Variant report

Variant	rs60273384
Chromosome Location	chr12:57391473-57391474
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:57390910..57392433-chr12:57396943..57398825,2	MCF-7	breast:
2	chr12:57390941..57393744-chr12:57417864..57420456,3	K562	blood:
3	chr12:57232587..57235478-chr12:57391420..57395425,3	MCF-7	breast:
4	chr12:57144483..57147144-chr12:57389426..57391985,2	MCF-7	breast:
5	chr12:57380165..57383091-chr12:57391250..57394280,3	K562	blood:
6	chr12:57383555..57386329-chr12:57391062..57393949,2	K562	blood:
7	chr12:57385239..57389108-chr12:57389505..57392552,4	MCF-7	breast:
8	chr12:57246734..57248448-chr12:57391333..57392959,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000198056	Chromatin interaction
ENSG00000166856	Chromatin interaction
ENSG00000025423	Chromatin interaction

Extended variants
information (count: 112 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:109)

rs_ID	r²[population]
rs10400412	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10400555	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1044939	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10506347	0.88[AMR][1000 genomes]
rs10506350	1.00[ASN][1000 genomes]
rs10506351	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1072670	0.88[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs11832487	0.95[ASN][1000 genomes]
rs11834851	0.97[ASN][1000 genomes]
rs11834856	0.97[ASN][1000 genomes]
rs11836517	0.97[ASN][1000 genomes]
rs12099695	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12810024	0.88[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12810837	0.93[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12812499	0.96[ASN][1000 genomes]
rs12815538	0.97[ASN][1000 genomes]
rs12818342	0.97[ASN][1000 genomes]
rs12824682	0.97[ASN][1000 genomes]
rs12827039	0.97[ASN][1000 genomes]
rs12827286	0.94[ASN][1000 genomes]
rs1552245	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17119301	0.99[ASN][1000 genomes]
rs17119327	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17119330	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17119344	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17119352	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17119386	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17119388	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17119390	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17119407	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17119416	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17119418	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1843311	0.97[ASN][1000 genomes]
rs1843312	0.97[ASN][1000 genomes]
rs1843313	0.97[ASN][1000 genomes]
rs2167306	0.97[ASN][1000 genomes]
rs2270736	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2270737	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2270739	0.93[ASN][1000 genomes]
rs2279373	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2279743	0.99[ASN][1000 genomes]
rs2291855	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2371717	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28589663	0.97[ASN][1000 genomes]
rs2888139	0.96[ASN][1000 genomes]
rs34186462	0.97[ASN][1000 genomes]
rs34253098	0.97[ASN][1000 genomes]
rs34359134	0.97[ASN][1000 genomes]
rs34762603	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34969650	0.97[ASN][1000 genomes]
rs35034299	0.97[ASN][1000 genomes]
rs35243318	0.97[ASN][1000 genomes]
rs35493121	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3782329	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3782330	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3803018	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3894415	0.99[ASN][1000 genomes]
rs4016338	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4039	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4143085	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56128678	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56270558	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56354404	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs57056392	0.93[ASN][1000 genomes]
rs57129030	0.97[ASN][1000 genomes]
rs57351760	0.91[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs57558853	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58298943	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs58389529	0.91[ASN][1000 genomes]
rs60258120	0.96[ASN][1000 genomes]
rs60380217	0.97[ASN][1000 genomes]
rs61504157	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs67476535	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67771054	0.97[ASN][1000 genomes]
rs67844278	0.99[ASN][1000 genomes]
rs68126184	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs697222	0.82[ASN][1000 genomes]
rs7135297	0.83[ASN][1000 genomes]
rs7136770	0.99[ASN][1000 genomes]
rs71461303	0.91[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs72482268	0.93[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs7298475	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73114426	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73114428	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73114434	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73114436	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73114437	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73114446	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73114452	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73114457	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73114459	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73114467	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73114468	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73114472	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73116494	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73116501	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73118413	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73131120	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs733629	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs746049	0.97[ASN][1000 genomes]
rs7487948	0.97[ASN][1000 genomes]
rs754398	0.97[ASN][1000 genomes]
rs755221	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7956166	0.97[ASN][1000 genomes]
rs7961920	0.93[ASN][1000 genomes]
rs7962771	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7969312	0.97[ASN][1000 genomes]
rs7972615	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs901068	0.96[ASN][1000 genomes]

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	nsv1040850	chr12:57055011-57679209	Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	181 gene(s)	inside rSNPs	diseases
2	nsv428590	chr12:57329214-57527358	Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
3	nsv832428	chr12:57340609-57535694	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:57377000-57395200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr12:57381400-57393800	Weak transcription	Rectal Smooth Muscle	rectum
3	chr12:57381400-57395400	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr12:57381400-57396400	Weak transcription	HMEC	breast
5	chr12:57381800-57392600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr12:57381800-57393400	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr12:57381800-57393400	Weak transcription	Pancreas	Pancrea
8	chr12:57381800-57395200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr12:57381800-57396400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr12:57381800-57397000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr12:57382000-57392000	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr12:57382000-57392400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr12:57382600-57393000	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr12:57382600-57393200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr12:57383000-57391800	Weak transcription	A549	lung
16	chr12:57383000-57393600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr12:57383200-57394400	Weak transcription	Hela-S3	cervix
18	chr12:57383200-57398800	Weak transcription	Fetal Heart	heart
19	chr12:57385400-57391800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr12:57385400-57393600	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr12:57385400-57394000	Weak transcription	NH-A	brain
22	chr12:57385400-57395400	Weak transcription	Stomach Mucosa	stomach
23	chr12:57385400-57396000	Weak transcription	Primary neutrophils fromperipheralblood	blood
24	chr12:57385600-57391600	Weak transcription	Primary T helper cells fromperipheralblood	blood
25	chr12:57385600-57391800	Weak transcription	Right Atrium	heart
26	chr12:57385600-57392000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr12:57385600-57392800	Weak transcription	NHEK	skin
28	chr12:57385600-57393400	Weak transcription	Left Ventricle	heart
29	chr12:57385600-57393800	Weak transcription	Brain Cingulate Gyrus	brain
30	chr12:57385600-57394200	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr12:57385600-57394200	Weak transcription	Ovary	ovary
32	chr12:57385600-57396200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr12:57385800-57391600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr12:57385800-57393800	Weak transcription	Primary monocytes fromperipheralblood	blood
35	chr12:57385800-57394000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr12:57385800-57394000	Weak transcription	Colon Smooth Muscle	Colon
37	chr12:57385800-57395200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr12:57386000-57393000	Weak transcription	Monocytes-CD14+_RO01746	blood
39	chr12:57386000-57393800	Weak transcription	HepG2	liver
40	chr12:57386000-57395400	Weak transcription	HUVEC	blood vessel
41	chr12:57386200-57392000	Weak transcription	GM12878-XiMat	blood
42	chr12:57387000-57394200	Weak transcription	NHLF	lung
43	chr12:57387400-57392400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr12:57387400-57393400	Weak transcription	Placenta	Placenta
45	chr12:57387600-57391600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
46	chr12:57387600-57394000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr12:57387800-57395400	Strong transcription	Fetal Stomach	stomach
48	chr12:57388400-57393400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr12:57388400-57395200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
50	chr12:57388600-57393800	Weak transcription	Fetal Brain Male	brain

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