Variant report

Variant	rs4813965
Chromosome Location	chr20:11187118-11187119
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1013499	0.93[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs1884163	0.91[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs1884164	0.91[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs2207101	0.93[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs2207412	0.91[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs6033055	0.93[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs6040429	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs6040430	0.93[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs6078099	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6104721	0.93[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs6108864	0.90[CHB][hapmap];0.85[JPT][hapmap];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1065969	chr20:10850562-11464172	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv544181	chr20:10850562-11464172	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv585415	chr20:11134907-11383327	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv585416	chr20:11156775-11190087	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv1056067	chr20:11174581-11213919	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:11184400-11188600	Weak transcription	Aorta	Aorta
2	chr20:11185200-11188200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr20:11185200-11190000	Enhancers	HMEC	breast
4	chr20:11185400-11188200	Enhancers	NHEK	skin
5	chr20:11185400-11189400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr20:11185400-11189600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr20:11185600-11187400	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr20:11185600-11188000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr20:11185600-11189400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr20:11185600-11189600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr20:11186000-11187400	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr20:11186000-11197000	Weak transcription	HSMM	muscle
13	chr20:11186200-11188400	Weak transcription	Colon Smooth Muscle	Colon
14	chr20:11186200-11188400	Weak transcription	Rectal Smooth Muscle	rectum
15	chr20:11186200-11188600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr20:11186200-11188800	Weak transcription	Duodenum Mucosa	Duodenum
17	chr20:11186400-11187400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr20:11186400-11188000	Weak transcription	Stomach Mucosa	stomach
19	chr20:11186400-11188400	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr20:11186400-11192800	Weak transcription	Fetal Kidney	kidney
21	chr20:11186400-11193400	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr20:11186600-11188000	Weak transcription	NH-A	brain
23	chr20:11186600-11188200	Weak transcription	Fetal Intestine Large	intestine
24	chr20:11186600-11188400	Weak transcription	Brain Anterior Caudate	brain
25	chr20:11186600-11188400	Weak transcription	Brain Cingulate Gyrus	brain
26	chr20:11186600-11188400	Weak transcription	Small Intestine	intestine
27	chr20:11186600-11188600	Weak transcription	Brain Hippocampus Middle	brain
28	chr20:11186600-11189200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr20:11186600-11197200	Weak transcription	Pancreas	Pancrea
30	chr20:11186800-11188000	Enhancers	A549	lung
31	chr20:11186800-11188200	Weak transcription	Fetal Intestine Small	intestine
32	chr20:11186800-11188200	Weak transcription	Osteobl	bone
33	chr20:11186800-11188400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr20:11186800-11188400	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr20:11186800-11195200	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr20:11186800-11197600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr20:11187000-11187200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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