Variant report

Variant	rs67853252
Chromosome Location	chr12:62686523-62686524
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:62653472..62656120-chr12:62686475..62688056,2	K562	blood:
2	chr12:62685750..62688478-chr12:62691387..62693441,2	MCF-7	breast:
3	chr12:62665900..62668712-chr12:62685607..62687390,2	K562	blood:
4	chr12:62684895..62687117-chr12:62701993..62704018,2	MCF-7	breast:
5	chr12:62653472..62655567-chr12:62686117..62688056,2	K562	blood:
6	chr12:62683752..62687309-chr12:62693284..62697639,4	K562	blood:
7	chr12:62685329..62689047-chr12:62691891..62696883,6	K562	blood:

Variant related genes	Relation type
ENSG00000135655	Chromatin interaction
ENSG00000198673	Chromatin interaction

Extended variants
information (count: 92 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:88)

rs_ID	r²[population]
rs10160868	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10160955	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10431509	0.91[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs10431510	0.83[ASN][1000 genomes]
rs10459253	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10506440	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10784292	0.98[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	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10877824	0.91[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs10877826	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10877834	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11174397	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11174398	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11174399	0.96[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	0.89[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs11174409	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11174410	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11174411	0.81[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs11174412	0.91[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs11174416	0.87[ASN][1000 genomes]
rs11174417	0.85[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs11174418	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11174420	0.87[ASN][1000 genomes]
rs11174423	0.83[ASN][1000 genomes]
rs11174424	0.86[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs11174428	0.84[ASN][1000 genomes]
rs11174431	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11174433	0.82[ASN][1000 genomes]
rs11174435	0.80[ASN][1000 genomes]
rs11174436	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11174437	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11174458	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11174464	0.88[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	0.96[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	0.87[ASN][1000 genomes]
rs11836268	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12228015	0.91[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs12229271	0.98[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	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12297480	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12299072	0.84[ASN][1000 genomes]
rs12307900	0.84[ASN][1000 genomes]
rs12308455	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12310318	0.84[ASN][1000 genomes]
rs12310651	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12311259	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12311279	0.96[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	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12317437	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12318287	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1901239	0.85[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs2122660	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2131434	0.85[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs2131435	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2167287	0.93[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	0.98[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	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66507062	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs67044039	1.00[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	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7298827	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7300928	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7302033	0.84[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs7302617	0.84[ASN][1000 genomes]
rs7309209	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73136889	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73321563	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs767391	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7953967	0.91[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs7956332	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7963950	0.93[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	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7974973	0.94[AFR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7976058	0.89[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs7976608	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9634284	0.95[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:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:62665000-62688000	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr12:62667800-62689000	Weak transcription	HSMMtube	muscle
3	chr12:62669800-62688400	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr12:62670000-62688600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr12:62674800-62688600	Weak transcription	Brain Angular Gyrus	brain
6	chr12:62676600-62688600	Weak transcription	Ovary	ovary
7	chr12:62677000-62688600	Weak transcription	Fetal Kidney	kidney
8	chr12:62679400-62696800	Weak transcription	Fetal Brain Male	brain
9	chr12:62682800-62688600	Weak transcription	HepG2	liver
10	chr12:62683200-62688600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr12:62683600-62697600	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr12:62684000-62716200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr12:62684400-62687000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr12:62684800-62686600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr12:62684800-62687000	Enhancers	Fetal Heart	heart
16	chr12:62684800-62687200	Genic enhancers	K562	blood
17	chr12:62684800-62687400	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr12:62685000-62686600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
19	chr12:62685000-62688600	Weak transcription	Primary B cells from cord blood	blood
20	chr12:62685000-62689400	Weak transcription	Brain Hippocampus Middle	brain
21	chr12:62685000-62691000	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr12:62685200-62686600	Enhancers	HMEC	breast
23	chr12:62685200-62687000	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr12:62685200-62687200	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr12:62685200-62687400	Enhancers	Primary T helper cells PMA-I stimulated	--
26	chr12:62685200-62688600	Weak transcription	Brain Substantia Nigra	brain
27	chr12:62685400-62686600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
28	chr12:62685400-62686600	Enhancers	NH-A	brain
29	chr12:62685400-62686800	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr12:62685400-62686800	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr12:62685400-62686800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr12:62685400-62686800	Genic enhancers	Primary B cells from peripheral blood	blood
33	chr12:62685400-62686800	Enhancers	Primary T helper naive cells from peripheral blood	blood
34	chr12:62685400-62687000	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr12:62685400-62687000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr12:62685400-62687000	Enhancers	Primary neutrophils fromperipheralblood	blood
37	chr12:62685400-62687000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
38	chr12:62685400-62687000	Enhancers	Primary T helper cells fromperipheralblood	blood
39	chr12:62685400-62687000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr12:62685400-62687000	Enhancers	NHDF-Ad	bronchial
41	chr12:62685400-62687000	Enhancers	NHLF	lung
42	chr12:62685400-62687200	Enhancers	Osteobl	bone
43	chr12:62685400-62687400	Enhancers	Primary T cells fromperipheralblood	blood
44	chr12:62685400-62691200	Weak transcription	Brain Cingulate Gyrus	brain
45	chr12:62685600-62686600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr12:62685600-62686600	Enhancers	Placenta	Placenta
47	chr12:62685600-62686800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr12:62685600-62686800	ZNF genes & repeats	Thymus	Thymus
49	chr12:62685600-62687000	Enhancers	H1 Cell Line	embryonic stem cell
50	chr12:62685600-62687000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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