Variant report

Variant	rs17449723
Chromosome Location	chr5:107484477-107484478
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs10515384	0.84[EUR][1000 genomes]
rs10515385	0.83[JPT][hapmap]
rs11242664	0.83[JPT][hapmap]
rs12651724	0.92[CEU][hapmap];0.93[CHB][hapmap];0.87[JPT][hapmap];0.84[EUR][1000 genomes]
rs12651919	0.81[CEU][hapmap]
rs12652306	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12652643	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12652687	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12652883	0.81[CHB][hapmap];1.00[AFR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12654751	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12655475	1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12655932	1.00[CEU][hapmap];0.93[CHB][hapmap];0.81[EUR][1000 genomes]
rs12657542	0.85[AMR][1000 genomes]
rs12659666	1.00[CEU][hapmap];0.87[CHB][hapmap];0.88[JPT][hapmap];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13357987	1.00[CEU][hapmap];0.93[CHB][hapmap];0.85[JPT][hapmap];0.84[EUR][1000 genomes]
rs17381296	0.93[CEU][hapmap];0.87[CHB][hapmap];0.87[JPT][hapmap];0.84[EUR][1000 genomes]
rs17382278	1.00[CEU][hapmap];0.87[CHB][hapmap];0.87[JPT][hapmap];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17383035	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17384285	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17386492	0.89[AFR][1000 genomes]
rs17386875	0.83[JPT][hapmap]
rs17387645	0.89[AFR][1000 genomes]
rs17438307	0.81[CEU][hapmap]
rs17440508	1.00[CEU][hapmap];0.87[CHB][hapmap];0.88[JPT][hapmap];0.84[EUR][1000 genomes]
rs17440818	1.00[CEU][hapmap];0.87[CHB][hapmap];0.88[JPT][hapmap];0.84[EUR][1000 genomes]
rs17440916	1.00[CEU][hapmap];0.87[CHB][hapmap];0.88[JPT][hapmap];0.84[EUR][1000 genomes]
rs17441920	1.00[CEU][hapmap];0.87[CHB][hapmap];0.88[JPT][hapmap];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17442211	1.00[CEU][hapmap];0.87[CHB][hapmap];0.91[JPT][hapmap];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17442556	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap]
rs17442864	0.92[CHB][hapmap];0.88[JPT][hapmap];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17443045	0.87[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17449654	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17450705	0.83[JPT][hapmap]
rs17452992	0.89[AFR][1000 genomes]
rs2042187	1.00[CEU][hapmap];0.86[CHB][hapmap];0.88[JPT][hapmap];0.84[EUR][1000 genomes]
rs286821	0.81[CHB][hapmap]
rs34385	0.81[CHB][hapmap]
rs34410	0.81[CHB][hapmap]
rs4144476	1.00[CEU][hapmap];0.93[CHB][hapmap];0.85[JPT][hapmap];0.84[EUR][1000 genomes]
rs4144478	1.00[CEU][hapmap];0.91[CHB][hapmap];0.85[JPT][hapmap];0.84[EUR][1000 genomes]
rs4404664	0.95[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs55862455	0.95[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56108486	0.84[EUR][1000 genomes]
rs56287990	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58805667	0.81[EUR][1000 genomes]
rs59356989	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs59606487	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs59830006	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs60447697	0.84[EUR][1000 genomes]
rs6864731	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6865057	1.00[CEU][hapmap];0.87[CHB][hapmap];0.86[JPT][hapmap];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6872068	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6872913	0.84[EUR][1000 genomes]
rs6884026	0.95[AFR][1000 genomes];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6888190	0.85[AMR][1000 genomes]
rs6889772	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6890052	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs723397	0.93[CEU][hapmap]
rs72791270	0.89[AFR][1000 genomes]
rs73206538	0.81[EUR][1000 genomes]
rs7703032	0.89[AFR][1000 genomes]
rs7704251	1.00[CEU][hapmap];0.86[CHB][hapmap];0.88[JPT][hapmap];0.81[EUR][1000 genomes]
rs7711717	0.89[AFR][1000 genomes]
rs7724860	0.89[AFR][1000 genomes]
rs7724884	0.89[AFR][1000 genomes]
rs7731562	1.00[CEU][hapmap];0.93[CHB][hapmap];0.85[JPT][hapmap];0.84[EUR][1000 genomes]
rs7733036	0.89[AFR][1000 genomes]
rs7735773	1.00[CEU][hapmap];0.93[CHB][hapmap];0.85[JPT][hapmap];0.84[EUR][1000 genomes]
rs888792	0.80[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534281	chr5:107357579-107674981	Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv830441	chr5:107450392-107614557	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv882683	chr5:107476501-107769095	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:107388400-107510800	Weak transcription	Primary B cells from cord blood	blood
2	chr5:107474600-107511000	Weak transcription	Primary T cells from cord blood	blood
3	chr5:107475200-107527400	Weak transcription	Liver	Liver
4	chr5:107475800-107510400	Weak transcription	Fetal Intestine Small	intestine
5	chr5:107476000-107535600	Weak transcription	Left Ventricle	heart
6	chr5:107477600-107486000	Weak transcription	Psoas Muscle	Psoas
7	chr5:107478800-107488400	Weak transcription	Fetal Lung	lung
8	chr5:107479400-107486000	Weak transcription	Pancreas	Pancrea
9	chr5:107480000-107484600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr5:107480000-107484600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr5:107480400-107500000	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr5:107480800-107521000	Weak transcription	Primary hematopoietic stem cells	blood
13	chr5:107481000-107496400	Weak transcription	Primary B cells from peripheral blood	blood
14	chr5:107481000-107498400	Weak transcription	Fetal Intestine Large	intestine
15	chr5:107481200-107484800	Weak transcription	Esophagus	oesophagus
16	chr5:107481400-107484800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr5:107481600-107504400	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr5:107482000-107484600	Weak transcription	Primary T helper cells PMA-I stimulated	--
19	chr5:107482000-107510800	Weak transcription	Duodenum Mucosa	Duodenum
20	chr5:107482400-107498400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr5:107483000-107484600	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr5:107484000-107484600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr5:107484200-107485600	Enhancers	Fetal Heart	heart
24	chr5:107484400-107484800	Enhancers	Pancreatic Islets	Pancreatic Islet

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