Variant report

Variant	rs186753826
Chromosome Location	chr2:113914406-113914407
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	POLR2A	chr2:113913787-113914569	HepG2	liver:	n/a	n/a
2	STAT3	chr2:113914307-113914409	MCF10A-Er-Src	breast:	n/a	chr2:113914393-113914404
3	FOXA1	chr2:113913795-113914444	HepG2	liver:	n/a	n/a
4	HDAC2	chr2:113913887-113915314	HepG2	liver:	n/a	n/a
5	STAT3	chr2:113914208-113914479	MCF10A-Er-Src	breast:	n/a	chr2:113914290-113914301 chr2:113914393-113914404
6	POLR2A	chr2:113914336-113914891	HepG2	liver:	n/a	n/a
7	HEY1	chr2:113913691-113915323	HepG2	liver:	n/a	chr2:113915191-113915206
8	TEAD4	chr2:113913734-113914731	HepG2	liver:	n/a	n/a
9	MAX	chr2:113913879-113915739	HepG2	liver:	n/a	n/a
10	FOXA1	chr2:113913794-113914460	HepG2	liver:	n/a	n/a
11	SP1	chr2:113913751-113914424	HepG2	liver:	n/a	n/a
12	MBD4	chr2:113913910-113914731	HepG2	liver:	n/a	n/a
13	STAT3	chr2:113914261-113914449	MCF10A-Er-Src	breast:	n/a	chr2:113914290-113914301 chr2:113914393-113914404
14	NFIC	chr2:113913797-113914411	HepG2	liver:	n/a	n/a
15	ARID3A	chr2:113913930-113914725	HepG2	liver:	n/a	n/a
16	TCF7L2	chr2:113914112-113914457	HepG2	liver:	n/a	n/a
17	EP300	chr2:113913847-113914424	HepG2	liver:	n/a	n/a
18	EP300	chr2:113914326-113915794	ECC-1	luminal epithelium:	n/a	n/a
19	POLR2A	chr2:113914280-113915629	MCF10A-Er-Src	breast:	n/a	n/a
20	TCF12	chr2:113914382-113915742	ECC-1	luminal epithelium:	n/a	chr2:113915457-113915464
21	MYBL2	chr2:113913715-113914848	HepG2	liver:	n/a	n/a
22	SIN3A	chr2:113914305-113914849	H1-hESC	embryonic stem cell:	n/a	chr2:113914782-113914795
23	MYBL2	chr2:113913666-113914965	HepG2	liver:	n/a	n/a
24	HDAC2	chr2:113913830-113914459	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:113912322..113918193-chr2:113953978..113958305,10	MCF-7	breast:
2	chr2:113913826..113916797-chr2:113930139..113933348,3	K562	blood:
3	chr2:113913193..113914847-chr2:113997714..113999799,2	K562	blood:
4	chr2:113882796..113885709-chr2:113913605..113916421,2	MCF-7	breast:
5	chr2:113914021..113918016-chr2:113931911..113937619,8	MCF-7	breast:
6	chr2:113913340..113916449-chr2:113931202..113934969,5	MCF-7	breast:
7	chr2:113913769..113918338-chr2:113954843..113958220,11	MCF-7	breast:

Variant related genes	Relation type
PSD4	TF binding region
ENSG00000136689	Chromatin interaction
ENSG00000258395	Chromatin interaction
ENSG00000125618	Chromatin interaction
ENSG00000234174	Chromatin interaction
ENSG00000125637	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv997348	chr2:113688093-113986508	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv582711	chr2:113895516-113984503	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	esv3374293	chr2:113913906-113916454	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
4	esv3380010	chr2:113913981-113916129	Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113913400-113914600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr2:113913400-113914600	Enhancers	Pancreas	Pancrea
3	chr2:113913600-113915000	Weak transcription	Gastric	stomach
4	chr2:113913800-113914600	Enhancers	Primary B cells from peripheral blood	blood
5	chr2:113913800-113914800	Flanking Active TSS	HepG2	liver
6	chr2:113914000-113914600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr2:113914000-113914600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:113914000-113914600	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
9	chr2:113914000-113914600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
10	chr2:113914000-113914600	Enhancers	Fetal Intestine Large	intestine
11	chr2:113914000-113914600	Enhancers	Placenta	Placenta
12	chr2:113914000-113914800	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
13	chr2:113914000-113914800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
14	chr2:113914000-113914800	Flanking Active TSS	K562	blood
15	chr2:113914000-113915200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
16	chr2:113914000-113916400	Active TSS	Pancreatic Islets	Pancreatic Islet
17	chr2:113914200-113914600	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
18	chr2:113914200-113914600	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
19	chr2:113914200-113914600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr2:113914200-113914600	Enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr2:113914200-113914600	Flanking Active TSS	Liver	Liver
22	chr2:113914200-113914600	Flanking Active TSS	Stomach Mucosa	stomach
23	chr2:113914200-113914600	Enhancers	HMEC	breast
24	chr2:113914200-113914800	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
25	chr2:113914200-113914800	Flanking Active TSS	Primary hematopoietic stem cells	blood
26	chr2:113914200-113914800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
27	chr2:113914200-113914800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
28	chr2:113914200-113914800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
29	chr2:113914200-113914800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
30	chr2:113914200-113914800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr2:113914200-113914800	Flanking Active TSS	Dnd41	blood
32	chr2:113914200-113914800	Flanking Active TSS	GM12878-XiMat	blood
33	chr2:113914200-113915400	Active TSS	Breast Myoepithelial Primary Cells	Breast
34	chr2:113914400-113914600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr2:113914400-113914600	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
36	chr2:113914400-113914600	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
37	chr2:113914400-113914600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr2:113914400-113914600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr2:113914400-113914600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
40	chr2:113914400-113914600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
41	chr2:113914400-113914600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr2:113914400-113914600	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
43	chr2:113914400-113914600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr2:113914400-113914600	Flanking Active TSS	Brain Anterior Caudate	brain
45	chr2:113914400-113914600	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
46	chr2:113914400-113914600	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
47	chr2:113914400-113914600	Flanking Active TSS	Fetal Intestine Small	intestine
48	chr2:113914400-113914600	Flanking Active TSS	Fetal Kidney	kidney
49	chr2:113914400-113914600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
50	chr2:113914400-113914600	Flanking Active TSS	NH-A	brain

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