Variant report

Variant	rs2207545
Chromosome Location	chr20:11440193-11440194
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10460628	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11906138	0.86[EUR][1000 genomes]
rs12480554	0.86[EUR][1000 genomes]
rs2207905	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2207907	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4142357	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6131210	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6131212	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6131213	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6131219	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6131220	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6131221	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6131226	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6134257	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6134264	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6134265	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6134267	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6134269	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6134270	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6134271	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6134275	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs68160848	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7262680	0.86[EUR][1000 genomes]
rs742825	0.83[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs8114712	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs978690	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs978692	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[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	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:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:11434400-11440200	Weak transcription	Primary neutrophils fromperipheralblood	blood
2	chr20:11436200-11440200	Weak transcription	Rectal Smooth Muscle	rectum
3	chr20:11436200-11441200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr20:11436600-11448400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr20:11437400-11440200	Weak transcription	HUVEC	blood vessel
6	chr20:11437800-11441200	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr20:11437800-11441400	Enhancers	Monocytes-CD14+_RO01746	blood
8	chr20:11438400-11440600	Enhancers	A549	lung
9	chr20:11438400-11440800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr20:11439200-11440200	Enhancers	Fetal Intestine Small	intestine
11	chr20:11439200-11440400	Enhancers	Rectal Mucosa Donor 31	rectum
12	chr20:11439200-11440600	Enhancers	Fetal Intestine Large	intestine
13	chr20:11439400-11440200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr20:11439400-11440400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr20:11439400-11440600	Enhancers	Colon Smooth Muscle	Colon
16	chr20:11439600-11440200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr20:11439600-11440400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr20:11439600-11440400	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr20:11439600-11441200	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr20:11439800-11440200	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr20:11439800-11440400	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr20:11439800-11440400	Enhancers	NHEK	skin
23	chr20:11439800-11440600	Enhancers	HSMMtube	muscle
24	chr20:11440000-11440200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr20:11440000-11440200	Enhancers	HMEC	breast
26	chr20:11440000-11440400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
27	chr20:11440000-11440400	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr20:11440000-11440400	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr20:11440000-11440600	Enhancers	iPS-15b Cell Line	embryonic stem cell

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