Variant report

Variant	rs2447541
Chromosome Location	chr8:118940928-118940929
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:118929621..118931886-chr8:118940149..118942806,2	MCF-7	breast:

Extended variants
information (count: 110 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:100)

rs_ID	r²[population]
rs10087446	0.83[CEU][hapmap];0.90[CHD][hapmap];0.81[GIH][hapmap];0.84[JPT][hapmap]
rs10097196	0.83[CEU][hapmap];0.82[CHB][hapmap];0.89[JPT][hapmap];0.87[ASN][1000 genomes]
rs10098363	0.82[EUR][1000 genomes]
rs10105797	0.89[ASN][1000 genomes]
rs10106675	0.87[CEU][hapmap];0.86[CHB][hapmap];0.86[ASN][1000 genomes]
rs10955846	0.83[CEU][hapmap]
rs1125103	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11774623	0.83[CEU][hapmap];0.86[CHB][hapmap];0.86[ASN][1000 genomes]
rs11776458	0.83[ASN][1000 genomes]
rs11777220	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11777874	0.86[CHB][hapmap];0.85[ASN][1000 genomes]
rs11780699	0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11781153	0.91[CEU][hapmap];0.91[CHB][hapmap];0.88[CHD][hapmap];0.89[JPT][hapmap];0.83[MEX][hapmap];0.82[TSI][hapmap];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11781245	0.96[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11783359	0.83[ASN][1000 genomes]
rs11784409	0.83[CEU][hapmap];0.86[CHB][hapmap];0.84[ASN][1000 genomes]
rs11784466	0.87[CEU][hapmap];0.86[CHB][hapmap];0.84[ASN][1000 genomes]
rs12682332	0.86[CEU][hapmap];0.86[CHB][hapmap];0.84[ASN][1000 genomes]
rs13251463	0.82[EUR][1000 genomes]
rs13252084	0.82[EUR][1000 genomes]
rs13256042	0.87[CEU][hapmap]
rs13260665	0.83[CEU][hapmap]
rs1462985	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1466429	0.83[CEU][hapmap];0.90[CHD][hapmap];0.81[GIH][hapmap];0.84[JPT][hapmap]
rs1542519	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1564132	0.87[CEU][hapmap]
rs17430540	0.83[CEU][hapmap];0.86[CHB][hapmap];0.89[JPT][hapmap];0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs17430610	0.87[CEU][hapmap];0.91[CHB][hapmap];0.87[ASN][1000 genomes]
rs17450835	0.83[CEU][hapmap];0.81[CHB][hapmap];0.89[JPT][hapmap];0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs17450856	0.86[ASN][1000 genomes]
rs17450863	0.86[CEU][hapmap];0.86[CHB][hapmap];0.86[ASN][1000 genomes]
rs17450876	0.83[CEU][hapmap];0.86[CHB][hapmap];0.86[ASN][1000 genomes]
rs17452966	0.83[CEU][hapmap];0.86[CHB][hapmap];0.86[ASN][1000 genomes]
rs17453043	0.87[CEU][hapmap];0.91[CHB][hapmap];0.84[ASN][1000 genomes]
rs17475190	0.87[CEU][hapmap];0.81[CHB][hapmap];0.85[ASN][1000 genomes]
rs17479600	0.85[ASN][1000 genomes]
rs2008799	0.83[CEU][hapmap];0.84[JPT][hapmap]
rs2199545	0.83[CEU][hapmap];0.90[CHD][hapmap];0.81[GIH][hapmap];0.84[JPT][hapmap]
rs2219724	0.83[CEU][hapmap];0.84[JPT][hapmap]
rs2325821	0.83[ASN][1000 genomes]
rs2447535	0.91[CEU][hapmap];0.95[CHB][hapmap];0.85[JPT][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2447536	0.95[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2447537	0.96[CEU][hapmap];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2447538	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2447539	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2447540	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];0.95[JPT][hapmap];0.94[MEX][hapmap];0.90[TSI][hapmap];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2514719	0.91[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2514720	0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28357271	0.83[CEU][hapmap];0.86[CHB][hapmap];0.86[ASN][1000 genomes]
rs28357275	0.87[CEU][hapmap];0.86[CHB][hapmap];0.84[ASN][1000 genomes]
rs28357276	0.83[CEU][hapmap];0.91[CHB][hapmap];0.85[ASN][1000 genomes]
rs28357277	0.87[CEU][hapmap];0.91[CHB][hapmap];0.85[ASN][1000 genomes]
rs3101574	0.96[CEU][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3860883	0.88[CEU][hapmap];0.92[GIH][hapmap];0.80[EUR][1000 genomes]
rs4298514	0.96[CEU][hapmap];0.87[GIH][hapmap];0.87[TSI][hapmap];0.90[EUR][1000 genomes]
rs4391466	0.87[CEU][hapmap];0.91[CHB][hapmap];0.84[ASN][1000 genomes]
rs4467961	0.84[CEU][hapmap];0.92[GIH][hapmap];0.81[EUR][1000 genomes]
rs4475517	0.82[EUR][1000 genomes]
rs4480148	0.82[EUR][1000 genomes]
rs4541958	0.96[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.92[GIH][hapmap];0.89[JPT][hapmap];0.94[MEX][hapmap];0.87[TSI][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4602926	0.83[CEU][hapmap];0.86[CHB][hapmap];0.89[JPT][hapmap];0.85[ASN][1000 genomes]
rs4621831	0.82[EUR][1000 genomes]
rs4644291	0.90[EUR][1000 genomes]
rs4876771	0.88[CEU][hapmap];0.82[EUR][1000 genomes]
rs4876774	0.91[CEU][hapmap];0.98[EUR][1000 genomes]
rs4876775	0.91[CEU][hapmap];0.97[EUR][1000 genomes]
rs4876777	0.91[CEU][hapmap];0.91[CHB][hapmap];0.90[JPT][hapmap];0.92[ASN][1000 genomes]
rs4876781	0.83[CEU][hapmap];0.84[JPT][hapmap]
rs4876782	0.83[CEU][hapmap];0.90[CHD][hapmap];0.84[JPT][hapmap]
rs4876783	0.83[CEU][hapmap];0.90[CHD][hapmap];0.84[JPT][hapmap]
rs4876784	0.87[CEU][hapmap];0.90[CHD][hapmap];0.84[JPT][hapmap]
rs5005135	0.87[CEU][hapmap];0.91[CHB][hapmap];0.85[ASN][1000 genomes]
rs56748438	0.87[ASN][1000 genomes]
rs62521139	0.84[ASN][1000 genomes]
rs62521140	0.84[ASN][1000 genomes]
rs62521141	0.86[ASN][1000 genomes]
rs6469716	0.83[CEU][hapmap];0.91[CHB][hapmap];0.85[ASN][1000 genomes]
rs6469718	0.96[CEU][hapmap];0.90[EUR][1000 genomes]
rs6982505	0.85[ASN][1000 genomes]
rs6985552	0.83[CEU][hapmap];0.86[CHB][hapmap];0.84[ASN][1000 genomes]
rs6999044	0.87[CEU][hapmap];0.86[CHB][hapmap];0.84[ASN][1000 genomes]
rs7007735	0.83[CEU][hapmap];0.81[CHB][hapmap];0.84[CHD][hapmap];0.83[MEX][hapmap];0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs7012890	0.83[CEU][hapmap];0.86[CHB][hapmap];0.85[ASN][1000 genomes]
rs7812722	0.95[CEU][hapmap];0.95[GIH][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes]
rs7815972	0.81[ASN][1000 genomes]
rs7818831	0.83[CEU][hapmap]
rs7820452	0.83[CEU][hapmap];0.86[CHB][hapmap];0.86[ASN][1000 genomes]
rs7822297	0.87[CEU][hapmap];0.86[CHB][hapmap];0.86[ASN][1000 genomes]
rs7824327	0.83[CEU][hapmap];0.91[CHB][hapmap];0.86[ASN][1000 genomes]
rs7824391	0.86[ASN][1000 genomes]
rs7824395	0.83[CEU][hapmap];0.91[CHB][hapmap];0.86[ASN][1000 genomes]
rs7824651	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7836747	0.83[CEU][hapmap];0.85[ASN][1000 genomes]
rs7840309	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs7842917	0.82[CEU][hapmap];0.91[CHB][hapmap];0.86[ASN][1000 genomes]
rs7843515	0.83[CEU][hapmap];0.91[CHB][hapmap];0.86[CHD][hapmap];0.82[MEX][hapmap];0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs958381	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];0.95[JPT][hapmap];0.87[TSI][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9643120	0.83[CEU][hapmap];0.84[JPT][hapmap]
rs9656923	0.87[CEU][hapmap];0.86[CHB][hapmap];0.84[ASN][1000 genomes]
rs9656925	0.87[CEU][hapmap];0.86[CHB][hapmap];0.84[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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2447541	NOBOX	trans	multi-tissue	Pritchard

Chromatin state (count:59 , 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	chr8:118933600-118941400	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr8:118933600-118945600	Weak transcription	Stomach Smooth Muscle	stomach
5	chr8:118933600-118945800	Weak transcription	Right Atrium	heart
6	chr8:118933600-118946200	Weak transcription	Ovary	ovary
7	chr8:118933600-118946600	Weak transcription	Brain Germinal Matrix	brain
8	chr8:118933800-118946000	Weak transcription	Fetal Intestine Large	intestine
9	chr8:118935200-118942400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr8:118935200-118946200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr8:118935200-118949800	Weak transcription	Psoas Muscle	Psoas
12	chr8:118935200-118958600	Weak transcription	Esophagus	oesophagus
13	chr8:118936600-118942400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr8:118937800-118942200	Enhancers	Liver	Liver
15	chr8:118938000-118949800	Weak transcription	Primary hematopoietic stem cells	blood
16	chr8:118938400-118942400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr8:118938800-118941200	Enhancers	Muscle Satellite Cultured Cells	--
18	chr8:118938800-118941600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr8:118938800-118942200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr8:118938800-118942400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr8:118938800-118947600	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr8:118939200-118941800	Enhancers	HMEC	breast
23	chr8:118939400-118941200	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr8:118939400-118941600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr8:118939400-118941800	Enhancers	NHLF	lung
26	chr8:118939400-118946600	Weak transcription	Fetal Muscle Leg	muscle
27	chr8:118939600-118942000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr8:118939600-118946200	Weak transcription	Fetal Heart	heart
29	chr8:118939800-118941200	Weak transcription	Adipose Nuclei	Adipose
30	chr8:118939800-118941200	Enhancers	NH-A	brain
31	chr8:118939800-118941600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr8:118939800-118941800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr8:118939800-118941800	Enhancers	NHEK	skin
34	chr8:118940000-118941800	Enhancers	Sigmoid Colon	Sigmoid Colon
35	chr8:118940000-118941800	Genic enhancers	NHDF-Ad	bronchial
36	chr8:118940000-118945800	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr8:118940200-118941200	Enhancers	Primary T cells from cord blood	blood
38	chr8:118940200-118941400	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr8:118940200-118941600	Weak transcription	Pancreas	Pancrea
40	chr8:118940200-118942000	Enhancers	A549	lung
41	chr8:118940200-118943600	Weak transcription	Small Intestine	intestine
42	chr8:118940200-118946400	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr8:118940400-118941200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr8:118940400-118942200	Enhancers	HUVEC	blood vessel
45	chr8:118940400-118946000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr8:118940400-118946000	Weak transcription	Fetal Lung	lung
47	chr8:118940600-118941000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr8:118940600-118941000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr8:118940600-118943000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr8:118940600-118943400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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