Variant report

Variant	rs59495531
Chromosome Location	chr8:121745588-121745589
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 92 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:90)

rs_ID	r²[population]
rs11985259	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11988440	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11992018	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11993293	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11996189	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11996216	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11997006	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12541284	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12541677	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12542152	0.98[ASN][1000 genomes]
rs12542405	0.80[ASN][1000 genomes]
rs12542693	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12542730	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12543043	0.80[ASN][1000 genomes]
rs12543097	0.80[ASN][1000 genomes]
rs12544282	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12544827	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12545393	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12546661	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12547255	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12547287	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12547322	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12548040	0.80[ASN][1000 genomes]
rs12549873	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1301	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34195100	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34720806	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35008761	0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35204989	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35216013	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4242320	0.80[ASN][1000 genomes]
rs4242322	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4242323	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4389985	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4389986	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4870748	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4870749	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4870750	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4871103	0.80[ASN][1000 genomes]
rs4871104	0.80[ASN][1000 genomes]
rs4871105	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4871106	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4871107	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4871108	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4871109	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4871110	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4871111	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4871114	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4871115	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4871116	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4871117	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4871119	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4871121	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4871122	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4871123	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4871124	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4871125	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55723447	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56157701	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56194133	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56212702	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56673060	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56859072	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57196351	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57612767	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57785870	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57991594	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58269070	0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs58328371	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58528057	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58800370	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59476730	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59586775	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59793689	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60631202	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61336384	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61670592	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73321301	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73321302	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73323116	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73323122	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73323125	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73323130	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73323131	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73323132	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73323135	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73323143	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73323148	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73710013	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73710058	0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016172	chr8:121679590-121929916	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv891422	chr8:121680857-121819478	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:121730000-121747400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr8:121730400-121746600	Weak transcription	Monocytes-CD14+_RO01746	blood
3	chr8:121730400-121747400	Weak transcription	Colonic Mucosa	Colon
4	chr8:121730600-121747000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr8:121731000-121757400	Weak transcription	Lung	lung
6	chr8:121737200-121746800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr8:121737400-121747800	Weak transcription	Gastric	stomach
8	chr8:121737600-121747600	Weak transcription	Small Intestine	intestine
9	chr8:121739600-121746800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr8:121739600-121750200	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr8:121739600-121758000	Weak transcription	NHLF	lung
12	chr8:121741400-121746600	Weak transcription	Liver	Liver
13	chr8:121742200-121753200	Weak transcription	Fetal Kidney	kidney
14	chr8:121742200-121754600	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr8:121742200-121757200	Weak transcription	HSMM	muscle
16	chr8:121742400-121749800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr8:121742600-121748800	Weak transcription	Psoas Muscle	Psoas
18	chr8:121742800-121745800	Enhancers	Dnd41	blood
19	chr8:121742800-121748600	Weak transcription	Fetal Muscle Leg	muscle
20	chr8:121742800-121750600	Weak transcription	Fetal Muscle Trunk	muscle
21	chr8:121743000-121745600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr8:121743200-121745600	Enhancers	Primary hematopoietic stem cells	blood
23	chr8:121743200-121745800	Flanking Active TSS	Primary T cells from cord blood	blood
24	chr8:121743800-121747400	Weak transcription	NHDF-Ad	bronchial
25	chr8:121743800-121747400	Weak transcription	Osteobl	bone
26	chr8:121743800-121750600	Weak transcription	Fetal Intestine Large	intestine
27	chr8:121744000-121745800	Enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr8:121744000-121746400	Weak transcription	Primary monocytes fromperipheralblood	blood
29	chr8:121744400-121746200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr8:121744400-121746600	Weak transcription	Primary neutrophils fromperipheralblood	blood
31	chr8:121744400-121747400	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr8:121744600-121745600	Strong transcription	HepG2	liver
33	chr8:121744600-121745800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr8:121744600-121745800	Enhancers	Fetal Thymus	thymus
35	chr8:121744600-121745800	Enhancers	HSMMtube	muscle
36	chr8:121744600-121748600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
37	chr8:121744800-121745800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
38	chr8:121744800-121745800	Enhancers	Fetal Stomach	stomach
39	chr8:121745000-121745600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
40	chr8:121745000-121745600	Enhancers	GM12878-XiMat	blood
41	chr8:121745000-121745800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
42	chr8:121745000-121745800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
43	chr8:121745000-121745800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
44	chr8:121745200-121745600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr8:121745200-121745600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr8:121745200-121748600	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr8:121745200-121749400	Enhancers	Primary T helper cells PMA-I stimulated	--
48	chr8:121745200-121761200	Enhancers	Primary T helper cells fromperipheralblood	blood
49	chr8:121745400-121745800	Enhancers	Pancreas	Pancrea
50	chr8:121745400-121746000	Enhancers	Primary T regulatory cells fromperipheralblood	blood

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