Variant report

Variant	rs7300928
Chromosome Location	chr12:62685401-62685402
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:62684895..62687117-chr12:62701993..62704018,2	MCF-7	breast:
2	chr12:62652793..62655743-chr12:62684104..62685814,2	MCF-7	breast:
3	chr12:62683752..62687309-chr12:62693284..62697639,4	K562	blood:
4	chr12:62654095..62655917-chr12:62684631..62686399,2	MCF-7	breast:
5	chr12:62685329..62689047-chr12:62691891..62696883,6	K562	blood:

Variant related genes	Relation type
ENSG00000135655	Chromatin interaction
ENSG00000198673	Chromatin interaction

Extended variants
information (count: 98 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10160868	0.95[YRI][hapmap];0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10160955	0.81[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10431509	0.89[JPT][hapmap];0.93[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs10431510	0.92[YRI][hapmap];0.81[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs10459253	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10506440	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10747958	0.82[CHD][hapmap]
rs10784292	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10877819	0.87[ASN][1000 genomes]
rs10877820	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10877824	0.87[ASW][hapmap];0.82[CHD][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs10877826	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10877829	0.83[JPT][hapmap]
rs10877834	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11174397	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11174398	0.95[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11174399	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11174401	0.87[ASN][1000 genomes]
rs11174404	0.87[ASN][1000 genomes]
rs11174408	0.91[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs11174409	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11174410	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11174411	0.92[YRI][hapmap];0.84[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs11174412	0.82[CHD][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs11174416	0.87[ASN][1000 genomes]
rs11174417	0.82[CHD][hapmap];0.95[LWK][hapmap];0.92[YRI][hapmap];0.88[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs11174418	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11174420	0.82[CHD][hapmap];0.87[ASN][1000 genomes]
rs11174423	0.83[ASN][1000 genomes]
rs11174424	0.91[YRI][hapmap];0.89[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs11174428	0.84[ASN][1000 genomes]
rs11174431	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11174433	0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs11174435	0.80[ASN][1000 genomes]
rs11174436	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11174437	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11174446	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap]
rs11174449	0.89[CHB][hapmap]
rs11174458	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11174464	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11504121	0.84[ASN][1000 genomes]
rs11504122	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11561463	0.84[ASN][1000 genomes]
rs11830242	0.92[YRI][hapmap];0.81[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs11836268	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12228015	0.87[ASW][hapmap];0.82[CHD][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs12229271	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12231778	0.82[ASN][1000 genomes]
rs12297474	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12297480	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12299072	0.84[ASN][1000 genomes]
rs12302239	0.89[CHB][hapmap]
rs12307900	0.84[ASN][1000 genomes]
rs12308455	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12310318	0.82[ASW][hapmap];0.82[CHD][hapmap];0.84[ASN][1000 genomes]
rs12310616	0.82[ASW][hapmap];0.82[CHD][hapmap]
rs12310651	0.81[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12311259	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12311279	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12314644	0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12315645	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12317437	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12318287	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1901239	0.92[YRI][hapmap];0.88[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs2122660	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2131434	1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs2131435	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2167287	0.81[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2242032	0.83[ASN][1000 genomes]
rs28526400	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3213984	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3803106	0.81[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66507062	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs67044039	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67853252	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7132814	0.80[ASN][1000 genomes]
rs7137068	0.84[ASN][1000 genomes]
rs7295013	0.82[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7298827	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7302033	0.96[YRI][hapmap];0.86[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs7302617	0.84[ASN][1000 genomes]
rs7309209	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73136889	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73321563	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs767391	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7953967	0.86[ASW][hapmap];0.82[CHD][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs7956332	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7963950	0.81[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7965326	0.82[ASN][1000 genomes]
rs7971588	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7974973	0.91[AFR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7976058	0.87[ASW][hapmap];0.82[CHD][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs7976608	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9634284	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035150	chr12:62615347-62785005	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv1049465	chr12:62657011-62785005	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
3	nsv1053403	chr12:62657011-62809413	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv530690	chr12:62678463-62999462	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:62655400-62685600	Weak transcription	HSMM	muscle
2	chr12:62656600-62685600	Weak transcription	Aorta	Aorta
3	chr12:62656600-62685600	Weak transcription	Pancreas	Pancrea
4	chr12:62663000-62685600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr12:62663400-62685600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr12:62665000-62688000	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr12:62667800-62689000	Weak transcription	HSMMtube	muscle
8	chr12:62669800-62688400	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr12:62670000-62688600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr12:62674400-62685600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr12:62674800-62688600	Weak transcription	Brain Angular Gyrus	brain
12	chr12:62676000-62685600	Weak transcription	Left Ventricle	heart
13	chr12:62676400-62685600	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr12:62676600-62688600	Weak transcription	Ovary	ovary
15	chr12:62677000-62688600	Weak transcription	Fetal Kidney	kidney
16	chr12:62679400-62685800	Weak transcription	Psoas Muscle	Psoas
17	chr12:62679400-62696800	Weak transcription	Fetal Brain Male	brain
18	chr12:62680400-62686000	Weak transcription	Colon Smooth Muscle	Colon
19	chr12:62680600-62685600	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr12:62681600-62685600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr12:62682400-62686000	ZNF genes & repeats	GM12878-XiMat	blood
22	chr12:62682800-62688600	Weak transcription	HepG2	liver
23	chr12:62683000-62685800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
24	chr12:62683200-62685800	Weak transcription	Monocytes-CD14+_RO01746	blood
25	chr12:62683200-62688600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr12:62683400-62685600	Weak transcription	Liver	Liver
27	chr12:62683600-62685600	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr12:62683600-62697600	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr12:62684000-62716200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr12:62684400-62686200	Weak transcription	Dnd41	blood
31	chr12:62684400-62687000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr12:62684600-62685600	Weak transcription	Rectal Smooth Muscle	rectum
33	chr12:62684800-62686200	Enhancers	NHEK	skin
34	chr12:62684800-62686600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr12:62684800-62687000	Enhancers	Fetal Heart	heart
36	chr12:62684800-62687200	Genic enhancers	K562	blood
37	chr12:62684800-62687400	Enhancers	Primary monocytes fromperipheralblood	blood
38	chr12:62685000-62685600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr12:62685000-62685600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
40	chr12:62685000-62685600	Weak transcription	Fetal Lung	lung
41	chr12:62685000-62686600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
42	chr12:62685000-62688600	Weak transcription	Primary B cells from cord blood	blood
43	chr12:62685000-62689400	Weak transcription	Brain Hippocampus Middle	brain
44	chr12:62685000-62691000	Weak transcription	Pancreatic Islets	Pancreatic Islet
45	chr12:62685200-62685600	Weak transcription	Primary T cells from cord blood	blood
46	chr12:62685200-62685600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr12:62685200-62685600	Weak transcription	Fetal Stomach	stomach
48	chr12:62685200-62685600	Weak transcription	Thymus	Thymus
49	chr12:62685200-62685800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
50	chr12:62685200-62686600	Enhancers	HMEC	breast

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