Variant report

Variant	rs2143550
Chromosome Location	chr20:15741029-15741030
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs175780	1.00[CEU][hapmap]
rs2423987	1.00[CEU][hapmap]
rs4814418	1.00[CEU][hapmap]
rs6034337	1.00[CEU][hapmap]
rs6043602	1.00[CEU][hapmap]
rs6043624	1.00[CEU][hapmap]
rs6043627	1.00[CEU][hapmap]
rs6043632	1.00[CEU][hapmap]
rs6043638	1.00[CEU][hapmap]
rs6080022	1.00[CEU][hapmap]
rs717146	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869328	chr20:15325423-16213898	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv833928	chr20:15619962-15780758	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
3	nsv912791	chr20:15702037-15759361	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv912792	chr20:15724399-15749292	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv458934	chr20:15738086-15772582	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv585641	chr20:15738086-15772582	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv585642	chr20:15738086-15772876	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv519883	chr20:15738086-15817106	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:15739600-15741600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr20:15740000-15741400	Enhancers	Brain Angular Gyrus	brain
3	chr20:15740000-15741400	Enhancers	Brain Germinal Matrix	brain
4	chr20:15740000-15741400	Enhancers	Brain Inferior Temporal Lobe	brain
5	chr20:15740000-15741600	Enhancers	Fetal Kidney	kidney
6	chr20:15740200-15741200	Enhancers	Muscle Satellite Cultured Cells	--
7	chr20:15740200-15741200	Enhancers	Ovary	ovary
8	chr20:15740200-15741600	Enhancers	Fetal Muscle Leg	muscle
9	chr20:15740200-15741800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr20:15740200-15743200	Enhancers	Placenta Amnion	Placenta Amnion
11	chr20:15740400-15741200	Weak transcription	Fetal Brain Female	brain
12	chr20:15740400-15741200	Enhancers	Placenta	Placenta
13	chr20:15740400-15741400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr20:15740400-15741400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr20:15740400-15741400	Enhancers	HSMMtube	muscle
16	chr20:15740400-15741600	Flanking Active TSS	Colon Smooth Muscle	Colon
17	chr20:15740400-15741600	Enhancers	Fetal Heart	heart
18	chr20:15740400-15741600	Enhancers	HSMM	muscle
19	chr20:15740600-15741200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr20:15740600-15741400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr20:15740600-15741400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr20:15740600-15741400	Flanking Active TSS	Rectal Smooth Muscle	rectum
23	chr20:15740800-15741200	Flanking Active TSS	Brain Cingulate Gyrus	brain
24	chr20:15740800-15741200	Flanking Active TSS	Brain Hippocampus Middle	brain
25	chr20:15740800-15741200	Enhancers	Fetal Muscle Trunk	muscle
26	chr20:15740800-15741400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr20:15740800-15741400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
28	chr20:15740800-15741400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
29	chr20:15740800-15741400	Flanking Active TSS	Stomach Smooth Muscle	stomach
30	chr20:15740800-15743600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr20:15740800-15744400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr20:15741000-15741200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr20:15741000-15741200	Flanking Active TSS	Brain Substantia Nigra	brain
34	chr20:15741000-15741200	Enhancers	Duodenum Smooth Muscle	Duodenum
35	chr20:15741000-15741400	Bivalent Enhancer	Fetal Stomach	stomach

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