Variant report

Variant	rs16926270
Chromosome Location	chr8:61448731-61448732
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:61446080..61449984-chr8:61450187..61453162,6	K562	blood:
2	chr8:61445869..61450091-chr8:61450711..61454496,4	K562	blood:

Extended variants
information (count: 76 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs1351706	0.84[JPT][hapmap]
rs1384687	0.94[CEU][hapmap];0.85[EUR][1000 genomes]
rs16918852	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap]
rs16926096	0.87[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap]
rs16926104	0.87[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap]
rs16926133	0.82[ASN][1000 genomes]
rs16926137	0.82[ASN][1000 genomes]
rs16926155	0.82[ASN][1000 genomes]
rs16926208	0.82[ASN][1000 genomes]
rs16926284	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16926294	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	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1941462	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2007283	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2178953	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2186985	0.82[ASN][1000 genomes]
rs3735827	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55761966	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55831959	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55837608	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55841758	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56030634	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56114656	0.90[ASN][1000 genomes]
rs56123131	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56141796	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56160504	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56165842	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56192263	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56332284	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56342714	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57297574	0.82[ASN][1000 genomes]
rs57550331	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	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60012828	0.85[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	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs61120651	0.95[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6471892	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6980590	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6981694	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs6983084	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap]
rs7016685	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs714207	0.80[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	0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs72648567	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72648576	0.95[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72648589	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72648590	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72648594	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72648597	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72648602	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72650405	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72650416	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72650417	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	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7825009	0.84[AMR][1000 genomes];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	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs922611	0.82[ASN][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	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
3	nsv972537	chr8:61443763-61449601	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:61433800-61472600	Weak transcription	HUVEC	blood vessel
2	chr8:61434600-61467600	Weak transcription	Fetal Muscle Trunk	muscle
3	chr8:61434600-61472600	Weak transcription	Placenta	Placenta
4	chr8:61434800-61452200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr8:61434800-61458000	Weak transcription	Dnd41	blood
6	chr8:61434800-61480600	Weak transcription	HMEC	breast
7	chr8:61435400-61470800	Weak transcription	NHEK	skin
8	chr8:61435400-61471800	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr8:61437000-61450200	Weak transcription	Fetal Stomach	stomach
10	chr8:61437200-61462600	Weak transcription	NH-A	brain
11	chr8:61437400-61463200	Weak transcription	HSMM	muscle
12	chr8:61437600-61451000	Weak transcription	Stomach Smooth Muscle	stomach
13	chr8:61438000-61449800	Weak transcription	Aorta	Aorta
14	chr8:61438000-61488600	Weak transcription	Fetal Brain Female	brain
15	chr8:61438200-61450800	Weak transcription	Duodenum Mucosa	Duodenum
16	chr8:61438400-61469600	Weak transcription	Primary hematopoietic stem cells	blood
17	chr8:61439000-61453000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr8:61439400-61455800	Weak transcription	Fetal Thymus	thymus
19	chr8:61439400-61494600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr8:61439600-61448800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
21	chr8:61440000-61449800	Weak transcription	Esophagus	oesophagus
22	chr8:61440200-61450000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr8:61440800-61480000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr8:61443800-61472800	Weak transcription	Thymus	Thymus
25	chr8:61444000-61462800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr8:61444400-61448800	Enhancers	Right Ventricle	heart
27	chr8:61444800-61453400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr8:61445400-61449800	Weak transcription	Fetal Intestine Small	intestine
29	chr8:61445400-61450200	Enhancers	Primary T helper cells PMA-I stimulated	--
30	chr8:61445400-61450200	Weak transcription	Fetal Muscle Leg	muscle
31	chr8:61445600-61449800	Weak transcription	Primary T cells fromperipheralblood	blood
32	chr8:61446000-61462400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr8:61446200-61448800	Enhancers	Primary T killer memory cells from peripheral blood	blood
34	chr8:61446200-61451000	Weak transcription	Brain Substantia Nigra	brain
35	chr8:61446400-61448800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
36	chr8:61446400-61449800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr8:61446400-61450000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr8:61446400-61450200	Enhancers	Adipose Nuclei	Adipose
39	chr8:61446600-61448800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr8:61446600-61448800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
41	chr8:61446600-61449600	Enhancers	Liver	Liver
42	chr8:61446600-61449800	Enhancers	Osteobl	bone
43	chr8:61446800-61448800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
44	chr8:61446800-61448800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr8:61446800-61448800	Enhancers	Brain Hippocampus Middle	brain
46	chr8:61446800-61448800	Enhancers	Pancreatic Islets	Pancreatic Islet
47	chr8:61446800-61448800	Enhancers	NHDF-Ad	bronchial
48	chr8:61446800-61455400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr8:61446800-61459200	Weak transcription	Fetal Intestine Large	intestine
50	chr8:61447200-61448800	Enhancers	Fetal Heart	heart

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