Variant report

Variant	rs61451736
Chromosome Location	chr2:47563310-47563311
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:47562019..47564968-chr2:48001408..48003058,2	K562	blood:
2	chr2:47559485..47574826-chr2:47594341..47605593,65	MCF-7	breast:
3	chr2:47561959..47565360-chr2:47628705..47631458,3	MCF-7	breast:
4	chr2:47561955..47564861-chr2:47565675..47567222,2	MCF-7	breast:
5	chr2:47559153..47564945-chr2:47565621..47568941,6	MCF-7	breast:
6	chr2:47403148..47405109-chr2:47562300..47565020,2	K562	blood:
7	chr2:47562044..47564386-chr2:47594920..47596898,2	K562	blood:
8	chr2:47560518..47577182-chr2:47592669..47600258,43	MCF-7	breast:
9	chr2:47562717..47565551-chr2:47628242..47631677,3	K562	blood:
10	chr2:47560958..47563782-chr2:47613273..47615976,2	MCF-7	breast:
11	chr2:47400875..47405109-chr2:47562300..47565590,5	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-EPCAM-1	chr2:47558199-47571656	ENSG00000236824

No data

Variant related genes	Relation type
ENSG00000143933	Chromatin interaction
ENSG00000095002	Chromatin interaction
ENSG00000119888	Chromatin interaction
ENSG00000207923	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs57155672	0.85[AFR][1000 genomes]
rs57945178	1.00[AMR][1000 genomes]
rs58882508	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58931241	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59248614	1.00[AMR][1000 genomes]
rs59927838	1.00[AMR][1000 genomes]
rs60518577	1.00[AMR][1000 genomes]
rs60887102	1.00[AMR][1000 genomes]
rs60998282	1.00[AMR][1000 genomes]
rs72882704	1.00[AMR][1000 genomes]
rs72882709	1.00[AMR][1000 genomes]
rs72882712	1.00[AMR][1000 genomes]
rs72882715	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72882770	1.00[AMR][1000 genomes]
rs72884694	1.00[AMR][1000 genomes]
rs72884701	1.00[AMR][1000 genomes]
rs72886311	1.00[AMR][1000 genomes]
rs72886331	1.00[AMR][1000 genomes]
rs72886333	1.00[AMR][1000 genomes]
rs72886340	1.00[AMR][1000 genomes]
rs72886346	1.00[AMR][1000 genomes]
rs72886357	1.00[AMR][1000 genomes]
rs72886367	1.00[AMR][1000 genomes]
rs72888235	1.00[AMR][1000 genomes]
rs72888241	1.00[AMR][1000 genomes]
rs72888249	1.00[AMR][1000 genomes]

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	nsv817517	chr2:46819371-47715140	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
2	nsv1004828	chr2:47056849-47814482	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
3	nsv531348	chr2:47433147-47827310	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
4	nsv999576	chr2:47506116-47773960	Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
5	nsv524003	chr2:47543245-47590034	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
6	nsv581756	chr2:47552706-47590930	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
7	nsv1009586	chr2:47552706-47621487	Strong transcription Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47543200-47563400	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr2:47549000-47563400	Weak transcription	Spleen	Spleen
3	chr2:47549200-47563600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr2:47550400-47563800	Weak transcription	Gastric	stomach
5	chr2:47550400-47565200	Weak transcription	Rectal Smooth Muscle	rectum
6	chr2:47550600-47563400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr2:47550800-47563400	Weak transcription	Brain Angular Gyrus	brain
8	chr2:47550800-47563400	Weak transcription	Right Atrium	heart
9	chr2:47551000-47563400	Weak transcription	Colonic Mucosa	Colon
10	chr2:47551000-47563400	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr2:47551000-47563400	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr2:47551000-47564000	Weak transcription	Stomach Mucosa	stomach
13	chr2:47551000-47565600	Weak transcription	Ovary	ovary
14	chr2:47551200-47572400	Weak transcription	Lung	lung
15	chr2:47552600-47570000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr2:47560000-47563400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr2:47560000-47563600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr2:47560400-47563600	Weak transcription	Pancreas	Pancrea
19	chr2:47560400-47564000	Weak transcription	Fetal Lung	lung
20	chr2:47560400-47567200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr2:47560600-47563400	Weak transcription	Fetal Intestine Large	intestine
22	chr2:47560600-47563400	Weak transcription	Fetal Intestine Small	intestine
23	chr2:47560600-47563600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr2:47560600-47563600	Weak transcription	Fetal Stomach	stomach
25	chr2:47560600-47567200	Weak transcription	Fetal Brain Female	brain
26	chr2:47560800-47563400	Weak transcription	HepG2	liver
27	chr2:47561600-47563400	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr2:47561800-47569400	Weak transcription	Fetal Brain Male	brain
29	chr2:47561800-47571400	Weak transcription	Brain Substantia Nigra	brain
30	chr2:47562000-47563800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr2:47562000-47563800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr2:47562000-47567200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr2:47562200-47563400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr2:47562200-47563400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr2:47562200-47563600	Weak transcription	NH-A	brain
36	chr2:47562200-47565200	Enhancers	Primary monocytes fromperipheralblood	blood
37	chr2:47562200-47565600	Enhancers	Primary B cells from peripheral blood	blood
38	chr2:47562200-47566400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr2:47562200-47566800	Weak transcription	HMEC	breast
40	chr2:47562200-47567000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr2:47562200-47567400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr2:47562200-47570200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr2:47562400-47563400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr2:47562400-47563400	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr2:47562400-47563400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr2:47562400-47563400	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr2:47562400-47563400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr2:47562400-47563600	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr2:47562400-47563600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr2:47562400-47563600	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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