Variant report

Variant	rs869449
Chromosome Location	chr20:23187260-23187261
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr20:23184876..23187831-chr20:23190758..23193242,2	K562	blood:
2	chr20:23186331..23188352-chr20:23190022..23192258,2	K562	blood:
3	chr20:23181724..23187567-chr20:23190860..23194115,6	MCF-7	breast:
4	chr20:23181615..23184687-chr20:23185020..23187580,3	K562	blood:
5	chr20:22794571..22796277-chr20:23186495..23188754,2	MCF-7	breast:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs16985100	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs41282286	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6106612	0.96[ASN][1000 genomes]
rs6106614	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[JPT][hapmap];1.00[MEX][hapmap];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6114005	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61228829	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62206881	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv1066734	chr20:23170094-23277628	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription	Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:23182600-23187800	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr20:23183600-23189000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr20:23184800-23187400	Enhancers	Fetal Lung	lung
4	chr20:23184800-23187800	Enhancers	Brain Germinal Matrix	brain
5	chr20:23184800-23188400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr20:23184800-23189000	Enhancers	Fetal Muscle Leg	muscle
7	chr20:23185000-23187400	Enhancers	H1 Cell Line	embryonic stem cell
8	chr20:23185000-23187400	Enhancers	Esophagus	oesophagus
9	chr20:23185000-23188000	Enhancers	Left Ventricle	heart
10	chr20:23185000-23188800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr20:23185000-23188800	Enhancers	Fetal Muscle Trunk	muscle
12	chr20:23185000-23188800	Enhancers	Placenta	Placenta
13	chr20:23185200-23187800	Enhancers	Right Ventricle	heart
14	chr20:23185400-23187600	Enhancers	Adipose Nuclei	Adipose
15	chr20:23185400-23187800	Enhancers	Fetal Stomach	stomach
16	chr20:23185600-23187400	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr20:23185600-23189600	Weak transcription	K562	blood
18	chr20:23186000-23187600	Flanking Active TSS	Stomach Smooth Muscle	stomach
19	chr20:23186400-23187400	Enhancers	Right Atrium	heart
20	chr20:23186400-23187600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr20:23186600-23187400	Enhancers	Psoas Muscle	Psoas
22	chr20:23186600-23187400	Enhancers	NHDF-Ad	bronchial
23	chr20:23186600-23192200	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr20:23186800-23187400	Bivalent Enhancer	Fetal Brain Male	brain
25	chr20:23187000-23187400	Enhancers	Rectal Mucosa Donor 31	rectum
26	chr20:23187000-23187400	Enhancers	Rectal Smooth Muscle	rectum
27	chr20:23187000-23187600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr20:23187000-23188000	Enhancers	Colon Smooth Muscle	Colon
29	chr20:23187000-23188400	Enhancers	Skeletal Muscle Male	skeletal muscle
30	chr20:23187000-23190400	Weak transcription	Primary monocytes fromperipheralblood	blood
31	chr20:23187000-23192600	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr20:23187200-23191600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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