Variant report

Variant	rs6048561
Chromosome Location	chr20:23130136-23130137
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:20)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr20:23129251..23133596-chr20:23289860..23293957,6	K562	blood:
2	chr20:23130043..23132232-chr20:23322579..23325341,2	K562	blood:
3	chr20:22387131..22389688-chr20:23128753..23131289,2	K562	blood:
4	chr20:22808161..22811157-chr20:23128815..23130470,2	K562	blood:
5	chr20:23068190..23071729-chr20:23127032..23130141,4	K562	blood:
6	chr20:23128719..23130340-chr20:23179847..23182584,2	K562	blood:
7	chr20:23068076..23069690-chr20:23128418..23130201,2	K562	blood:
8	chr20:23128680..23132693-chr20:23173285..23175662,3	K562	blood:
9	chr20:23127608..23130209-chr20:23149080..23150975,2	K562	blood:
10	chr20:23129825..23131611-chr20:23330855..23333303,2	K562	blood:
11	chr20:23073207..23075435-chr20:23128612..23131372,2	K562	blood:
12	chr20:23128094..23130694-chr20:23194983..23196835,2	K562	blood:
13	chr20:23064363..23066368-chr20:23127818..23130287,3	K562	blood:
14	chr20:23128655..23130225-chr20:23192779..23194718,2	K562	blood:
15	chr20:23030281..23032450-chr20:23128861..23131677,3	K562	blood:
16	chr20:23027375..23033068-chr20:23127953..23133190,8	K562	blood:
17	chr20:23102523..23105175-chr20:23127807..23130561,3	K562	blood:
18	chr20:23092456..23098917-chr20:23127069..23136117,14	K562	blood:
19	chr20:23073935..23077646-chr20:23127330..23130238,3	K562	blood:
20	chr20:23092388..23096498-chr20:23127168..23130418,4	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SSTR4-13	chr20:23128723-23130576	NONHSAT079037

No data

Variant related genes	Relation type
ENSG00000178726	Chromatin interaction
ENSG00000132661	Chromatin interaction
ENSG00000234832	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11087414	0.87[CHB][hapmap]
rs11697283	0.91[CHB][hapmap]
rs12710326	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1884658	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4813480	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4815176	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6083011	0.91[CHB][hapmap]
rs6083014	0.87[CHB][hapmap];0.81[ASN][1000 genomes]
rs6083015	0.87[CHB][hapmap];0.81[ASN][1000 genomes]
rs6083016	0.95[CHB][hapmap];0.86[JPT][hapmap];0.89[ASN][1000 genomes]
rs6083017	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6113954	0.91[CHB][hapmap]
rs6113957	0.95[CHB][hapmap];0.86[JPT][hapmap];0.88[ASN][1000 genomes]
rs6113960	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6515302	0.91[CHB][hapmap]
rs6515304	0.95[CHB][hapmap];0.91[JPT][hapmap];0.92[ASN][1000 genomes]
rs7269464	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs755697	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8122415	0.86[CHB][hapmap]
rs844903	0.92[CEU][hapmap];0.87[JPT][hapmap];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs844904	0.92[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs844905	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]

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	esv2758516	chr20:23029404-23173240	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	esv2758789	chr20:23029404-23179604	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
3	nsv1066935	chr20:23123507-23146449	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv912817	chr20:23127661-23240969	Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:23118400-23131000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr20:23120200-23137600	Enhancers	HUVEC	blood vessel
3	chr20:23121000-23144200	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr20:23121200-23130800	Enhancers	HSMM	muscle
5	chr20:23121600-23130800	Enhancers	NH-A	brain
6	chr20:23121600-23138200	Enhancers	Adipose Nuclei	Adipose
7	chr20:23121800-23137600	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr20:23121800-23143000	Enhancers	NHDF-Ad	bronchial
9	chr20:23122600-23138000	Enhancers	NHLF	lung
10	chr20:23122800-23130800	Enhancers	Osteobl	bone
11	chr20:23123000-23130200	Enhancers	Placenta Amnion	Placenta Amnion
12	chr20:23123600-23132400	Weak transcription	Ovary	ovary
13	chr20:23124200-23134600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr20:23124400-23132800	Weak transcription	Primary T cells from cord blood	blood
15	chr20:23124400-23133000	Weak transcription	Primary B cells from cord blood	blood
16	chr20:23124600-23132400	Weak transcription	Fetal Heart	heart
17	chr20:23124600-23132600	Weak transcription	Colon Smooth Muscle	Colon
18	chr20:23125000-23137600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr20:23125400-23134400	Enhancers	Monocytes-CD14+_RO01746	blood
20	chr20:23126400-23131000	Weak transcription	Fetal Stomach	stomach
21	chr20:23126400-23132600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr20:23126400-23132600	Weak transcription	Brain Substantia Nigra	brain
23	chr20:23127200-23142200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr20:23127600-23131000	Enhancers	HMEC	breast
25	chr20:23127600-23132400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
26	chr20:23127600-23137600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr20:23127600-23137600	Enhancers	Left Ventricle	heart
28	chr20:23127800-23130200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr20:23127800-23131400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr20:23127800-23137000	Enhancers	Dnd41	blood
31	chr20:23128200-23131200	Enhancers	NHEK	skin
32	chr20:23128200-23133000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
33	chr20:23128200-23136200	Enhancers	Fetal Thymus	thymus
34	chr20:23128600-23130600	Enhancers	Spleen	Spleen
35	chr20:23128800-23137600	Enhancers	Psoas Muscle	Psoas
36	chr20:23129000-23131000	Weak transcription	Aorta	Aorta
37	chr20:23129000-23133600	Enhancers	Right Ventricle	heart
38	chr20:23129000-23140800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr20:23129200-23130400	Enhancers	Muscle Satellite Cultured Cells	--
40	chr20:23129200-23130800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr20:23129200-23131000	Weak transcription	Stomach Smooth Muscle	stomach
42	chr20:23129200-23131800	Enhancers	GM12878-XiMat	blood
43	chr20:23129200-23132800	Weak transcription	Duodenum Mucosa	Duodenum
44	chr20:23129200-23135800	Enhancers	Primary neutrophils fromperipheralblood	blood
45	chr20:23129400-23131000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr20:23129400-23132000	Weak transcription	Fetal Intestine Small	intestine
47	chr20:23129400-23132400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr20:23129400-23132400	Weak transcription	Fetal Intestine Large	intestine
49	chr20:23129400-23132400	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr20:23129400-23132600	Weak transcription	Duodenum Smooth Muscle	Duodenum

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