Variant report

Variant	rs16888625
Chromosome Location	chr8:117673915-117673916
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:117673316..117675815-chr8:117677435..117680158,2	K562	blood:
2	chr8:117673316..117675790-chr8:117678658..117680942,2	K562	blood:
3	chr8:117560486..117562469-chr8:117673036..117675814,2	MCF-7	breast:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10505285	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs12545964	0.95[AFR][1000 genomes]
rs1343663	0.84[AFR][1000 genomes]
rs1436767	0.83[LWK][hapmap];0.90[YRI][hapmap]
rs16888614	0.99[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs16888615	1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16888619	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16888629	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16888632	0.92[AFR][1000 genomes]
rs16888650	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs16888683	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs16888705	0.91[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.89[AMR][1000 genomes]
rs16888709	0.91[ASW][hapmap];1.00[LWK][hapmap];0.95[MKK][hapmap];0.89[AMR][1000 genomes]
rs16888721	0.89[AMR][1000 genomes]
rs2366	0.85[AFR][1000 genomes]
rs4130879	0.89[AMR][1000 genomes]
rs41339048	0.91[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.89[AMR][1000 genomes]
rs59843956	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs73322481	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73324025	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs7843792	0.83[LWK][hapmap];0.90[YRI][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	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:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:117647200-117677800	Weak transcription	Gastric	stomach
2	chr8:117651200-117675000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr8:117654600-117675200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr8:117654600-117715200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr8:117658800-117674800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr8:117659000-117677200	Weak transcription	Thymus	Thymus
7	chr8:117659000-117698000	Weak transcription	Hela-S3	cervix
8	chr8:117660000-117697400	Weak transcription	NHEK	skin
9	chr8:117660800-117675200	Weak transcription	Liver	Liver
10	chr8:117664600-117682000	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr8:117665200-117677600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr8:117665800-117674800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr8:117665800-117675000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr8:117665800-117677400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr8:117665800-117697400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr8:117666000-117699000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr8:117667000-117699200	Weak transcription	Primary B cells from peripheral blood	blood
18	chr8:117667800-117675200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr8:117668000-117675200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr8:117668200-117674800	Weak transcription	Primary T cells from cord blood	blood
21	chr8:117668200-117675000	Weak transcription	HMEC	breast
22	chr8:117668200-117688400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr8:117668200-117707000	Weak transcription	Primary hematopoietic stem cells	blood
24	chr8:117668400-117674000	Weak transcription	Primary T helper cells fromperipheralblood	blood
25	chr8:117668400-117677800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr8:117670200-117707000	Weak transcription	Primary T cells fromperipheralblood	blood
27	chr8:117670400-117689600	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr8:117670600-117674800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr8:117670600-117678000	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr8:117670600-117696800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr8:117670800-117682000	Weak transcription	K562	blood
32	chr8:117671000-117674000	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr8:117671000-117675000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr8:117671000-117675200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr8:117671000-117675200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr8:117671000-117677600	Weak transcription	Fetal Brain Female	brain
37	chr8:117671000-117678400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr8:117671000-117681600	Weak transcription	Left Ventricle	heart
39	chr8:117671000-117682400	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr8:117671000-117683800	Weak transcription	Ovary	ovary
41	chr8:117671000-117693200	Weak transcription	Dnd41	blood
42	chr8:117671000-117696800	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr8:117671000-117717600	Weak transcription	HepG2	liver
44	chr8:117671200-117674000	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr8:117671200-117674400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr8:117671200-117674600	Weak transcription	Aorta	Aorta
47	chr8:117671200-117674600	Weak transcription	Psoas Muscle	Psoas
48	chr8:117671200-117674800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr8:117671200-117674800	Weak transcription	Colon Smooth Muscle	Colon
50	chr8:117671200-117674800	Weak transcription	HSMMtube	muscle

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