Variant report

Variant	rs6108984
Chromosome Location	chr20:11433957-11433958
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs11698237	1.00[AMR][1000 genomes]
rs13433255	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2207115	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57336143	1.00[AMR][1000 genomes]
rs58524115	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58755628	1.00[AMR][1000 genomes]
rs60417076	0.95[AFR][1000 genomes]
rs60852377	1.00[AMR][1000 genomes]
rs6104756	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6104758	1.00[AFR][1000 genomes]
rs6104762	0.95[AFR][1000 genomes]
rs6108971	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6108972	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6108973	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6108987	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6108991	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6109007	1.00[AFR][1000 genomes]
rs6109008	0.95[AFR][1000 genomes]
rs6109016	0.95[AFR][1000 genomes]
rs6109017	0.95[AFR][1000 genomes]
rs6109018	0.95[AFR][1000 genomes]
rs6109019	0.95[AFR][1000 genomes]
rs61136676	1.00[AMR][1000 genomes]
rs7267502	1.00[AMR][1000 genomes]
rs73259525	1.00[AMR][1000 genomes]
rs73896349	1.00[AMR][1000 genomes]
rs73896362	1.00[AMR][1000 genomes]
rs73896367	1.00[AMR][1000 genomes]
rs73896368	1.00[AMR][1000 genomes]
rs73896370	1.00[AMR][1000 genomes]
rs73896387	1.00[AMR][1000 genomes]
rs73896399	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73896400	1.00[AMR][1000 genomes]
rs73899009	1.00[AMR][1000 genomes]
rs977277	1.00[AFR][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	nsv432099	chr20:11371093-11476900	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv1058734	chr20:11389232-11479953	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv522929	chr20:11411026-11516418	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:11431600-11434000	Enhancers	Fetal Muscle Leg	muscle
2	chr20:11432200-11434000	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr20:11432200-11434200	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr20:11432200-11434200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr20:11432200-11434200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr20:11432200-11434400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr20:11432200-11434400	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr20:11432200-11434400	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr20:11432200-11434600	Enhancers	HMEC	breast
10	chr20:11432200-11435200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr20:11432200-11435600	Enhancers	Muscle Satellite Cultured Cells	--
12	chr20:11432200-11435600	Enhancers	HSMM	muscle
13	chr20:11432200-11435600	Enhancers	NHEK	skin
14	chr20:11432200-11437000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr20:11432200-11437200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr20:11432200-11438800	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr20:11432400-11434000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr20:11432400-11434200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr20:11432400-11434400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr20:11432400-11434800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr20:11432400-11435200	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr20:11432400-11435800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr20:11432400-11435800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr20:11432400-11436400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr20:11432400-11437000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr20:11432400-11437000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr20:11432400-11437200	Enhancers	Fetal Intestine Small	intestine
28	chr20:11432600-11434000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr20:11432600-11434000	Enhancers	Primary hematopoietic stem cells short term culture	blood
30	chr20:11432600-11434200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
31	chr20:11432600-11435000	Enhancers	Esophagus	oesophagus
32	chr20:11432600-11435800	Enhancers	Hela-S3	cervix
33	chr20:11432600-11436800	Enhancers	Osteobl	bone
34	chr20:11432800-11434000	Enhancers	Skeletal Muscle Female	skeletal muscle
35	chr20:11432800-11434600	Weak transcription	Fetal Intestine Large	intestine
36	chr20:11432800-11435600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr20:11433000-11434200	Enhancers	Primary hematopoietic stem cells	blood
38	chr20:11433000-11434400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr20:11433000-11435400	Enhancers	HUVEC	blood vessel
40	chr20:11433200-11434600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr20:11433200-11435800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
42	chr20:11433200-11435800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr20:11433200-11435800	Weak transcription	Rectal Smooth Muscle	rectum
44	chr20:11433400-11434800	Weak transcription	Psoas Muscle	Psoas
45	chr20:11433400-11435400	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr20:11433400-11435600	Weak transcription	HSMMtube	muscle
47	chr20:11433400-11435600	Enhancers	NH-A	brain
48	chr20:11433600-11434400	Enhancers	Primary neutrophils fromperipheralblood	blood
49	chr20:11433600-11434400	Flanking Active TSS	A549	lung
50	chr20:11433800-11434000	Enhancers	H9 Cell Line	embryonic stem cell

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