Variant report

Variant	rs4738723
Chromosome Location	chr8:59776637-59776638
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10504266	0.81[EUR][1000 genomes]
rs10504267	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13260651	0.85[CEU][hapmap];0.89[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[TSI][hapmap];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13281543	0.81[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1349115	0.81[CEU][hapmap];0.91[TSI][hapmap]
rs1375187	0.85[CEU][hapmap];0.91[TSI][hapmap]
rs1375188	0.85[CEU][hapmap]
rs4738721	0.85[CEU][hapmap];0.89[CHB][hapmap];0.94[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.93[TSI][hapmap];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4738722	0.85[CEU][hapmap];0.91[TSI][hapmap]
rs4738724	0.85[CEU][hapmap]
rs4738725	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7017464	0.85[CEU][hapmap];0.89[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[TSI][hapmap];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7819721	0.85[CEU][hapmap]
rs7838499	0.82[GIH][hapmap];0.87[TSI][hapmap]
rs7844725	0.84[CEU][hapmap]

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	nsv890938	chr8:59355053-59809785	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:59758400-59777400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr8:59761000-59777200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr8:59764200-59777600	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr8:59764200-59806400	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr8:59771200-59777200	Weak transcription	Aorta	Aorta
6	chr8:59771200-59777200	Weak transcription	Brain Hippocampus Middle	brain
7	chr8:59771400-59776800	Weak transcription	Rectal Smooth Muscle	rectum
8	chr8:59771400-59777000	Weak transcription	Brain Anterior Caudate	brain
9	chr8:59771400-59777200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr8:59771400-59777200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr8:59771400-59777200	Weak transcription	Brain Angular Gyrus	brain
12	chr8:59771400-59777200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr8:59771400-59777200	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr8:59771400-59777200	Weak transcription	Fetal Lung	lung
15	chr8:59771400-59777400	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr8:59771400-59777600	Weak transcription	Gastric	stomach
17	chr8:59771400-59811000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr8:59771600-59777000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr8:59771600-59777000	Weak transcription	Stomach Smooth Muscle	stomach
20	chr8:59771600-59794000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr8:59772400-59777000	Weak transcription	HUVEC	blood vessel
22	chr8:59772600-59794400	Weak transcription	Small Intestine	intestine
23	chr8:59773200-59777600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr8:59773400-59777200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr8:59773400-59777200	Weak transcription	HSMMtube	muscle
26	chr8:59773400-59808200	Weak transcription	Thymus	Thymus
27	chr8:59773600-59777000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr8:59773800-59777200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr8:59773800-59777200	Weak transcription	HSMM	muscle
30	chr8:59773800-59777200	Weak transcription	NH-A	brain
31	chr8:59773800-59785000	Weak transcription	Dnd41	blood
32	chr8:59774000-59777200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr8:59774000-59781000	Weak transcription	Primary hematopoietic stem cells	blood
34	chr8:59774200-59777000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr8:59774200-59777000	Weak transcription	Fetal Stomach	stomach
36	chr8:59774200-59777200	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr8:59774200-59779800	Weak transcription	Fetal Thymus	thymus
38	chr8:59774400-59777200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr8:59774400-59777200	Weak transcription	NHDF-Ad	bronchial
40	chr8:59774400-59777600	Weak transcription	Fetal Kidney	kidney
41	chr8:59774600-59777000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr8:59774600-59789600	Weak transcription	Primary T cells from cord blood	blood
43	chr8:59775200-59776800	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr8:59775400-59777400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr8:59775800-59777200	Enhancers	Pancreatic Islets	Pancreatic Islet
46	chr8:59776000-59777000	Weak transcription	Brain Substantia Nigra	brain
47	chr8:59776400-59778200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr8:59776600-59777000	Weak transcription	Colon Smooth Muscle	Colon
49	chr8:59776600-59777000	Enhancers	Osteobl	bone
50	chr8:59776600-59779000	Weak transcription	Brain Germinal Matrix	brain

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