Variant report

Variant	rs6137845
Chromosome Location	chr20:23132578-23132579
allele	C/T
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:0)
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	chr20:23129251..23133596-chr20:23289860..23293957,6	K562	blood:
2	chr20:23130457..23132351-chr20:23132417..23135261,2	MCF-7	breast:
3	chr20:23128680..23132693-chr20:23173285..23175662,3	K562	blood:
4	chr20:23080110..23082822-chr20:23132025..23133564,2	K562	blood:
5	chr20:23123944..23126735-chr20:23131086..23132834,2	MCF-7	breast:
6	chr20:23027375..23033068-chr20:23127953..23133190,8	K562	blood:
7	chr20:23131411..23133053-chr20:23183792..23185506,2	K562	blood:
8	chr20:23131349..23133053-chr20:23183942..23185506,2	K562	blood:
9	chr20:23092456..23098917-chr20:23127069..23136117,14	K562	blood:
10	chr20:23125309..23128497-chr20:23131083..23133976,3	MCF-7	breast:
11	chr20:23094897..23098917-chr20:23130908..23134771,6	K562	blood:

No data

Variant related genes	Relation type
ENSG00000178726	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs16985047	0.81[CHD][hapmap]
rs56820994	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6132569	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[TSI][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6137842	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6137844	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73901924	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[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:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:23120200-23137600	Enhancers	HUVEC	blood vessel
2	chr20:23121000-23144200	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr20:23121600-23138200	Enhancers	Adipose Nuclei	Adipose
4	chr20:23121800-23137600	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr20:23121800-23143000	Enhancers	NHDF-Ad	bronchial
6	chr20:23122600-23138000	Enhancers	NHLF	lung
7	chr20:23124200-23134600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr20:23124400-23132800	Weak transcription	Primary T cells from cord blood	blood
9	chr20:23124400-23133000	Weak transcription	Primary B cells from cord blood	blood
10	chr20:23124600-23132600	Weak transcription	Colon Smooth Muscle	Colon
11	chr20:23125000-23137600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr20:23125400-23134400	Enhancers	Monocytes-CD14+_RO01746	blood
13	chr20:23126400-23132600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr20:23126400-23132600	Weak transcription	Brain Substantia Nigra	brain
15	chr20:23127200-23142200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr20:23127600-23137600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr20:23127600-23137600	Enhancers	Left Ventricle	heart
18	chr20:23127800-23137000	Enhancers	Dnd41	blood
19	chr20:23128200-23133000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
20	chr20:23128200-23136200	Enhancers	Fetal Thymus	thymus
21	chr20:23128800-23137600	Enhancers	Psoas Muscle	Psoas
22	chr20:23129000-23133600	Enhancers	Right Ventricle	heart
23	chr20:23129000-23140800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr20:23129200-23132800	Weak transcription	Duodenum Mucosa	Duodenum
25	chr20:23129200-23135800	Enhancers	Primary neutrophils fromperipheralblood	blood
26	chr20:23129400-23132600	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr20:23129400-23135200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr20:23129400-23135800	Weak transcription	A549	lung
29	chr20:23129600-23136200	Enhancers	Right Atrium	heart
30	chr20:23129800-23133800	Enhancers	Fetal Muscle Leg	muscle
31	chr20:23130000-23132600	Enhancers	Esophagus	oesophagus
32	chr20:23130000-23133600	Enhancers	Fetal Muscle Trunk	muscle
33	chr20:23130200-23132800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr20:23130200-23135800	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr20:23130200-23140400	Weak transcription	Brain Hippocampus Middle	brain
36	chr20:23130800-23132600	Enhancers	K562	blood
37	chr20:23130800-23133400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr20:23130800-23134800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr20:23131000-23132800	Enhancers	Aorta	Aorta
40	chr20:23131000-23133400	Enhancers	Stomach Smooth Muscle	stomach
41	chr20:23131000-23133400	Enhancers	Spleen	Spleen
42	chr20:23131000-23133800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr20:23131000-23134800	Weak transcription	HMEC	breast
44	chr20:23131200-23133800	Enhancers	Primary hematopoietic stem cells	blood
45	chr20:23131200-23134000	Enhancers	Lung	lung
46	chr20:23131200-23134400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr20:23131200-23134600	Weak transcription	NHEK	skin
48	chr20:23131400-23134600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr20:23131400-23138000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
50	chr20:23131600-23132800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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