183,2	MCF-7	breast:

Variant related genes	Relation type
BCL2L11	TF binding region
ENSG00000204581	TF binding region
ENSG00000172965	Chromatin interaction
ENSG00000087494	Chromatin interaction
ENSG00000204581	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:113 , 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	chr2:111874800-111877600	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
9	chr2:111874800-111878000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
10	chr2:111874800-111878000	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
11	chr2:111874800-111878000	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
12	chr2:111874800-111878000	Flanking Bivalent TSS/Enh	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr2:111874800-111878000	Flanking Bivalent TSS/Enh	Thymus	Thymus
14	chr2:111874800-111878200	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
15	chr2:111874800-111878200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr2:111874800-111878200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr2:111874800-111878200	Flanking Active TSS	Adipose Nuclei	Adipose
18	chr2:111874800-111878200	Flanking Active TSS	Right Ventricle	heart
19	chr2:111874800-111879600	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr2:111874800-111880000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
21	chr2:111875000-111877800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
22	chr2:111875000-111878000	Flanking Bivalent TSS/Enh	Primary B cells from peripheral blood	blood
23	chr2:111875000-111878200	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr2:111875200-111877600	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr2:111875200-111878200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
26	chr2:111875200-111878200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr2:111875200-111878200	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
28	chr2:111875200-111880000	Bivalent Enhancer	Fetal Brain Male	brain
29	chr2:111875400-111877800	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood
30	chr2:111875400-111878000	Weak transcription	Aorta	Aorta
31	chr2:111875400-111878000	Bivalent Enhancer	Fetal Lung	lung
32	chr2:111875600-111877800	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr2:111875600-111877800	Weak transcription	Ovary	ovary
34	chr2:111875600-111877800	Weak transcription	HSMMtube	muscle
35	chr2:111875600-111878000	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
36	chr2:111875600-111880000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
37	chr2:111875600-111881200	Active TSS	Psoas Muscle	Psoas
38	chr2:111875800-111877600	Weak transcription	HSMM	muscle
39	chr2:111876000-111877800	Flanking Bivalent TSS/Enh	Placenta	Placenta
40	chr2:111876000-111878000	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
41	chr2:111876200-111877800	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
42	chr2:111876200-111877800	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 29	rectum
43	chr2:111876200-111878200	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr2:111876200-111880000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr2:111876400-111877600	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr2:111876400-111877600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr2:111876400-111877600	Enhancers	Esophagus	oesophagus
48	chr2:111876400-111877600	Weak transcription	A549	lung
49	chr2:111876400-111877600	Weak transcription	Hela-S3	cervix
50	chr2:111876400-111877800	Enhancers	Lung	lung

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