Variant report

Variant	rs1462985
Chromosome Location	chr8:118940537-118940538
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:118931174..118933770-chr8:118938914..118940644,2	K562	blood:
2	chr8:118929621..118931886-chr8:118940149..118942806,2	MCF-7	breast:

Extended variants
information (count: 102 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:92)

rs_ID	r²[population]
rs10087446	0.84[JPT][hapmap]
rs10097196	0.82[CHB][hapmap];0.90[JPT][hapmap];0.87[ASN][1000 genomes]
rs10105797	0.89[ASN][1000 genomes]
rs10106675	0.87[CHB][hapmap];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10955846	0.81[JPT][hapmap]
rs1125103	1.00[CHB][hapmap];0.95[JPT][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11774623	0.87[CHB][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11776458	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11777220	0.91[ASN][1000 genomes]
rs11777874	0.87[CHB][hapmap];0.84[ASN][1000 genomes]
rs11780699	1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11781153	0.91[CHB][hapmap];0.89[JPT][hapmap];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11781245	0.91[CHB][hapmap];0.95[JPT][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11783359	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11784409	0.87[CHB][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11784466	0.87[CHB][hapmap];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12682332	0.87[CHB][hapmap];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13256042	0.81[JPT][hapmap]
rs13260665	0.81[JPT][hapmap]
rs1466429	0.84[JPT][hapmap]
rs1542519	1.00[CHB][hapmap];0.95[JPT][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1564132	0.81[JPT][hapmap]
rs17430540	0.87[CHB][hapmap];0.90[JPT][hapmap];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17430610	0.91[CHB][hapmap];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17450835	0.82[CHB][hapmap];0.90[JPT][hapmap];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17450856	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17450863	0.87[CHB][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17450876	0.87[CHB][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17452966	0.87[CHB][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17453043	0.91[CHB][hapmap];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17475190	0.82[CHB][hapmap];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17479600	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2008799	0.85[JPT][hapmap]
rs2199545	0.84[JPT][hapmap]
rs2219724	0.85[JPT][hapmap]
rs2325820	0.80[JPT][hapmap]
rs2325821	0.83[ASN][1000 genomes]
rs2447535	0.96[CHB][hapmap];0.82[JPT][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2447536	0.95[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2447537	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2447538	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2447539	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2447540	1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2447541	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2514719	1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2514720	0.96[CHB][hapmap];0.95[JPT][hapmap];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28357271	0.87[CHB][hapmap];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28357275	0.87[CHB][hapmap];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28357276	0.91[CHB][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28357277	0.91[CHB][hapmap];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3101574	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4298514	0.98[EUR][1000 genomes]
rs4391466	0.91[CHB][hapmap];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4541958	1.00[CHB][hapmap];0.89[JPT][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4602926	0.87[CHB][hapmap];0.90[JPT][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4644291	0.98[EUR][1000 genomes]
rs4876774	0.88[EUR][1000 genomes]
rs4876775	0.87[EUR][1000 genomes]
rs4876777	0.91[CHB][hapmap];0.90[JPT][hapmap];0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4876781	0.85[JPT][hapmap]
rs4876782	0.84[JPT][hapmap]
rs4876783	0.84[JPT][hapmap]
rs4876784	0.84[JPT][hapmap]
rs5005135	0.91[CHB][hapmap];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs56748438	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62521139	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62521140	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62521141	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6469716	0.91[CHB][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6469718	0.98[EUR][1000 genomes]
rs6982505	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6985552	0.87[CHB][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6999044	0.87[CHB][hapmap];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7007735	0.81[CHB][hapmap];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7012890	0.87[CHB][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7812722	0.88[EUR][1000 genomes]
rs7815972	0.82[ASN][1000 genomes]
rs7818831	0.81[JPT][hapmap]
rs7820452	0.87[CHB][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7822297	0.87[CHB][hapmap];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7824327	0.91[CHB][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7824391	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7824395	0.91[CHB][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7824651	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7836747	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7840309	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs7842917	0.91[CHB][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7843515	0.91[CHB][hapmap];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs958381	1.00[CHB][hapmap];0.95[JPT][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9643120	0.85[JPT][hapmap]
rs9656923	0.87[CHB][hapmap];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9656925	0.87[CHB][hapmap];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1019636	chr8:118598433-118946091	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv539734	chr8:118598433-118946091	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv933516	chr8:118764605-119009093	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv1030459	chr8:118840179-119155835	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv831440	chr8:118871930-119052269	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv891411	chr8:118891896-118942698	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv1032355	chr8:118896733-119003223	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv465785	chr8:118901928-118970300	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv612046	chr8:118901928-118970300	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	nsv612047	chr8:118939094-119468609	Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:118933200-118943800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr8:118933200-118946600	Weak transcription	Gastric	stomach
3	chr8:118933400-118940800	Enhancers	Osteobl	bone
4	chr8:118933600-118941400	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr8:118933600-118945600	Weak transcription	Stomach Smooth Muscle	stomach
6	chr8:118933600-118945800	Weak transcription	Right Atrium	heart
7	chr8:118933600-118946200	Weak transcription	Ovary	ovary
8	chr8:118933600-118946600	Weak transcription	Brain Germinal Matrix	brain
9	chr8:118933800-118946000	Weak transcription	Fetal Intestine Large	intestine
10	chr8:118934000-118940600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr8:118935200-118942400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr8:118935200-118946200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr8:118935200-118949800	Weak transcription	Psoas Muscle	Psoas
14	chr8:118935200-118958600	Weak transcription	Esophagus	oesophagus
15	chr8:118936600-118942400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr8:118937800-118942200	Enhancers	Liver	Liver
17	chr8:118938000-118949800	Weak transcription	Primary hematopoietic stem cells	blood
18	chr8:118938200-118940600	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr8:118938400-118940600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr8:118938400-118942400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr8:118938600-118940600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr8:118938600-118940600	Enhancers	HSMM	muscle
23	chr8:118938800-118940600	Enhancers	Aorta	Aorta
24	chr8:118938800-118941200	Enhancers	Muscle Satellite Cultured Cells	--
25	chr8:118938800-118941600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr8:118938800-118942200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr8:118938800-118942400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr8:118938800-118947600	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr8:118939200-118941800	Enhancers	HMEC	breast
30	chr8:118939400-118941200	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr8:118939400-118941600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr8:118939400-118941800	Enhancers	NHLF	lung
33	chr8:118939400-118946600	Weak transcription	Fetal Muscle Leg	muscle
34	chr8:118939600-118942000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr8:118939600-118946200	Weak transcription	Fetal Heart	heart
36	chr8:118939800-118940600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr8:118939800-118941200	Weak transcription	Adipose Nuclei	Adipose
38	chr8:118939800-118941200	Enhancers	NH-A	brain
39	chr8:118939800-118941600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr8:118939800-118941800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr8:118939800-118941800	Enhancers	NHEK	skin
42	chr8:118940000-118940600	Enhancers	Duodenum Mucosa	Duodenum
43	chr8:118940000-118940600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
44	chr8:118940000-118941800	Enhancers	Sigmoid Colon	Sigmoid Colon
45	chr8:118940000-118941800	Genic enhancers	NHDF-Ad	bronchial
46	chr8:118940000-118945800	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr8:118940200-118940600	Enhancers	H1 Cell Line	embryonic stem cell
48	chr8:118940200-118940600	Enhancers	Right Ventricle	heart
49	chr8:118940200-118940800	Enhancers	HepG2	liver
50	chr8:118940200-118941200	Enhancers	Primary T cells from cord blood	blood

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