Variant report

Variant	rs910957
Chromosome Location	chr20:22633854-22633855
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:22633726..22635582-chr20:22639135..22641090,2	K562	blood:
2	chr20:22626256..22628397-chr20:22632199..22635114,3	MCF-7	breast:

Extended variants
information (count: 87 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:82)

rs_ID	r²[population]
rs1007202	0.83[EUR][1000 genomes]
rs1007458	0.83[EUR][1000 genomes]
rs1146365	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1203920	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1203921	0.83[EUR][1000 genomes]
rs1203925	0.85[CEU][hapmap];0.83[EUR][1000 genomes]
rs1203927	0.84[CEU][hapmap];0.92[CHB][hapmap];0.86[JPT][hapmap];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1203928	0.83[EUR][1000 genomes]
rs1203929	0.83[EUR][1000 genomes]
rs1203930	0.83[CEU][hapmap];0.83[EUR][1000 genomes]
rs1203931	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1203932	0.85[CEU][hapmap];0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1203933	0.85[CEU][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1203934	0.85[CEU][hapmap];0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1203935	0.85[CEU][hapmap];0.92[CHB][hapmap];0.86[JPT][hapmap];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1203936	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1203937	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1203938	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1203939	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1203940	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1203941	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1203942	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1203943	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1203944	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1203945	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1203946	0.83[EUR][1000 genomes]
rs1203947	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1203948	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1203949	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1203950	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12479757	0.83[ASN][1000 genomes]
rs1884742	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2145058	0.90[ASN][1000 genomes]
rs2145059	0.84[ASN][1000 genomes]
rs2145060	0.84[ASN][1000 genomes]
rs2145061	0.84[ASN][1000 genomes]
rs2180553	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2224316	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2424436	0.84[CEU][hapmap];0.82[EUR][1000 genomes]
rs2424442	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2424443	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2424444	0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2424446	0.89[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2424447	0.83[AMR][1000 genomes]
rs2424448	0.83[AMR][1000 genomes]
rs2424450	0.94[ASN][1000 genomes]
rs2424451	0.81[AMR][1000 genomes]
rs2424454	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2424456	0.87[ASN][1000 genomes]
rs2424457	0.82[ASN][1000 genomes]
rs2424458	0.84[ASN][1000 genomes]
rs2424459	0.84[ASN][1000 genomes]
rs4815129	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4815130	0.80[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs4815131	0.90[ASN][1000 genomes]
rs4815132	0.90[ASN][1000 genomes]
rs4815134	0.87[ASN][1000 genomes]
rs4815135	0.87[ASN][1000 genomes]
rs55803110	0.84[ASN][1000 genomes]
rs6036168	0.87[ASN][1000 genomes]
rs6036169	0.84[ASN][1000 genomes]
rs6048245	0.84[ASN][1000 genomes]
rs6075931	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6082762	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6082765	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6082774	0.84[ASN][1000 genomes]
rs6082778	0.84[ASN][1000 genomes]
rs6082779	0.84[ASN][1000 genomes]
rs6113758	0.84[ASN][1000 genomes]
rs6132536	0.84[ASN][1000 genomes]
rs6132537	0.84[ASN][1000 genomes]
rs6137712	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6137721	0.84[ASN][1000 genomes]
rs7273357	0.84[ASN][1000 genomes]
rs73304707	0.83[ASN][1000 genomes]
rs747911	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs747912	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs754855	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs910956	0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs910960	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs975525	0.90[ASN][1000 genomes]
rs995734	0.83[EUR][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	nsv428690	chr20:22528757-22649625	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv1064571	chr20:22601105-22645251	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
3	esv3442827	chr20:22632852-22637550	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
4	esv3379368	chr20:22633452-22636850	Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	n/a
5	esv3346402	chr20:22633652-22636850	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:22632400-22634200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
2	chr20:22633000-22634000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr20:22633000-22634400	Enhancers	Colon Smooth Muscle	Colon
4	chr20:22633000-22634800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
5	chr20:22633200-22634200	Bivalent Enhancer	Fetal Muscle Leg	muscle
6	chr20:22633200-22634200	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
7	chr20:22633200-22635800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr20:22633400-22634000	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
9	chr20:22633400-22634200	Enhancers	H1 Cell Line	embryonic stem cell
10	chr20:22633400-22634800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr20:22633400-22635000	Enhancers	HSMM	muscle
12	chr20:22633600-22634000	Enhancers	Muscle Satellite Cultured Cells	--
13	chr20:22633600-22634600	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
14	chr20:22633600-22634800	Enhancers	HSMMtube	muscle
15	chr20:22633800-22634000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
16	chr20:22633800-22634000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr20:22633800-22634000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr20:22633800-22634200	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr20:22633800-22634400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
20	chr20:22633800-22634400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr20:22633800-22634400	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr20:22633800-22634400	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr20:22633800-22634400	Enhancers	Rectal Mucosa Donor 31	rectum
24	chr20:22633800-22635000	Enhancers	HUES6 Cell Line	embryonic stem cell

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