Variant report

Variant	rs8043143
Chromosome Location	chr15:42948674-42948675
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:42942904..42945728-chr15:42947943..42950314,2	K562	blood:

Extended variants
information (count: 75 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10220875	0.81[JPT][hapmap]
rs10438302	0.81[JPT][hapmap]
rs12323990	1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs12324135	0.80[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes]
rs12324838	0.81[CHB][hapmap];0.90[JPT][hapmap]
rs12592374	1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs12592573	1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs12594378	1.00[EUR][1000 genomes]
rs12594600	1.00[EUR][1000 genomes]
rs12594696	1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs12594699	1.00[EUR][1000 genomes]
rs12594724	1.00[EUR][1000 genomes]
rs12594725	1.00[EUR][1000 genomes]
rs12594765	1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs12594858	1.00[CHB][hapmap];0.94[ASN][1000 genomes]
rs1317628	0.81[JPT][hapmap]
rs13380301	0.81[JPT][hapmap]
rs16957037	1.00[MEX][hapmap]
rs16957043	0.89[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.87[EUR][1000 genomes]
rs16957055	1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs16957061	1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs16957063	1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs16957120	1.00[EUR][1000 genomes]
rs16957125	0.81[JPT][hapmap]
rs16957138	0.81[JPT][hapmap]
rs16957178	0.81[JPT][hapmap]
rs16957187	0.81[JPT][hapmap]
rs16957224	0.81[JPT][hapmap]
rs1915242	0.87[EUR][1000 genomes]
rs1915243	0.90[JPT][hapmap];1.00[TSI][hapmap];0.87[EUR][1000 genomes]
rs28437884	1.00[EUR][1000 genomes]
rs28508072	0.92[ASN][1000 genomes]
rs28680600	1.00[EUR][1000 genomes]
rs28699522	0.87[EUR][1000 genomes]
rs28736688	0.95[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3742992	1.00[EUR][1000 genomes]
rs3742995	1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs4334272	1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs56839966	0.87[EUR][1000 genomes]
rs58237318	1.00[EUR][1000 genomes]
rs58548142	1.00[EUR][1000 genomes]
rs60723187	1.00[EUR][1000 genomes]
rs6493056	0.81[JPT][hapmap];1.00[MEX][hapmap]
rs7162040	0.81[JPT][hapmap]
rs7163324	0.81[JPT][hapmap]
rs7165249	0.81[JPT][hapmap]
rs7169231	0.86[EUR][1000 genomes]
rs7174661	0.90[JPT][hapmap]
rs7177501	0.81[JPT][hapmap]
rs7178483	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73408611	0.87[EUR][1000 genomes]
rs73408619	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73410923	1.00[EUR][1000 genomes]
rs73410927	1.00[EUR][1000 genomes]
rs73410931	1.00[EUR][1000 genomes]
rs73410937	1.00[EUR][1000 genomes]
rs73410961	1.00[EUR][1000 genomes]
rs73410969	1.00[EUR][1000 genomes]
rs73410971	1.00[EUR][1000 genomes]
rs73410972	1.00[EUR][1000 genomes]
rs73410973	1.00[EUR][1000 genomes]
rs73410981	0.87[EUR][1000 genomes]
rs8023743	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8027319	0.81[JPT][hapmap]
rs8028365	1.00[EUR][1000 genomes]
rs8028699	1.00[EUR][1000 genomes]
rs8032994	0.81[JPT][hapmap]
rs8033336	1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs8036733	0.87[EUR][1000 genomes]
rs8039217	0.81[JPT][hapmap]
rs8039346	0.81[JPT][hapmap]
rs8039438	0.81[JPT][hapmap]
rs9944270	1.00[EUR][1000 genomes];0.96[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	nsv528725	chr15:42755555-43104406	Weak transcription Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv427959	chr15:42931181-43207353	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 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	chr15:42898000-42967800	Weak transcription	Fetal Intestine Small	intestine
2	chr15:42908800-43015000	Weak transcription	Fetal Kidney	kidney
3	chr15:42909600-42966400	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr15:42923000-42958200	Weak transcription	Hela-S3	cervix
5	chr15:42925200-42966000	Weak transcription	NH-A	brain
6	chr15:42925200-42966800	Weak transcription	NHLF	lung
7	chr15:42925600-42961000	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr15:42928200-42973600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr15:42928200-42974000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr15:42930600-42964000	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr15:42930800-42957400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr15:42931200-42949800	Weak transcription	Fetal Heart	heart
13	chr15:42931200-42954600	Weak transcription	Placenta	Placenta
14	chr15:42931200-42963400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr15:42931400-42955800	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr15:42931600-42948800	Weak transcription	Brain Anterior Caudate	brain
17	chr15:42931600-42953600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr15:42931600-42955400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr15:42931800-42955000	Weak transcription	Fetal Lung	lung
20	chr15:42931800-42955000	Weak transcription	Rectal Smooth Muscle	rectum
21	chr15:42931800-42955600	Weak transcription	Lung	lung
22	chr15:42931800-42957200	Weak transcription	Primary B cells from cord blood	blood
23	chr15:42931800-42958200	Weak transcription	Brain Angular Gyrus	brain
24	chr15:42931800-42968000	Weak transcription	HSMM	muscle
25	chr15:42932000-42958400	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr15:42932200-42966200	Weak transcription	Primary B cells from peripheral blood	blood
27	chr15:42932400-42960000	Weak transcription	Primary T cells from cord blood	blood
28	chr15:42932600-42953200	Weak transcription	Fetal Intestine Large	intestine
29	chr15:42932600-42955400	Weak transcription	Aorta	Aorta
30	chr15:42932800-42953000	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr15:42932800-42954000	Weak transcription	Brain Germinal Matrix	brain
32	chr15:42934800-42953000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr15:42939200-42961200	Weak transcription	Brain Cingulate Gyrus	brain
34	chr15:42940400-42967800	Weak transcription	HepG2	liver
35	chr15:42942600-42950000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr15:42942800-42955000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr15:42942800-42955400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr15:42942800-42955600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr15:42942800-42955800	Weak transcription	Brain Substantia Nigra	brain
40	chr15:42942800-42967200	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr15:42942800-42973600	Weak transcription	Psoas Muscle	Psoas
42	chr15:42943000-42957600	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr15:42943400-42950000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr15:42945000-42953200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr15:42945000-42955000	Weak transcription	Brain Hippocampus Middle	brain
46	chr15:42945000-42955400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr15:42945200-42950400	Weak transcription	Fetal Stomach	stomach
48	chr15:42945200-42951000	Weak transcription	Fetal Muscle Trunk	muscle
49	chr15:42945200-42955000	Weak transcription	Left Ventricle	heart
50	chr15:42945200-42955400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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