Variant report

Variant	rs45560237
Chromosome Location	chr2:113937182-113937183
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	POLR2A	chr2:113935771-113938534	GM12891	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:113914021..113918016-chr2:113931911..113937619,8	MCF-7	breast:
2	chr2:113935660..113937714-chr2:113950239..113952545,2	K562	blood:
3	chr2:113913253..113915843-chr2:113936341..113937921,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000234174	TF binding region
ENSG00000125637	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11693483	1.00[ASN][1000 genomes]
rs11893620	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17043077	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2902453	1.00[ASN][1000 genomes]
rs34091220	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34461072	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71416505	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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:66 , 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	chr2:113923800-113937800	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr2:113930800-113937800	Weak transcription	Pancreas	Pancrea
6	chr2:113931400-113937800	Weak transcription	Fetal Intestine Large	intestine
7	chr2:113932000-113937600	Weak transcription	Gastric	stomach
8	chr2:113932400-113937600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr2:113932400-113939400	Weak transcription	Fetal Stomach	stomach
10	chr2:113932400-113939600	Enhancers	Placenta	Placenta
11	chr2:113932800-113937600	Weak transcription	Fetal Muscle Leg	muscle
12	chr2:113933000-113938000	Weak transcription	Brain Hippocampus Middle	brain
13	chr2:113933000-113938800	Weak transcription	Adipose Nuclei	Adipose
14	chr2:113933400-113937800	Weak transcription	Small Intestine	intestine
15	chr2:113934000-113937800	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr2:113934200-113939000	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr2:113934200-113949000	Genic enhancers	Primary B cells from peripheral blood	blood
18	chr2:113934200-113956200	Weak transcription	Rectal Smooth Muscle	rectum
19	chr2:113934400-113937600	Genic enhancers	Monocytes-CD14+_RO01746	blood
20	chr2:113934400-113939600	Enhancers	Placenta Amnion	Placenta Amnion
21	chr2:113934400-113940000	Genic enhancers	Primary monocytes fromperipheralblood	blood
22	chr2:113934400-113948600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr2:113934600-113937600	Genic enhancers	Primary T cells fromperipheralblood	blood
24	chr2:113934600-113937800	Genic enhancers	Primary B cells from cord blood	blood
25	chr2:113934600-113939000	Weak transcription	Colonic Mucosa	Colon
26	chr2:113934600-113939000	Enhancers	Duodenum Mucosa	Duodenum
27	chr2:113934600-113940800	Genic enhancers	Fetal Thymus	thymus
28	chr2:113934600-113941000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
29	chr2:113934600-113946400	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
30	chr2:113934800-113938600	Weak transcription	Fetal Lung	lung
31	chr2:113934800-113938800	Weak transcription	Lung	lung
32	chr2:113934800-113939000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
33	chr2:113934800-113939000	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
34	chr2:113934800-113939400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr2:113934800-113939800	Genic enhancers	Thymus	Thymus
36	chr2:113935000-113937800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr2:113935000-113939000	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr2:113935200-113937800	Enhancers	Primary T helper cells fromperipheralblood	blood
39	chr2:113935200-113942800	Genic enhancers	Dnd41	blood
40	chr2:113935400-113938800	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
41	chr2:113935800-113937800	Enhancers	Primary T helper naive cells from peripheral blood	blood
42	chr2:113935800-113939800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr2:113936000-113937800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
44	chr2:113936000-113938800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr2:113936200-113937200	Enhancers	Esophagus	oesophagus
46	chr2:113936200-113938200	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
47	chr2:113936200-113939800	Enhancers	Primary hematopoietic stem cells	blood
48	chr2:113936400-113938000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr2:113936400-113938800	Enhancers	K562	blood
50	chr2:113936600-113937200	Enhancers	Primary T cells from cord blood	blood

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