Variant report

Variant	rs6469718
Chromosome Location	chr8:118930929-118930930
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	chr8:118929621..118931886-chr8:118940149..118942806,2	MCF-7	breast:
2	chr8:118930438..118932126-chr8:119123387..119125000,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000182197	Chromatin interaction

Extended variants
information (count: 103 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:94)

rs_ID	r²[population]
rs10087446	0.87[CEU][hapmap]
rs10097196	0.84[CEU][hapmap]
rs10098363	1.00[ASN][1000 genomes]
rs10106675	0.80[CEU][hapmap];0.87[EUR][1000 genomes]
rs10955841	0.81[EUR][1000 genomes]
rs10955846	0.84[CEU][hapmap]
rs1125103	1.00[CEU][hapmap];0.99[EUR][1000 genomes]
rs11774623	0.84[CEU][hapmap];0.86[EUR][1000 genomes]
rs11776458	0.86[EUR][1000 genomes]
rs11780699	1.00[CEU][hapmap];0.81[JPT][hapmap];0.99[EUR][1000 genomes]
rs11781153	0.96[CEU][hapmap];0.92[EUR][1000 genomes]
rs11781245	1.00[CEU][hapmap];0.99[EUR][1000 genomes]
rs11783359	0.83[EUR][1000 genomes]
rs11784409	0.84[CEU][hapmap];0.86[EUR][1000 genomes]
rs11784466	0.87[EUR][1000 genomes]
rs12682332	0.87[EUR][1000 genomes]
rs13251463	1.00[ASN][1000 genomes]
rs13252084	0.87[CHB][hapmap];0.89[ASN][1000 genomes]
rs13256042	0.80[CEU][hapmap]
rs13260665	0.84[CEU][hapmap]
rs1462985	0.98[EUR][1000 genomes]
rs1466429	0.87[CEU][hapmap]
rs1542519	0.96[CEU][hapmap];0.89[EUR][1000 genomes]
rs1564132	0.80[CEU][hapmap]
rs17430540	0.84[CEU][hapmap];0.85[EUR][1000 genomes]
rs17430610	0.80[CEU][hapmap];0.86[EUR][1000 genomes]
rs17450835	0.84[CEU][hapmap];0.84[EUR][1000 genomes]
rs17450856	0.86[EUR][1000 genomes]
rs17450863	0.83[CEU][hapmap];0.86[EUR][1000 genomes]
rs17450876	0.84[CEU][hapmap];0.86[EUR][1000 genomes]
rs17452966	0.84[CEU][hapmap];0.86[EUR][1000 genomes]
rs17453043	0.80[CEU][hapmap];0.86[EUR][1000 genomes]
rs17475190	0.80[CEU][hapmap];0.85[EUR][1000 genomes]
rs17479600	0.85[EUR][1000 genomes]
rs2008799	0.84[CEU][hapmap]
rs2199545	0.87[CEU][hapmap]
rs2219724	0.84[CEU][hapmap]
rs2447535	0.96[CEU][hapmap];0.97[EUR][1000 genomes]
rs2447536	1.00[CEU][hapmap];0.99[EUR][1000 genomes]
rs2447537	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs2447538	0.92[CEU][hapmap];0.89[EUR][1000 genomes]
rs2447539	0.92[CEU][hapmap];0.89[EUR][1000 genomes]
rs2447540	0.96[CEU][hapmap];0.99[EUR][1000 genomes]
rs2447541	0.96[CEU][hapmap];0.90[EUR][1000 genomes]
rs2514719	0.96[CEU][hapmap];0.99[EUR][1000 genomes]
rs2514720	0.92[CEU][hapmap];0.88[EUR][1000 genomes]
rs28357271	0.84[CEU][hapmap];0.85[EUR][1000 genomes]
rs28357275	0.80[CEU][hapmap];0.86[EUR][1000 genomes]
rs28357276	0.84[CEU][hapmap];0.86[EUR][1000 genomes]
rs28357277	0.80[CEU][hapmap];0.87[EUR][1000 genomes]
rs3101574	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs3860883	0.84[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.99[ASN][1000 genomes]
rs4298514	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4391466	0.80[CEU][hapmap];0.87[EUR][1000 genomes]
rs4467961	0.80[CEU][hapmap];0.81[ASN][1000 genomes]
rs4475517	0.89[ASN][1000 genomes]
rs4480148	0.86[CHB][hapmap];0.89[ASN][1000 genomes]
rs4541958	1.00[CEU][hapmap];0.99[EUR][1000 genomes]
rs4602926	0.84[CEU][hapmap];0.86[EUR][1000 genomes]
rs4621831	0.86[CHB][hapmap];0.89[ASN][1000 genomes]
rs4644291	1.00[CHB][hapmap];0.95[JPT][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4876771	0.85[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.99[ASN][1000 genomes]
rs4876774	0.88[CEU][hapmap];0.89[EUR][1000 genomes]
rs4876775	0.88[CEU][hapmap];0.87[CHB][hapmap];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4876777	0.92[CEU][hapmap];0.81[EUR][1000 genomes]
rs4876781	0.84[CEU][hapmap]
rs4876782	0.87[CEU][hapmap]
rs4876783	0.87[CEU][hapmap]
rs4876784	0.83[CEU][hapmap]
rs5005135	0.80[CEU][hapmap];0.87[EUR][1000 genomes]
rs56748438	0.85[EUR][1000 genomes]
rs62521139	0.86[EUR][1000 genomes]
rs62521140	0.86[EUR][1000 genomes]
rs62521141	0.86[EUR][1000 genomes]
rs6469716	0.84[CEU][hapmap];0.86[EUR][1000 genomes]
rs6982505	0.86[EUR][1000 genomes]
rs6985552	0.84[CEU][hapmap];0.86[EUR][1000 genomes]
rs6999044	0.80[CEU][hapmap];0.87[EUR][1000 genomes]
rs7007735	0.87[CEU][hapmap];0.84[EUR][1000 genomes]
rs7012890	0.84[CEU][hapmap];0.86[EUR][1000 genomes]
rs7812722	0.91[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7820452	0.84[CEU][hapmap];0.86[EUR][1000 genomes]
rs7822297	0.87[EUR][1000 genomes]
rs7824327	0.84[CEU][hapmap];0.88[EUR][1000 genomes]
rs7824391	0.88[EUR][1000 genomes]
rs7824395	0.84[CEU][hapmap];0.88[EUR][1000 genomes]
rs7824651	0.99[EUR][1000 genomes]
rs7836747	0.84[CEU][hapmap];0.86[EUR][1000 genomes]
rs7842917	0.84[CEU][hapmap];0.88[EUR][1000 genomes]
rs7843515	0.87[CEU][hapmap];0.88[EUR][1000 genomes]
rs958381	1.00[CEU][hapmap];0.99[EUR][1000 genomes]
rs9643120	0.84[CEU][hapmap]
rs9656923	0.80[CEU][hapmap];0.87[EUR][1000 genomes]
rs9656925	0.80[CEU][hapmap];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:118919200-118933200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr8:118922800-118932800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr8:118922800-118934800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr8:118923200-118933000	Weak transcription	Stomach Smooth Muscle	stomach
5	chr8:118923800-118933800	Weak transcription	Fetal Stomach	stomach
6	chr8:118924000-118932800	Weak transcription	Ovary	ovary
7	chr8:118924000-118933000	Weak transcription	Lung	lung
8	chr8:118926000-118931600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr8:118926000-118932800	Weak transcription	HSMMtube	muscle
10	chr8:118926400-118932200	Weak transcription	NHEK	skin
11	chr8:118926400-118932600	Weak transcription	HSMM	muscle
12	chr8:118926400-118932600	Weak transcription	NH-A	brain
13	chr8:118927000-118935000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr8:118927200-118932600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr8:118927400-118932800	Weak transcription	Liver	Liver
16	chr8:118928200-118932600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr8:118928600-118932800	Weak transcription	Duodenum Mucosa	Duodenum
18	chr8:118928800-118931800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr8:118928800-118932800	Weak transcription	A549	lung
20	chr8:118929000-118932800	Weak transcription	GM12878-XiMat	blood
21	chr8:118929000-118933000	Weak transcription	Fetal Intestine Large	intestine
22	chr8:118929800-118931000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr8:118929800-118931000	Genic enhancers	Aorta	Aorta
24	chr8:118929800-118932000	Enhancers	NHDF-Ad	bronchial
25	chr8:118930000-118931000	Enhancers	H1 Cell Line	embryonic stem cell
26	chr8:118930000-118931200	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr8:118930000-118932000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr8:118930200-118931000	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr8:118930200-118931400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr8:118930200-118932600	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr8:118930400-118931000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr8:118930400-118931200	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr8:118930400-118932000	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr8:118930600-118931000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
35	chr8:118930600-118931000	Enhancers	Primary B cells from peripheral blood	blood
36	chr8:118930600-118931000	Enhancers	Muscle Satellite Cultured Cells	--
37	chr8:118930600-118931800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr8:118930600-118932000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr8:118930600-118932800	Enhancers	Osteobl	bone
40	chr8:118930800-118931000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr8:118930800-118931000	Enhancers	iPS-18 Cell Line	embryonic stem cell
42	chr8:118930800-118931000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr8:118930800-118931000	Genic enhancers	Pancreas	Pancrea
44	chr8:118930800-118931000	Enhancers	Psoas Muscle	Psoas
45	chr8:118930800-118931000	Genic enhancers	NHLF	lung
46	chr8:118930800-118932600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr8:118930800-118932600	Weak transcription	Fetal Heart	heart
48	chr8:118930800-118932800	Weak transcription	Adipose Nuclei	Adipose
49	chr8:118930800-118933000	Weak transcription	Right Atrium	heart

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