Variant report

Variant	rs74078643
Chromosome Location	chr1:63096126-63096127
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10493323	1.00[EUR][1000 genomes]
rs1168121	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12563308	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12563863	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12565895	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12566265	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1408480	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17123615	1.00[EUR][1000 genomes]
rs17123688	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17123694	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17123705	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17123712	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17123721	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17123725	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17123740	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17123743	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2016736	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34898550	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs36157139	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3737890	1.00[EUR][1000 genomes]
rs55709519	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs56094630	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56193814	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56792530	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57022388	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59505425	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs59662235	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59816054	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs60339595	1.00[EUR][1000 genomes]
rs610248	1.00[EUR][1000 genomes]
rs61308091	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61501887	1.00[EUR][1000 genomes]
rs74076653	1.00[EUR][1000 genomes]
rs74076654	1.00[EUR][1000 genomes]
rs74076668	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs74076670	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs74076686	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs74076689	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs74076691	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs74076695	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs74076699	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs74076907	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs74076909	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs74078610	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs74078661	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1817371	chr1:62901935-63129697	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv1014376	chr1:62976472-63181359	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv870559	chr1:63057136-63113719	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1000988	chr1:63061791-63107526	Enhancers Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:63007200-63096200	Weak transcription	HUVEC	blood vessel
2	chr1:63036800-63113600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr1:63066800-63112200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr1:63074400-63099000	Weak transcription	Brain Hippocampus Middle	brain
5	chr1:63075600-63106600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr1:63075800-63099000	Weak transcription	Fetal Brain Male	brain
7	chr1:63076400-63097000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr1:63079200-63098800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr1:63079200-63099000	Weak transcription	Brain Angular Gyrus	brain
10	chr1:63079800-63108800	Weak transcription	Primary B cells from cord blood	blood
11	chr1:63082200-63099200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr1:63082200-63121000	Weak transcription	Primary T helper cells PMA-I stimulated	--
13	chr1:63082400-63098800	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr1:63082800-63132600	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr1:63083400-63119000	Weak transcription	Fetal Thymus	thymus
16	chr1:63084800-63121000	Weak transcription	Small Intestine	intestine
17	chr1:63085400-63113600	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr1:63085800-63097000	Weak transcription	Colonic Mucosa	Colon
19	chr1:63086400-63110600	Weak transcription	Rectal Smooth Muscle	rectum
20	chr1:63087400-63098800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr1:63087800-63106200	Weak transcription	Gastric	stomach
22	chr1:63087800-63106600	Weak transcription	Pancreas	Pancrea
23	chr1:63088000-63105200	Weak transcription	Fetal Heart	heart
24	chr1:63088000-63105400	Weak transcription	Hela-S3	cervix
25	chr1:63088000-63111400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr1:63088000-63134600	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr1:63088200-63101200	Weak transcription	Stomach Mucosa	stomach
28	chr1:63088800-63096200	Weak transcription	Placenta	Placenta
29	chr1:63089200-63105200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr1:63089600-63098600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr1:63089800-63099000	Weak transcription	A549	lung
32	chr1:63090600-63097800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr1:63092400-63099000	Weak transcription	GM12878-XiMat	blood
34	chr1:63092400-63101800	Strong transcription	Cortex derived primary cultured neurospheres	brain
35	chr1:63093800-63100000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr1:63093800-63101000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr1:63094000-63098200	Weak transcription	Psoas Muscle	Psoas
38	chr1:63094000-63106400	Weak transcription	Brain Substantia Nigra	brain
39	chr1:63094200-63099000	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr1:63094400-63099200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr1:63094600-63096400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr1:63094600-63103600	Strong transcription	NHDF-Ad	bronchial
43	chr1:63094600-63106600	Weak transcription	Right Ventricle	heart
44	chr1:63094800-63100400	Strong transcription	Dnd41	blood
45	chr1:63095000-63099000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr1:63095000-63099200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr1:63095000-63099600	Strong transcription	Duodenum Smooth Muscle	Duodenum
48	chr1:63095000-63099600	Strong transcription	Fetal Lung	lung
49	chr1:63095000-63102000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr1:63095000-63102000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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