Variant report

Variant	rs6594338
Chromosome Location	chr5:108127258-108127259
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10038669	0.89[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs10044305	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10045220	0.86[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs10060694	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10062204	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10063167	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10073668	0.89[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs10079165	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10477431	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13180513	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2081126	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2081129	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2081130	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28637651	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28651469	0.81[EUR][1000 genomes]
rs2900035	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34125469	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35398495	0.86[AFR][1000 genomes]
rs6594340	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6873068	0.89[AFR][1000 genomes]
rs6874229	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6875320	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6880284	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6889550	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6891194	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6895027	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7709267	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7710482	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7712834	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7712956	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7725391	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7726708	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7731891	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7735235	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9326747	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9326748	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9885082	0.80[ASN][1000 genomes]
rs9885168	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]

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	nsv882689	chr5:107595383-108299744	Enhancers ZNF genes & repeats Active TSS Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:108090200-108127600	Weak transcription	NH-A	brain
2	chr5:108096400-108134000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr5:108098400-108128000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr5:108101600-108127600	Weak transcription	Osteobl	bone
5	chr5:108105400-108130600	Weak transcription	Rectal Smooth Muscle	rectum
6	chr5:108105400-108133200	Weak transcription	NHDF-Ad	bronchial
7	chr5:108112600-108137200	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr5:108117800-108138200	Weak transcription	Liver	Liver
9	chr5:108118000-108132800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr5:108118200-108136800	Weak transcription	NHLF	lung
11	chr5:108120000-108136800	Weak transcription	A549	lung
12	chr5:108120200-108137600	Weak transcription	Spleen	Spleen
13	chr5:108120200-108142200	Weak transcription	Aorta	Aorta
14	chr5:108120600-108146400	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr5:108120800-108146400	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr5:108121000-108138600	Weak transcription	Fetal Kidney	kidney
17	chr5:108121000-108139000	Weak transcription	Primary T cells from cord blood	blood
18	chr5:108121000-108139200	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr5:108121200-108132200	Weak transcription	Fetal Lung	lung
20	chr5:108121200-108132800	Weak transcription	Monocytes-CD14+_RO01746	blood
21	chr5:108121800-108137200	Weak transcription	HSMMtube	muscle
22	chr5:108123000-108138200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr5:108123400-108138200	Weak transcription	Primary B cells from peripheral blood	blood
24	chr5:108123400-108139400	Weak transcription	Primary T helper cells PMA-I stimulated	--
25	chr5:108123800-108131000	Weak transcription	Primary hematopoietic stem cells	blood
26	chr5:108124000-108132600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr5:108124000-108133000	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr5:108124000-108136000	Weak transcription	Fetal Intestine Large	intestine
29	chr5:108124000-108137200	Weak transcription	HSMM	muscle
30	chr5:108124000-108138800	Weak transcription	Fetal Brain Male	brain
31	chr5:108124000-108139200	Weak transcription	Primary B cells from cord blood	blood
32	chr5:108124200-108127400	Weak transcription	NHEK	skin
33	chr5:108124200-108128000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr5:108124200-108128200	Weak transcription	HMEC	breast
35	chr5:108124200-108128800	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr5:108124200-108130400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr5:108124200-108130600	Weak transcription	Brain Germinal Matrix	brain
38	chr5:108124200-108130600	Weak transcription	Fetal Intestine Small	intestine
39	chr5:108124200-108130800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr5:108124200-108131800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr5:108124200-108132000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr5:108124200-108132000	Weak transcription	Fetal Stomach	stomach
43	chr5:108124200-108132200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr5:108124200-108132200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr5:108124200-108132200	Weak transcription	Lung	lung
46	chr5:108124200-108132800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr5:108124200-108133000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr5:108124200-108133000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr5:108124200-108135600	Weak transcription	Adipose Nuclei	Adipose
50	chr5:108124200-108136000	Weak transcription	Right Ventricle	heart

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