Variant report

Variant	rs55746251
Chromosome Location	chr2:113938782-113938783
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:12)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:12 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	REST	chr2:113938748-113939124	HepG2	liver:	n/a	n/a
2	FOXA1	chr2:113938646-113939133	HepG2	liver:	n/a	n/a
3	SPI1	chr2:113938661-113939136	HL-60	blood:	n/a	n/a
4	TCF12	chr2:113938677-113938945	HepG2	liver:	n/a	n/a
5	POLR2A	chr2:113938764-113940070	GM12878	blood:	n/a	n/a
6	ZNF384	chr2:113938760-113939052	K562	blood:	n/a	n/a
7	POLR2A	chr2:113938662-113939748	HL-60	blood:	n/a	n/a
8	POLR2A	chr2:113938740-113941821	GM12891	blood:	n/a	n/a
9	POLR2A	chr2:113938755-113940185	HL-60	blood:	n/a	n/a
10	MXI1	chr2:113938757-113939035	HepG2	liver:	n/a	n/a
11	MYBL2	chr2:113938601-113939168	HepG2	liver:	n/a	n/a
12	CEBPB	chr2:113938725-113939017	HepG2	liver:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:113933965..113936589-chr2:113937925..113940404,2	MCF-7	breast:
2	chr2:113914767..113917449-chr2:113937885..113940587,3	MCF-7	breast:
3	chr2:113839317..113841682-chr2:113938699..113940328,2	K562	blood:

No data

Variant related genes	Relation type
PSD4	TF binding region
ENSG00000125637	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs1562277	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17043069	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs45627232	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7570503	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]

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	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	nsv582712	chr2:113932431-113985170	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv874897	chr2:113935407-113944762	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv874898	chr2:113935407-113954247	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv874899	chr2:113935407-113962071	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113916000-113939000	Weak transcription	Right Atrium	heart
2	chr2:113923000-113951800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr2:113923000-113956000	Weak transcription	HMEC	breast
4	chr2:113932400-113939400	Weak transcription	Fetal Stomach	stomach
5	chr2:113932400-113939600	Enhancers	Placenta	Placenta
6	chr2:113933000-113938800	Weak transcription	Adipose Nuclei	Adipose
7	chr2:113934200-113939000	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr2:113934200-113949000	Genic enhancers	Primary B cells from peripheral blood	blood
9	chr2:113934200-113956200	Weak transcription	Rectal Smooth Muscle	rectum
10	chr2:113934400-113939600	Enhancers	Placenta Amnion	Placenta Amnion
11	chr2:113934400-113940000	Genic enhancers	Primary monocytes fromperipheralblood	blood
12	chr2:113934400-113948600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr2:113934600-113939000	Weak transcription	Colonic Mucosa	Colon
14	chr2:113934600-113939000	Enhancers	Duodenum Mucosa	Duodenum
15	chr2:113934600-113940800	Genic enhancers	Fetal Thymus	thymus
16	chr2:113934600-113941000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
17	chr2:113934600-113946400	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
18	chr2:113934800-113938800	Weak transcription	Lung	lung
19	chr2:113934800-113939000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr2:113934800-113939000	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
21	chr2:113934800-113939400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr2:113934800-113939800	Genic enhancers	Thymus	Thymus
23	chr2:113935000-113939000	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr2:113935200-113942800	Genic enhancers	Dnd41	blood
25	chr2:113935400-113938800	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
26	chr2:113935800-113939800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr2:113936000-113938800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr2:113936200-113939800	Enhancers	Primary hematopoietic stem cells	blood
29	chr2:113936400-113938800	Enhancers	K562	blood
30	chr2:113936600-113939000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr2:113936600-113939000	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr2:113936600-113939000	Weak transcription	NHEK	skin
33	chr2:113936800-113939000	Enhancers	Spleen	Spleen
34	chr2:113936800-113940000	Enhancers	Liver	Liver
35	chr2:113936800-113940400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr2:113937000-113938800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
37	chr2:113937000-113938800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr2:113937200-113939000	Flanking Active TSS	Primary T cells from cord blood	blood
39	chr2:113937400-113939000	Enhancers	Fetal Intestine Small	intestine
40	chr2:113937600-113939200	Enhancers	Esophagus	oesophagus
41	chr2:113937600-113939600	Enhancers	Fetal Muscle Leg	muscle
42	chr2:113937600-113939600	Flanking Active TSS	HepG2	liver
43	chr2:113937600-113940000	Enhancers	Gastric	stomach
44	chr2:113937800-113938800	Enhancers	Small Intestine	intestine
45	chr2:113937800-113939400	Enhancers	Fetal Muscle Trunk	muscle
46	chr2:113937800-113939600	Enhancers	Rectal Mucosa Donor 31	rectum
47	chr2:113937800-113939800	Enhancers	Fetal Intestine Large	intestine
48	chr2:113937800-113939800	Enhancers	Stomach Mucosa	stomach
49	chr2:113937800-113940400	Enhancers	Pancreas	Pancrea
50	chr2:113938000-113939800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood

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