Variant report

Variant	rs56342714
Chromosome Location	chr8:61439655-61439656
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs1384687	0.85[EUR][1000 genomes]
rs16926133	0.82[ASN][1000 genomes]
rs16926137	0.82[ASN][1000 genomes]
rs16926155	0.82[ASN][1000 genomes]
rs16926208	0.82[ASN][1000 genomes]
rs16926270	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16926284	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16926294	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16926324	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16926354	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16926358	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1893273	0.96[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1941462	0.96[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2007283	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2178953	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2186985	0.82[ASN][1000 genomes]
rs3735827	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55761966	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55831959	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55837608	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55841758	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56030634	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56114656	0.90[ASN][1000 genomes]
rs56123131	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56141796	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56160504	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56165842	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56192263	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56332284	0.81[AFR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57297574	0.82[ASN][1000 genomes]
rs57550331	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58183709	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs59162154	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs59861870	0.96[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60012828	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60183060	0.90[ASN][1000 genomes]
rs60369157	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs60991551	0.87[ASN][1000 genomes]
rs61120651	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6471892	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6980590	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6981694	0.82[ASN][1000 genomes]
rs7016685	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs714207	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72648529	0.82[ASN][1000 genomes]
rs72648531	0.82[ASN][1000 genomes]
rs72648552	0.84[ASN][1000 genomes]
rs72648553	0.90[ASN][1000 genomes]
rs72648562	0.88[ASN][1000 genomes]
rs72648567	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72648576	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72648589	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72648590	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72648594	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72648597	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72648602	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72650405	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72650416	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72650417	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72650422	0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72650425	0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7817790	0.96[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7825009	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7825055	0.90[ASN][1000 genomes]
rs7829407	0.82[ASN][1000 genomes]
rs7830976	0.90[ASN][1000 genomes]
rs7845982	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs922611	0.82[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	nsv917756	chr8:60942299-61862796	Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv530383	chr8:61431756-61605551	Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:61431600-61441600	Enhancers	Primary T helper cells fromperipheralblood	blood
2	chr8:61431800-61446800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr8:61432000-61440200	Enhancers	Liver	Liver
4	chr8:61432600-61442600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
5	chr8:61432600-61443000	Weak transcription	Thymus	Thymus
6	chr8:61432600-61446600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr8:61432800-61444000	Enhancers	Primary T helper cells PMA-I stimulated	--
8	chr8:61433200-61441600	Enhancers	Adipose Nuclei	Adipose
9	chr8:61433800-61446600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr8:61433800-61472600	Weak transcription	HUVEC	blood vessel
11	chr8:61434000-61447800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr8:61434600-61467600	Weak transcription	Fetal Muscle Trunk	muscle
13	chr8:61434600-61472600	Weak transcription	Placenta	Placenta
14	chr8:61434800-61445000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr8:61434800-61446000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr8:61434800-61446600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr8:61434800-61452200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr8:61434800-61458000	Weak transcription	Dnd41	blood
19	chr8:61434800-61480600	Weak transcription	HMEC	breast
20	chr8:61435000-61440600	Weak transcription	K562	blood
21	chr8:61435400-61445800	Weak transcription	Fetal Intestine Large	intestine
22	chr8:61435400-61470800	Weak transcription	NHEK	skin
23	chr8:61435400-61471800	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr8:61435600-61446600	Weak transcription	A549	lung
25	chr8:61436600-61440800	Enhancers	Skeletal Muscle Female	skeletal muscle
26	chr8:61436800-61446600	Weak transcription	Hela-S3	cervix
27	chr8:61436800-61447000	Weak transcription	HepG2	liver
28	chr8:61437000-61445200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr8:61437000-61450200	Weak transcription	Fetal Stomach	stomach
30	chr8:61437200-61439800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr8:61437200-61439800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr8:61437200-61440200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr8:61437200-61442600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr8:61437200-61444400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr8:61437200-61462600	Weak transcription	NH-A	brain
36	chr8:61437400-61447000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr8:61437400-61463200	Weak transcription	HSMM	muscle
38	chr8:61437600-61440200	Enhancers	Psoas Muscle	Psoas
39	chr8:61437600-61442000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr8:61437600-61446800	Weak transcription	NHDF-Ad	bronchial
41	chr8:61437600-61451000	Weak transcription	Stomach Smooth Muscle	stomach
42	chr8:61437800-61440400	Weak transcription	Brain Cingulate Gyrus	brain
43	chr8:61437800-61441400	Enhancers	Duodenum Smooth Muscle	Duodenum
44	chr8:61437800-61442800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr8:61437800-61446800	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr8:61437800-61447000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr8:61438000-61439800	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr8:61438000-61439800	Weak transcription	Small Intestine	intestine
49	chr8:61438000-61441200	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr8:61438000-61445000	Weak transcription	Fetal Muscle Leg	muscle

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