Variant report

Variant	rs4472547
Chromosome Location	chr8:117683846-117683847
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:117676254..117678183-chr8:117682337..117686506,3	K562	blood:
2	chr8:117682303..117684886-chr8:117687768..117689816,2	K562	blood:
3	chr8:117679849..117681801-chr8:117682865..117686528,3	K562	blood:
4	chr8:117679849..117681610-chr8:117682865..117685301,2	K562	blood:
5	chr8:117683510..117685939-chr8:117686227..117688955,2	MCF-7	breast:

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10085939	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10086419	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10088177	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10093551	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10096134	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10105610	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10112279	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10112604	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10505282	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10505286	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs10505287	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10808484	0.94[ASN][1000 genomes]
rs11781970	0.87[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12547058	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1317271	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13258529	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13262725	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13277714	0.82[EUR][1000 genomes]
rs13277958	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1347626	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1436765	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1436766	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1529945	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2118108	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3088140	0.84[EUR][1000 genomes]
rs34519652	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs35338453	0.82[EUR][1000 genomes]
rs35905748	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4256624	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4278180	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4289846	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4289847	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4335152	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4335153	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4422805	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4601347	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4623456	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4629900	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4645587	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs55951040	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6469656	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6469657	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6980504	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6983032	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6988841	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7007250	0.82[EUR][1000 genomes]
rs7013617	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7464414	0.82[EUR][1000 genomes]
rs7820778	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7821132	0.90[AFR][1000 genomes]
rs7830860	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7833054	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7836549	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7843852	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[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	nsv530386	chr8:117509968-118391406	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:117654600-117715200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr8:117659000-117698000	Weak transcription	Hela-S3	cervix
3	chr8:117660000-117697400	Weak transcription	NHEK	skin
4	chr8:117665800-117697400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr8:117666000-117699000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr8:117667000-117699200	Weak transcription	Primary B cells from peripheral blood	blood
7	chr8:117668200-117688400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr8:117668200-117707000	Weak transcription	Primary hematopoietic stem cells	blood
9	chr8:117670200-117707000	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr8:117670400-117689600	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr8:117670600-117696800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr8:117671000-117693200	Weak transcription	Dnd41	blood
13	chr8:117671000-117696800	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr8:117671000-117717600	Weak transcription	HepG2	liver
15	chr8:117671200-117687000	Weak transcription	Fetal Muscle Leg	muscle
16	chr8:117671200-117687400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr8:117671200-117688600	Weak transcription	Placenta	Placenta
18	chr8:117671200-117690000	Weak transcription	Fetal Intestine Large	intestine
19	chr8:117671400-117685800	Weak transcription	HSMM	muscle
20	chr8:117673000-117697400	Weak transcription	NH-A	brain
21	chr8:117673600-117688800	Weak transcription	Primary B cells from cord blood	blood
22	chr8:117674800-117706800	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr8:117675400-117687600	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr8:117675600-117689600	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr8:117675600-117697400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr8:117675800-117697600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr8:117677400-117699200	Weak transcription	Primary monocytes fromperipheralblood	blood
28	chr8:117678200-117697600	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr8:117678200-117700600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr8:117678200-117705600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr8:117679000-117687200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr8:117679000-117703200	Weak transcription	Brain Hippocampus Middle	brain
33	chr8:117679400-117688200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr8:117679800-117684200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr8:117680400-117685000	Enhancers	Primary T helper cells PMA-I stimulated	--
36	chr8:117680800-117686800	Weak transcription	Colon Smooth Muscle	Colon
37	chr8:117681200-117698000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr8:117682000-117684200	Enhancers	K562	blood
39	chr8:117682200-117684200	Enhancers	Fetal Heart	heart
40	chr8:117682400-117684000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
41	chr8:117682400-117684000	Enhancers	Left Ventricle	heart
42	chr8:117682600-117684000	Enhancers	Primary T helper cells fromperipheralblood	blood
43	chr8:117682800-117685600	Weak transcription	GM12878-XiMat	blood
44	chr8:117682800-117687600	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr8:117682800-117688600	Weak transcription	Psoas Muscle	Psoas
46	chr8:117682800-117688600	Weak transcription	Right Ventricle	heart
47	chr8:117682800-117693400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr8:117682800-117696800	Weak transcription	HUVEC	blood vessel
49	chr8:117682800-117697400	Weak transcription	Gastric	stomach
50	chr8:117682800-117698600	Weak transcription	Sigmoid Colon	Sigmoid Colon

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