Variant report

Variant	rs6137849
Chromosome Location	chr20:23144230-23144231
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	CTCF	chr20:23144118-23144390	GM12878	blood:	n/a	chr20:23144135-23144143
2	CTCF	chr20:23144140-23144290	HMEC	breast:	n/a	n/a

Variant related genes	Relation type
RNA5SP478	TF binding region

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

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11906022	1.00[AMR][1000 genomes]
rs11908145	1.00[AMR][1000 genomes]
rs11908174	1.00[AMR][1000 genomes]
rs16985047	1.00[ASW][hapmap];0.82[CHB][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.87[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs59050103	1.00[AMR][1000 genomes]
rs6048495	1.00[AMR][1000 genomes]
rs60582540	1.00[AMR][1000 genomes]
rs6132571	0.89[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs73901932	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs73901939	1.00[AMR][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:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:23137600-23144800	Weak transcription	Ovary	ovary
2	chr20:23138400-23146400	Enhancers	Placenta	Placenta
3	chr20:23139400-23145200	Enhancers	Left Ventricle	heart
4	chr20:23139400-23146600	Enhancers	Rectal Mucosa Donor 31	rectum
5	chr20:23139800-23145200	Enhancers	Lung	lung
6	chr20:23139800-23146400	Enhancers	Fetal Muscle Leg	muscle
7	chr20:23139800-23146600	Enhancers	Stomach Mucosa	stomach
8	chr20:23140400-23146400	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr20:23140400-23146600	Enhancers	Rectal Mucosa Donor 29	rectum
10	chr20:23140600-23146200	Enhancers	Colonic Mucosa	Colon
11	chr20:23141000-23144400	Enhancers	Duodenum Mucosa	Duodenum
12	chr20:23141200-23145400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr20:23141200-23146200	Enhancers	Fetal Muscle Trunk	muscle
14	chr20:23141400-23144800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr20:23141600-23144600	Weak transcription	Brain Hippocampus Middle	brain
16	chr20:23141600-23144800	Weak transcription	Brain Cingulate Gyrus	brain
17	chr20:23142200-23146000	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr20:23142200-23146400	Enhancers	Fetal Stomach	stomach
19	chr20:23142800-23146800	Enhancers	Fetal Intestine Large	intestine
20	chr20:23142800-23148000	Weak transcription	NH-A	brain
21	chr20:23143000-23144800	Enhancers	Stomach Smooth Muscle	stomach
22	chr20:23143000-23148000	Weak transcription	NHDF-Ad	bronchial
23	chr20:23143200-23144400	Enhancers	Primary neutrophils fromperipheralblood	blood
24	chr20:23143200-23144800	Weak transcription	Fetal Lung	lung
25	chr20:23143200-23147400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr20:23143400-23145000	Weak transcription	Brain Germinal Matrix	brain
27	chr20:23143400-23146000	Weak transcription	Fetal Heart	heart
28	chr20:23143400-23146200	Enhancers	Skeletal Muscle Male	skeletal muscle
29	chr20:23143400-23148000	Weak transcription	NHEK	skin
30	chr20:23143600-23144400	Weak transcription	Fetal Intestine Small	intestine
31	chr20:23143600-23145000	Enhancers	Small Intestine	intestine
32	chr20:23143800-23144800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr20:23143800-23144800	Weak transcription	Right Ventricle	heart
34	chr20:23143800-23145000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr20:23143800-23145000	Weak transcription	Psoas Muscle	Psoas
36	chr20:23143800-23145600	Enhancers	Duodenum Smooth Muscle	Duodenum
37	chr20:23143800-23146000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr20:23143800-23146000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
39	chr20:23143800-23147400	Weak transcription	Esophagus	oesophagus
40	chr20:23144000-23145000	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr20:23144000-23145000	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr20:23144000-23145200	Weak transcription	Gastric	stomach
43	chr20:23144000-23145400	Weak transcription	Spleen	Spleen
44	chr20:23144000-23148400	Weak transcription	Right Atrium	heart
45	chr20:23144000-23150800	Weak transcription	Monocytes-CD14+_RO01746	blood
46	chr20:23144000-23151000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr20:23144200-23144600	Weak transcription	Adipose Nuclei	Adipose

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