Variant report

Variant	rs10180711
Chromosome Location	chr2:47536846-47536847
allele	A/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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:47398263..47400819-chr2:47535902..47539310,3	MCF-7	breast:
2	chr2:47497085..47500611-chr2:47536768..47542000,5	MCF-7	breast:
3	chr2:47529997..47532403-chr2:47536425..47538382,2	K562	blood:
4	chr2:47402318..47405024-chr2:47536306..47539127,3	MCF-7	breast:
5	chr2:47395267..47408439-chr2:47533772..47553038,55	MCF-7	breast:
6	chr2:47398936..47406040-chr2:47522760..47537371,25	K562	blood:
7	chr2:47536098..47538713-chr2:47547950..47550505,2	MCF-7	breast:
8	chr2:47424415..47427832-chr2:47536667..47539203,3	MCF-7	breast:
9	chr2:47500714..47503481-chr2:47536098..47539031,2	K562	blood:
10	chr2:47402139..47404719-chr2:47535417..47537672,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000143933	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12471906	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4558636	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4560164	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6544977	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6544978	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6720211	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9789479	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9789683	0.86[AMR][1000 genomes];0.86[EUR][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	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	nsv457385	chr2:47468331-47552277	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv581755	chr2:47468331-47552277	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	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

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47519800-47537200	Weak transcription	Fetal Stomach	stomach
2	chr2:47520800-47540000	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr2:47523200-47537000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr2:47525400-47537400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr2:47526600-47537800	Weak transcription	Fetal Brain Male	brain
6	chr2:47529400-47538000	Weak transcription	Small Intestine	intestine
7	chr2:47530400-47541200	Enhancers	Fetal Intestine Small	intestine
8	chr2:47530400-47541600	Enhancers	Fetal Intestine Large	intestine
9	chr2:47531000-47537000	Weak transcription	Osteobl	bone
10	chr2:47532000-47537200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr2:47532200-47537400	Weak transcription	HSMM	muscle
12	chr2:47534400-47537400	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr2:47534400-47550400	Weak transcription	Ovary	ovary
14	chr2:47534600-47537000	Weak transcription	NHLF	lung
15	chr2:47534600-47537800	Weak transcription	Fetal Brain Female	brain
16	chr2:47535000-47538800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr2:47535000-47540600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr2:47535400-47537000	Weak transcription	Colon Smooth Muscle	Colon
19	chr2:47536200-47537000	Enhancers	Lung	lung
20	chr2:47536200-47537200	Enhancers	Primary B cells from cord blood	blood
21	chr2:47536200-47537200	Enhancers	Rectal Mucosa Donor 31	rectum
22	chr2:47536200-47537600	Enhancers	Stomach Smooth Muscle	stomach
23	chr2:47536200-47539400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr2:47536200-47540000	Enhancers	Primary B cells from peripheral blood	blood
25	chr2:47536200-47541400	Enhancers	Stomach Mucosa	stomach
26	chr2:47536400-47538600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
27	chr2:47536400-47538600	Flanking Active TSS	HepG2	liver
28	chr2:47536400-47539000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr2:47536600-47537000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
30	chr2:47536600-47537400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr2:47536600-47537800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr2:47536600-47538200	Flanking Active TSS	A549	lung
33	chr2:47536600-47538800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr2:47536600-47539000	Enhancers	Cortex derived primary cultured neurospheres	brain
35	chr2:47536600-47539600	Enhancers	Placenta	Placenta
36	chr2:47536600-47541000	Enhancers	Primary hematopoietic stem cells	blood
37	chr2:47536800-47537000	Flanking Active TSS	Duodenum Mucosa	Duodenum
38	chr2:47536800-47537200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr2:47536800-47537400	Flanking Active TSS	Brain Angular Gyrus	brain
40	chr2:47536800-47537400	Enhancers	Placenta Amnion	Placenta Amnion
41	chr2:47536800-47537400	Flanking Active TSS	GM12878-XiMat	blood
42	chr2:47536800-47537800	Enhancers	iPS-18 Cell Line	embryonic stem cell
43	chr2:47536800-47537800	Flanking Active TSS	Brain Substantia Nigra	brain
44	chr2:47536800-47538000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr2:47536800-47538000	Enhancers	HUES6 Cell Line	embryonic stem cell
46	chr2:47536800-47538000	Enhancers	Breast Myoepithelial Primary Cells	Breast
47	chr2:47536800-47538000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
48	chr2:47536800-47538000	Enhancers	Fetal Kidney	kidney
49	chr2:47536800-47538200	Enhancers	HUES64 Cell Line	embryonic stem cell
50	chr2:47536800-47538200	Enhancers	iPS-15b Cell Line	embryonic stem cell

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