Variant report

Variant	rs17006441
Chromosome Location	chr3:69841880-69841881
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:69840174..69842626-chr3:70047188..70049024,2	K562	blood:
2	chr3:69739945..69740812-chr3:69840988..69842008,3	K562	blood:
3	chr3:69839973..69842535-chr3:69844514..69847485,2	K562	blood:
4	chr3:69839973..69842535-chr3:69843772..69847485,3	K562	blood:
5	chr3:69740116..69741498-chr3:69840841..69842066,6	MCF-7	breast:
6	chr3:69732676..69733657-chr3:69841036..69841931,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000240405	Chromatin interaction

Extended variants
information (count: 113 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:110)

rs_ID	r²[population]
rs10510991	1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11128151	1.00[CHB][hapmap]
rs11716109	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11717837	0.81[YRI][hapmap]
rs11916348	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11919798	0.92[EUR][1000 genomes]
rs11921388	0.92[EUR][1000 genomes]
rs11921548	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11923382	0.92[EUR][1000 genomes]
rs12106831	1.00[CHB][hapmap]
rs12106842	1.00[CHB][hapmap]
rs12106907	1.00[CHB][hapmap]
rs12106913	1.00[CHB][hapmap]
rs12107208	1.00[CHB][hapmap]
rs12107267	1.00[CHB][hapmap]
rs12107405	1.00[CHB][hapmap]
rs12107744	1.00[CHB][hapmap]
rs12108172	1.00[CHB][hapmap]
rs12330279	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13071701	0.92[EUR][1000 genomes]
rs13073599	0.85[EUR][1000 genomes]
rs13078066	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13080248	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13093918	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13097379	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13097431	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1430608	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1430611	0.87[EUR][1000 genomes]
rs1529583	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1529584	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1529585	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1529586	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1544978	0.92[EUR][1000 genomes]
rs17006565	1.00[CHB][hapmap]
rs17006578	1.00[CHB][hapmap]
rs17638562	0.85[YRI][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs34165775	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs34255600	0.92[EUR][1000 genomes]
rs34610895	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs34818992	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35017084	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35022873	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35183823	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35408095	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35759074	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35879809	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35896616	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs56056340	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs56199973	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs59913237	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62250968	0.91[EUR][1000 genomes]
rs62251034	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62251035	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62251038	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62252216	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62252223	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62252236	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62253059	0.89[EUR][1000 genomes]
rs62253173	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6549251	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6549252	1.00[CHB][hapmap];0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs66849717	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6768731	0.92[YRI][hapmap];0.94[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6777363	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6778747	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6781171	0.92[YRI][hapmap];0.94[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6782552	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6793179	0.92[EUR][1000 genomes]
rs6794889	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6795249	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6795463	0.85[YRI][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6804686	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6805563	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6805924	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6805945	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs724794	1.00[CHB][hapmap]
rs7613400	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7624235	0.83[YRI][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7626629	0.92[YRI][hapmap];0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7626717	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7634376	0.83[YRI][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7634543	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7634549	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7636802	0.94[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9310177	1.00[CHB][hapmap]
rs9819188	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9819504	0.92[YRI][hapmap];0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9820221	1.00[CHB][hapmap]
rs9823839	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9825822	0.92[YRI][hapmap];0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9825958	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9826548	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9827888	1.00[CHB][hapmap]
rs9828924	0.80[YRI][hapmap]
rs9840417	1.00[CHB][hapmap]
rs9843596	1.00[CHB][hapmap]
rs9843611	1.00[CHB][hapmap]
rs9847658	1.00[CHB][hapmap]
rs9854710	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9858495	0.83[YRI][hapmap];0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9864805	0.92[YRI][hapmap];0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9864949	0.92[YRI][hapmap];0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9866423	1.00[CHB][hapmap]
rs9872200	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9876482	0.88[YRI][hapmap]
rs9882576	1.00[CHB][hapmap]
rs9917631	1.00[CHB][hapmap]
rs9917633	1.00[CHB][hapmap]
rs9917634	1.00[CHB][hapmap]
rs9917686	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3507784	chr3:69802539-69959607	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	esv3507785	chr3:69802539-69959607	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1009045	chr3:69821621-69875782	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:69836400-69844800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr3:69837200-69842600	Weak transcription	Lung	lung
3	chr3:69839200-69842000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr3:69839600-69842400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr3:69839800-69842000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr3:69840000-69843000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr3:69840800-69842000	Enhancers	HUVEC	blood vessel
8	chr3:69841000-69842000	Flanking Active TSS	K562	blood
9	chr3:69841000-69845200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr3:69841200-69842600	Weak transcription	Stomach Smooth Muscle	stomach
11	chr3:69841200-69843000	Weak transcription	Brain Angular Gyrus	brain
12	chr3:69841200-69847200	Weak transcription	Right Ventricle	heart
13	chr3:69841200-69856200	Weak transcription	Ovary	ovary
14	chr3:69841200-69857600	Weak transcription	Right Atrium	heart
15	chr3:69841400-69842000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr3:69841400-69842200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr3:69841400-69843000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr3:69841400-69843600	Enhancers	Fetal Heart	heart
19	chr3:69841400-69846000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr3:69841400-69846800	Weak transcription	Aorta	Aorta
21	chr3:69841400-69847200	Weak transcription	Psoas Muscle	Psoas
22	chr3:69841400-69848600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr3:69841400-69853200	Weak transcription	Colon Smooth Muscle	Colon
24	chr3:69841400-69855800	Weak transcription	HSMM	muscle
25	chr3:69841600-69842000	Weak transcription	Left Ventricle	heart
26	chr3:69841600-69842600	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr3:69841600-69853400	Weak transcription	Rectal Smooth Muscle	rectum
28	chr3:69841800-69855400	Weak transcription	NHLF	lung

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