Variant report

Variant	rs532831751
Chromosome Location	chr2:20425603-20425604
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	SIN3A	chr2:20422973-20425643	H1-hESC	embryonic stem cell:	n/a	chr2:20425301-20425312 chr2:20424997-20425010 chr2:20424672-20424683 chr2:20424735-20424748 chr2:20424645-20424656
2	RAD21	chr2:20420269-20426598	SK-N-SH	brain:	n/a	chr2:20422198-20422210 chr2:20424162-20424172 chr2:20425226-20425238 chr2:20423347-20423361
3	EGR1	chr2:20425428-20425631	K562	blood:	n/a	chr2:20425523-20425532 chr2:20425520-20425533
4	NFIC	chr2:20424972-20426031	HepG2	liver:	n/a	n/a
5	EGR1	chr2:20424669-20425725	MCF-7	breast:	n/a	chr2:20424997-20425007 chr2:20424952-20424962 chr2:20424953-20424966 chr2:20425523-20425532 chr2:20424992-20425005 chr2:20425304-20425314 chr2:20425520-20425533
6	POLR2A	chr2:20424370-20425723	MCF-7	breast:	n/a	n/a
7	POLR2A	chr2:20424950-20425955	HepG2	liver:	n/a	n/a
8	MAX	chr2:20425509-20425603	K562	blood:	n/a	n/a
9	ESRRA	chr2:20424274-20426108	GM12878	blood:	n/a	chr2:20425299-20425312 chr2:20425885-20425901
10	ZNF263	chr2:20424394-20426249	HEK293-T-REx	kidney:	n/a	n/a
11	E2F6	chr2:20425590-20425728	K562	blood:	n/a	n/a
12	HNF4G	chr2:20425019-20425976	HepG2	liver:	n/a	chr2:20425615-20425627 chr2:20425808-20425822 chr2:20425809-20425822
13	RAD21	chr2:20424977-20425759	MCF-7	breast:	n/a	chr2:20425226-20425238
14	TAF1	chr2:20424959-20425806	H1-hESC	embryonic stem cell:	n/a	n/a
15	MAX	chr2:20422503-20426249	HepG2	liver:	n/a	chr2:20423191-20423198 chr2:20424483-20424490 chr2:20423189-20423200 chr2:20424338-20424348 chr2:20423190-20423199 chr2:20423540-20423550 chr2:20423190-20423200 chr2:20424526-20424536 chr2:20423189-20423199
16	POLR2A	chr2:20422936-20425902	MCF-7	breast:	n/a	n/a
17	RAD21	chr2:20424784-20425815	HCT-116	colon:	n/a	chr2:20425226-20425238
18	ZNF143	chr2:20425130-20425846	H1-hESC	embryonic stem cell:	n/a	n/a
19	NR2F2	chr2:20424957-20426048	MCF-7	breast:	n/a	n/a
20	HNF4A	chr2:20425581-20425947	HepG2	liver:	n/a	chr2:20425615-20425627 chr2:20425808-20425822 chr2:20425809-20425822
21	YY1	chr2:20425564-20426061	HepG2	liver:	n/a	chr2:20425836-20425844 chr2:20425825-20425847
22	GTF2F1	chr2:20425270-20425831	H1-hESC	embryonic stem cell:	n/a	n/a
23	CTCF	chr2:20425520-20425670	HFF-Myc	foreskin:	n/a	n/a
24	HDAC2	chr2:20422965-20425963	HepG2	liver:	n/a	n/a
25	MYBL2	chr2:20424962-20425949	HepG2	liver:	n/a	n/a
26	MAX	chr2:20424253-20425899	MCF-7	breast:	n/a	chr2:20424483-20424490 chr2:20424338-20424348 chr2:20424526-20424536
27	MAX	chr2:20423554-20425885	ECC-1	luminal epithelium:	n/a	chr2:20424483-20424490 chr2:20424338-20424348 chr2:20424526-20424536
28	RAD21	chr2:20425007-20425711	GM12878	blood:	n/a	chr2:20425226-20425238
29	YY1	chr2:20425465-20426067	H1-hESC	embryonic stem cell:	n/a	chr2:20425836-20425844 chr2:20425825-20425847
30	BACH1	chr2:20425034-20425769	H1-hESC	embryonic stem cell:	n/a	n/a
31	ZBTB7A	chr2:20422937-20425652	ECC-1	luminal epithelium:	n/a	chr2:20423177-20423184 chr2:20425227-20425236 chr2:20423506-20423515
32	RAD21	chr2:20424981-20425639	MCF-7	breast:	n/a	chr2:20425226-20425238
33	CTCF	chr2:20425480-20425630	Caco-2	colon:	n/a	n/a
34	TBP	chr2:20424795-20425858	H1-hESC	embryonic stem cell:	n/a	n/a
35	HEY1	chr2:20425563-20425973	HepG2	liver:	n/a	n/a
36	POLR2A	chr2:20424943-20425987	H1-hESC	embryonic stem cell:	n/a	n/a
37	MYBL2	chr2:20424431-20426143	HepG2	liver:	n/a	n/a
38	MAX	chr2:20424824-20425715	MCF-7	breast:	n/a	n/a
39	MAX	chr2:20422708-20425903	A549	lung:	n/a	chr2:20423191-20423198 chr2:20424483-20424490 chr2:20423189-20423200 chr2:20424338-20424348 chr2:20423190-20423199 chr2:20423540-20423550 chr2:20423190-20423200 chr2:20424526-20424536 chr2:20423189-20423199
40	POLR2A	chr2:20424977-20425807	H1-hESC	embryonic stem cell:	n/a	n/a
41	RAD21	chr2:20424833-20425677	HCT-116	colon:	n/a	chr2:20425226-20425238
42	MTA3	chr2:20424906-20425655	GM12878	blood:	n/a	n/a
43	RAD21	chr2:20424652-20425634	SK-N-SH_RA	brain:	n/a	chr2:20425226-20425238
44	POLR2A	chr2:20422475-20425920	HepG2	liver:	n/a	n/a
45	HNF4A	chr2:20425072-20426030	HepG2	liver:	n/a	chr2:20425988-20425996 chr2:20425615-20425627 chr2:20425808-20425822 chr2:20425809-20425822
46	MAX	chr2:20424979-20426145	H1-hESC	embryonic stem cell:	n/a	n/a
47	E2F6	chr2:20424981-20426097	H1-hESC	embryonic stem cell:	n/a	chr2:20425402-20425411
48	BCL3	chr2:20424576-20425814	A549	lung:	n/a	chr2:20424952-20424965 chr2:20425487-20425500 chr2:20424671-20424684 chr2:20424655-20424668 chr2:20425064-20425072
49	RAD21	chr2:20424830-20425658	A549	lung:	n/a	chr2:20425226-20425238
50	MAX	chr2:20422574-20426033	A549	lung:	n/a	chr2:20423191-20423198 chr2:20424483-20424490 chr2:20423189-20423200 chr2:20424338-20424348 chr2:20423190-20423199 chr2:20423540-20423550 chr2:20423190-20423200 chr2:20424526-20424536 chr2:20423189-20423199

No.	Distal block	Cell Line	Cell type
1	chr2:20299695..20307724-chr2:20421846..20426859,15	MCF-7	breast:
2	chr2:20424066..20426931-chr2:20646792..20649592,2	MCF-7	breast:
3	chr2:20422608..20425941-chr2:20442995..20447318,5	MCF-7	breast:
4	chr2:20249233..20252415-chr2:20424056..20425890,4	MCF-7	breast:
5	chr2:20097107..20100415-chr2:20424161..20425989,3	K562	blood:
6	chr2:20421499..20423791-chr2:20425335..20427623,2	K562	blood:

Variant related genes	Relation type
SDC1	TF binding region
ENSG00000143878	Chromatin interaction
ENSG00000115884	Chromatin interaction
ENSG00000183891	Chromatin interaction
ENSG00000234378	Chromatin interaction
ENSG00000223734	Chromatin interaction
ENSG00000238735	Chromatin interaction
ENSG00000068697	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1846803	chr2:20409322-20427189	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
2	esv3429530	chr2:20423096-20425644	Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
3	esv1798036	chr2:20423264-20442631	Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	esv1846193	chr2:20423264-20442631	Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	esv1849406	chr2:20423264-20442631	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	esv1819683	chr2:20423264-20455467	Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
7	esv3398925	chr2:20423871-20426119	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:20422600-20425800	Active TSS	Rectal Smooth Muscle	rectum
2	chr2:20422800-20426000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr2:20423000-20425800	Active TSS	H9 Cell Line	embryonic stem cell
4	chr2:20423000-20425800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
5	chr2:20423000-20425800	Flanking Active TSS	Primary hematopoietic stem cells	blood
6	chr2:20423000-20425800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr2:20423400-20425800	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
8	chr2:20424200-20425800	Flanking Active TSS	Adipose Nuclei	Adipose
9	chr2:20425000-20425800	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr2:20425000-20425800	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
11	chr2:20425000-20425800	Enhancers	Fetal Brain Male	brain
12	chr2:20425000-20425800	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
13	chr2:20425200-20425800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
14	chr2:20425200-20425800	Bivalent Enhancer	Spleen	Spleen
15	chr2:20425200-20426000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr2:20425200-20426000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr2:20425200-20426000	Enhancers	Lung	lung
18	chr2:20425200-20426200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr2:20425200-20426200	Flanking Active TSS	Colonic Mucosa	Colon
20	chr2:20425400-20425800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
21	chr2:20425400-20425800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
22	chr2:20425400-20425800	Bivalent/Poised TSS	Primary T cells from cord blood	blood
23	chr2:20425400-20425800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
24	chr2:20425400-20425800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
25	chr2:20425400-20425800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr2:20425400-20425800	Flanking Active TSS	Fetal Intestine Large	intestine
27	chr2:20425400-20425800	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
28	chr2:20425400-20425800	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
29	chr2:20425400-20425800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
30	chr2:20425400-20425800	Flanking Bivalent TSS/Enh	Thymus	Thymus
31	chr2:20425400-20425800	Flanking Active TSS	A549	lung
32	chr2:20425400-20425800	Flanking Active TSS	GM12878-XiMat	blood
33	chr2:20425400-20425800	Flanking Active TSS	HMEC	breast
34	chr2:20425400-20425800	Flanking Active TSS	HSMM	muscle
35	chr2:20425400-20426000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
36	chr2:20425400-20426000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr2:20425400-20426000	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
38	chr2:20425400-20426000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr2:20425400-20426000	Flanking Active TSS	Duodenum Mucosa	Duodenum
40	chr2:20425400-20426000	Flanking Active TSS	Fetal Intestine Small	intestine
41	chr2:20425400-20426200	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr2:20425400-20426200	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr2:20425400-20426200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr2:20425400-20426200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr2:20425400-20426200	Flanking Active TSS	Liver	Liver
46	chr2:20425400-20426200	Enhancers	Gastric	stomach
47	chr2:20425400-20426200	Enhancers	Pancreas	Pancrea
48	chr2:20425400-20426200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
49	chr2:20425400-20426200	Enhancers	Sigmoid Colon	Sigmoid Colon
50	chr2:20425400-20426200	Flanking Active TSS	HepG2	liver

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links