Variant report

Variant	rs575790002
Chromosome Location	chr2:111877829-111877830
allele	G/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	POLR2A	chr2:111877810-111878697	A549	lung:	n/a	n/a
2	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
3	MYBL2	chr2:111877719-111878714	HepG2	liver:	n/a	n/a
4	ELK1	chr2:111877644-111877994	GM12878	blood:	n/a	n/a
5	MAX	chr2:111877563-111881015	NB4	blood:	n/a	chr2:111878235-111878244 chr2:111878233-111878243 chr2:111878683-111878693 chr2:111879218-111879227
6	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
7	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
8	POLR2A	chr2:111877782-111879129	MCF-7	breast:	n/a	n/a
9	MAX	chr2:111877825-111879196	SK-N-SH	brain:	n/a	chr2:111878235-111878244 chr2:111878233-111878243 chr2:111878683-111878693
10	TCF12	chr2:111877680-111880212	A549	lung:	n/a	n/a
11	SIN3AK20	chr2:111877611-111881217	MCF-7	breast:	n/a	n/a
12	TCF12	chr2:111877517-111879634	ECC-1	luminal epithelium:	n/a	n/a
13	EBF1	chr2:111877547-111877924	GM12878	blood:	n/a	n/a
14	NR2F2	chr2:111877591-111878775	MCF-7	breast:	n/a	n/a
15	POLR2A	chr2:111877806-111880414	GM12878	blood:	n/a	n/a
16	E2F6	chr2:111877661-111877922	K562	blood:	n/a	chr2:111877747-111877759
17	POLR2A	chr2:111877738-111878830	K562	blood:	n/a	n/a
18	SUZ12	chr2:111874709-111878454	NT2-D1	testis:	n/a	n/a
19	STAT1	chr2:111877756-111878558	GM12878	blood:	n/a	n/a
20	MAX	chr2:111877542-111881163	HepG2	liver:	n/a	chr2:111878235-111878244 chr2:111878233-111878243 chr2:111878683-111878693 chr2:111879218-111879227
21	POLR2A	chr2:111877432-111881054	K562	blood:	n/a	n/a
22	HDAC2	chr2:111877619-111878541	HepG2	liver:	n/a	chr2:111877674-111877688 chr2:111877675-111877689
23	GATA3	chr2:111877704-111879021	A549	lung:	n/a	n/a
24	MAX	chr2:111877713-111879368	A549	lung:	n/a	chr2:111878235-111878244 chr2:111878233-111878243 chr2:111878683-111878693 chr2:111879218-111879227
25	SMARCB1	chr2:111877080-111881031	Hela-S3	cervix:	n/a	n/a
26	POLR2A	chr2:111877652-111881216	H1-hESC	embryonic stem cell:	n/a	n/a
27	E2F6	chr2:111877723-111880882	Hela-S3	cervix:	n/a	chr2:111878414-111878423 chr2:111880549-111880558 chr2:111880095-111880104 chr2:111877747-111877759 chr2:111878679-111878691 chr2:111877963-111877973 chr2:111880318-111880330 chr2:111878285-111878294 chr2:111878171-111878181 chr2:111880053-111880060
28	POLR2A	chr2:111877744-111880423	NB4	blood:	n/a	n/a
29	MYC	chr2:111877505-111879474	K562	blood:	n/a	chr2:111878235-111878244 chr2:111878233-111878243 chr2:111878683-111878693 chr2:111879218-111879227
30	TBP	chr2:111877793-111879385	K562	blood:	n/a	n/a
31	MAZ	chr2:111877230-111879730	GM12878	blood:	n/a	chr2:111878235-111878244 chr2:111878683-111878693 chr2:111877479-111877489 chr2:111879218-111879227
32	YY1	chr2:111877574-111878752	HepG2	liver:	n/a	chr2:111878164-111878173 chr2:111878499-111878510 chr2:111878164-111878175 chr2:111878165-111878179 chr2:111878414-111878423 chr2:111878039-111878050 chr2:111878168-111878182 chr2:111878285-111878299 chr2:111878170-111878179 chr2:111878159-111878173 chr2:111878164-111878178
33	SUZ12	chr2:111875129-111878150	H1-hESC	embryonic stem cell:	n/a	n/a
34	UBTF	chr2:111877688-111881146	K562	blood:	n/a	n/a
35	CHD2	chr2:111877705-111879159	Hela-S3	cervix:	n/a	chr2:111878005-111878015 chr2:111878901-111878911
36	MXI1	chr2:111877406-111881885	SK-N-SH	brain:	n/a	n/a
37	YY1	chr2:111877707-111878744	K562	blood:	n/a	chr2:111878164-111878173 chr2:111878499-111878510 chr2:111878164-111878175 chr2:111878165-111878179 chr2:111878414-111878423 chr2:111878039-111878050 chr2:111878168-111878182 chr2:111878285-111878299 chr2:111878170-111878179 chr2:111878159-111878173 chr2:111878164-111878178
38	CHD2	chr2:111877596-111879005	GM12878	blood:	n/a	chr2:111878005-111878015 chr2:111878901-111878911
39	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
40	CBX3	chr2:111877569-111878634	K562	blood:	n/a	n/a
41	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
42	POLR2A	chr2:111877703-111879109	GM12892	blood:	n/a	n/a
43	CTBP2	chr2:111874524-111881050	H1-hESC	embryonic stem cell:	n/a	n/a
44	NR2F2	chr2:111877604-111878060	K562	blood:	n/a	n/a
45	BRCA1	chr2:111877770-111878768	Hela-S3	cervix:	n/a	chr2:111877909-111877918
46	ZBTB7A	chr2:111877698-111878536	K562	blood:	n/a	chr2:111878142-111878151
47	POLR2A	chr2:111877766-111881072	H1-hESC	embryonic stem cell:	n/a	n/a
48	POLR2A	chr2:111877690-111879624	PANC-1	pancreas:	n/a	n/a
49	POLR2A	chr2:111877803-111881080	H1-hESC	embryonic stem cell:	n/a	n/a
50	POLR2A	chr2:111877708-111878782	HepG2	liver:	n/a	n/a

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
ENSG00000204581	TF binding region
BCL2L11	TF binding region
ENSG00000204581	Chromatin interaction
ENSG00000087494	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:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:111874400-111878200	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
2	chr2:111874400-111879800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
3	chr2:111874600-111878000	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
4	chr2:111874600-111878200	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
5	chr2:111874600-111878200	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
6	chr2:111874600-111878400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr2:111874800-111878000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
8	chr2:111874800-111878000	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
9	chr2:111874800-111878000	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
10	chr2:111874800-111878000	Flanking Bivalent TSS/Enh	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr2:111874800-111878000	Flanking Bivalent TSS/Enh	Thymus	Thymus
12	chr2:111874800-111878200	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
13	chr2:111874800-111878200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr2:111874800-111878200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr2:111874800-111878200	Flanking Active TSS	Adipose Nuclei	Adipose
16	chr2:111874800-111878200	Flanking Active TSS	Right Ventricle	heart
17	chr2:111874800-111879600	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr2:111874800-111880000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
19	chr2:111875000-111878000	Flanking Bivalent TSS/Enh	Primary B cells from peripheral blood	blood
20	chr2:111875000-111878200	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr2:111875200-111878200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
22	chr2:111875200-111878200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr2:111875200-111878200	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
24	chr2:111875200-111880000	Bivalent Enhancer	Fetal Brain Male	brain
25	chr2:111875400-111878000	Weak transcription	Aorta	Aorta
26	chr2:111875400-111878000	Bivalent Enhancer	Fetal Lung	lung
27	chr2:111875600-111878000	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
28	chr2:111875600-111880000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
29	chr2:111875600-111881200	Active TSS	Psoas Muscle	Psoas
30	chr2:111876000-111878000	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
31	chr2:111876200-111878200	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr2:111876200-111880000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr2:111876400-111878400	Flanking Active TSS	Primary B cells from cord blood	blood
34	chr2:111876400-111880000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
35	chr2:111876600-111878200	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
36	chr2:111876800-111878000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
37	chr2:111877000-111878000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
38	chr2:111877000-111878200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr2:111877000-111881000	Active TSS	Small Intestine	intestine
40	chr2:111877000-111881400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr2:111877200-111878200	Bivalent/Poised TSS	Osteobl	bone
42	chr2:111877200-111878400	Flanking Active TSS	Primary hematopoietic stem cells	blood
43	chr2:111877200-111879200	Active TSS	Rectal Smooth Muscle	rectum
44	chr2:111877200-111880800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
45	chr2:111877400-111878000	Bivalent/Poised TSS	Primary T killer memory cells from peripheral blood	blood
46	chr2:111877400-111878000	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
47	chr2:111877400-111878000	Flanking Active TSS	Brain Substantia Nigra	brain
48	chr2:111877400-111878000	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
49	chr2:111877400-111878200	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr2:111877400-111879200	Transcr. at gene 5' and 3'	Right Atrium	heart

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