Variant report

Variant	rs59484271
Chromosome Location	chr5:127503781-127503782
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10057122	0.84[EUR][1000 genomes]
rs10059867	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10060181	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10060390	0.87[EUR][1000 genomes]
rs10089	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10223203	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10223313	0.90[ASN][1000 genomes]
rs10463838	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10463839	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10478803	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11957052	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13356473	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1559263	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17164310	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17764954	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1842006	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2016015	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2054444	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2228112	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2409109	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3087889	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3792866	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3805606	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3805607	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3805612	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3805615	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4835943	0.86[EUR][1000 genomes]
rs4835944	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4835945	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4836360	0.87[EUR][1000 genomes]
rs4836361	0.87[EUR][1000 genomes]
rs4836363	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4836366	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4836367	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4836368	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4836369	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4836370	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56066100	0.87[EUR][1000 genomes]
rs6595806	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6595807	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6875982	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6887674	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6887847	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72794392	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72794396	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72794400	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72794401	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs736969	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7703634	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7718286	0.87[EUR][1000 genomes]
rs891886	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9968597	0.87[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830482	chr5:127475398-127665377	Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:127441200-127536800	Weak transcription	Colonic Mucosa	Colon
2	chr5:127442400-127525000	Weak transcription	Right Ventricle	heart
3	chr5:127447000-127525000	Weak transcription	Fetal Brain Male	brain
4	chr5:127453600-127525400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr5:127457600-127534400	Weak transcription	Pancreas	Pancrea
6	chr5:127460800-127525200	Weak transcription	Spleen	Spleen
7	chr5:127463200-127533000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr5:127465400-127532200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr5:127467600-127525000	Weak transcription	Thymus	Thymus
10	chr5:127467800-127508000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr5:127468000-127536800	Weak transcription	Fetal Brain Female	brain
12	chr5:127469200-127524200	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr5:127469800-127504200	Weak transcription	Fetal Heart	heart
14	chr5:127471200-127515200	Weak transcription	Brain Germinal Matrix	brain
15	chr5:127473600-127521800	Weak transcription	Fetal Kidney	kidney
16	chr5:127478000-127514400	Weak transcription	Primary neutrophils fromperipheralblood	blood
17	chr5:127478400-127524600	Weak transcription	Small Intestine	intestine
18	chr5:127478600-127531600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr5:127479200-127532200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr5:127480600-127532400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr5:127480600-127534400	Weak transcription	Gastric	stomach
22	chr5:127485000-127536800	Weak transcription	Colon Smooth Muscle	Colon
23	chr5:127488600-127533200	Weak transcription	Stomach Mucosa	stomach
24	chr5:127488800-127505200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr5:127488800-127523600	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr5:127490400-127532800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr5:127490600-127520800	Weak transcription	Dnd41	blood
28	chr5:127490800-127529200	Weak transcription	Aorta	Aorta
29	chr5:127490800-127536600	Weak transcription	Brain Cingulate Gyrus	brain
30	chr5:127491000-127518600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr5:127492200-127527200	Weak transcription	NHDF-Ad	bronchial
32	chr5:127493200-127529200	Weak transcription	Psoas Muscle	Psoas
33	chr5:127494400-127507400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr5:127494400-127516000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr5:127494400-127516200	Weak transcription	Primary hematopoietic stem cells	blood
36	chr5:127494400-127517000	Weak transcription	K562	blood
37	chr5:127494400-127522000	Weak transcription	Brain Substantia Nigra	brain
38	chr5:127494400-127526800	Weak transcription	Fetal Lung	lung
39	chr5:127494400-127534800	Weak transcription	Liver	Liver
40	chr5:127494400-127536800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr5:127494600-127503800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr5:127494600-127504800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr5:127494600-127534400	Weak transcription	HUVEC	blood vessel
44	chr5:127495000-127504400	Weak transcription	Brain Angular Gyrus	brain
45	chr5:127495400-127516200	Weak transcription	Primary T helper cells PMA-I stimulated	--
46	chr5:127496600-127525800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr5:127497800-127520000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr5:127498000-127508000	Weak transcription	Fetal Muscle Trunk	muscle
49	chr5:127498000-127515000	Weak transcription	Primary T cells fromperipheralblood	blood
50	chr5:127498000-127520800	Weak transcription	Fetal Thymus	thymus

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