Variant report

Variant	rs10213989
Chromosome Location	chr5:119845160-119845161
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:119802488..119804867-chr5:119844244..119845883,2	K562	blood:

Extended variants
information (count: 77 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs10035683	0.81[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes]
rs10052263	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10052334	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs10060164	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10064623	0.81[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs10064951	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10065330	0.97[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs10477605	0.81[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs10478471	0.91[AFR][1000 genomes]
rs10478472	0.81[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs10478473	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10478474	0.81[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs10519636	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11949016	0.95[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs13356306	0.90[AFR][1000 genomes]
rs13357191	0.82[AFR][1000 genomes]
rs13359288	0.85[AFR][1000 genomes]
rs13361121	0.81[CEU][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs1378262	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1454982	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs16766	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17146657	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs17146662	1.00[CHB][hapmap]
rs17146705	0.95[ASN][1000 genomes]
rs1823926	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1823927	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2601208	1.00[CHB][hapmap]
rs2601209	1.00[JPT][hapmap]
rs2601210	0.85[AFR][1000 genomes]
rs2601211	1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs2604163	0.84[YRI][hapmap];0.83[AFR][1000 genomes]
rs2604164	1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs2604165	0.96[YRI][hapmap];0.84[AFR][1000 genomes]
rs2655066	0.81[CEU][hapmap];0.84[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs2655067	1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs2655069	0.93[YRI][hapmap]
rs2691094	0.81[AFR][1000 genomes]
rs2691097	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[YRI][hapmap];0.82[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs2691100	0.81[CEU][hapmap];1.00[JPT][hapmap];0.97[YRI][hapmap];0.84[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs300956	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs300957	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[EUR][1000 genomes]
rs3991306	1.00[ASN][1000 genomes]
rs4476747	1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs4895261	0.93[CEU][hapmap]
rs6595239	0.81[CEU][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes]
rs6865123	0.81[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs6871554	0.83[AFR][1000 genomes]
rs6882134	0.89[AFR][1000 genomes]
rs6892665	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6895369	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72786260	0.91[ASN][1000 genomes]
rs72788222	0.91[ASN][1000 genomes]
rs72788223	0.95[ASN][1000 genomes]
rs72788224	0.95[ASN][1000 genomes]
rs72788231	0.95[ASN][1000 genomes]
rs72788238	0.91[ASN][1000 genomes]
rs7448156	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs7702580	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7706025	1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs7710004	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7710626	0.81[CEU][hapmap];0.96[AFR][1000 genomes]
rs7710848	0.93[YRI][hapmap];0.86[AFR][1000 genomes]
rs7710928	0.85[CEU][hapmap];0.93[YRI][hapmap];0.84[AFR][1000 genomes]
rs7712847	0.82[AFR][1000 genomes]
rs7715549	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7728098	0.97[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs7733602	1.00[CEU][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs921782	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9327144	1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs9327145	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9327146	0.97[YRI][hapmap];1.00[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs9687538	1.00[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	nsv532200	chr5:119317901-120102513	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv830463	chr5:119806643-119968825	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv462427	chr5:119838923-119928674	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv599601	chr5:119838923-119928674	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv1031453	chr5:119843593-120393038	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:119818200-119845600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr5:119836400-119852400	Weak transcription	HSMM	muscle
3	chr5:119839800-119879800	Weak transcription	Psoas Muscle	Psoas
4	chr5:119842600-119852400	Weak transcription	Aorta	Aorta
5	chr5:119843400-119845200	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr5:119843400-119848000	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr5:119843600-119845200	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr5:119843600-119845200	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr5:119843600-119845400	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr5:119843800-119846200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr5:119844000-119845800	Weak transcription	Osteobl	bone
12	chr5:119844000-119846000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr5:119844000-119846600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr5:119844000-119847800	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr5:119844200-119846000	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr5:119844200-119846600	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr5:119844200-119847400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr5:119844200-119864200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr5:119844600-119847400	Enhancers	K562	blood
20	chr5:119844800-119845400	Enhancers	H1 Cell Line	embryonic stem cell
21	chr5:119844800-119845800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr5:119844800-119846200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr5:119845000-119845200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
24	chr5:119845000-119845200	Enhancers	Fetal Lung	lung
25	chr5:119845000-119845400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr5:119845000-119845400	Flanking Active TSS	NHDF-Ad	bronchial
27	chr5:119845000-119852200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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