Variant report

Variant	rs73114426
Chromosome Location	chr12:57405049-57405050
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:57401104..57405112-chr12:57417084..57419989,4	MCF-7	breast:
2	chr12:57402632..57405227-chr12:57480481..57482124,2	K562	blood:
3	chr12:57399719..57402140-chr12:57402489..57405084,2	K562	blood:
4	chr12:57149918..57152187-chr12:57404047..57405928,2	K562	blood:
5	chr12:57405046..57406844-chr12:57416916..57419634,2	K562	blood:

Variant related genes	Relation type
ENSG00000166860	Chromatin interaction
ENSG00000166881	Chromatin interaction

Extended variants
information (count: 114 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10400412	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10400555	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1044939	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10506347	0.88[AMR][1000 genomes]
rs10506350	0.96[ASN][1000 genomes]
rs10506351	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1072670	0.88[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs11832487	0.91[ASN][1000 genomes]
rs11834851	0.94[ASN][1000 genomes]
rs11834856	0.94[ASN][1000 genomes]
rs11836517	0.94[ASN][1000 genomes]
rs12099695	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12810024	0.88[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12810837	0.93[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12812499	0.92[ASN][1000 genomes]
rs12815538	0.94[ASN][1000 genomes]
rs12818342	0.96[ASN][1000 genomes]
rs12824682	0.94[ASN][1000 genomes]
rs12825752	0.81[ASN][1000 genomes]
rs12827039	0.94[ASN][1000 genomes]
rs12827286	0.90[ASN][1000 genomes]
rs1552245	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17119301	0.95[ASN][1000 genomes]
rs17119327	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17119330	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17119344	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17119352	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17119386	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17119388	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17119390	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17119407	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17119416	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17119418	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1843311	0.94[ASN][1000 genomes]
rs1843312	0.94[ASN][1000 genomes]
rs1843313	0.94[ASN][1000 genomes]
rs2167306	0.94[ASN][1000 genomes]
rs2270736	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2270737	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2270739	0.94[ASN][1000 genomes]
rs2279373	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2279743	0.95[ASN][1000 genomes]
rs2291855	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2371717	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28589663	0.96[ASN][1000 genomes]
rs2888139	0.92[ASN][1000 genomes]
rs34186462	0.94[ASN][1000 genomes]
rs34253098	0.94[ASN][1000 genomes]
rs34359134	0.94[ASN][1000 genomes]
rs34762603	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34969650	0.94[ASN][1000 genomes]
rs35034299	0.94[ASN][1000 genomes]
rs35243318	0.94[ASN][1000 genomes]
rs35493121	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3782329	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3782330	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3803018	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3894415	0.95[ASN][1000 genomes]
rs4016338	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4039	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4143085	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56128678	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56270558	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56354404	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57056392	0.94[ASN][1000 genomes]
rs57129030	0.94[ASN][1000 genomes]
rs57351760	0.91[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs57558853	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58298943	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58389529	0.95[ASN][1000 genomes]
rs60258120	0.92[ASN][1000 genomes]
rs60273384	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60380217	0.94[ASN][1000 genomes]
rs61504157	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs67476535	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs67771054	0.94[ASN][1000 genomes]
rs67844278	0.95[ASN][1000 genomes]
rs68126184	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs697222	0.83[ASN][1000 genomes]
rs7135297	0.84[ASN][1000 genomes]
rs7136770	0.97[ASN][1000 genomes]
rs71461303	0.91[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs72482268	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs7298475	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73114428	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73114434	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73114436	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73114437	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73114446	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73114452	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73114457	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73114459	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73114467	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73114468	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73114472	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73116494	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73116501	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73118413	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73131120	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs733629	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs746049	0.94[ASN][1000 genomes]
rs7487948	0.94[ASN][1000 genomes]
rs754398	0.99[ASN][1000 genomes]
rs755221	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7956166	0.94[ASN][1000 genomes]
rs7961920	0.94[ASN][1000 genomes]
rs7962771	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7969312	0.94[ASN][1000 genomes]
rs7972615	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs901068	0.95[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	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
4	nsv559022	chr12:57394123-57410389	Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:57401000-57407800	Weak transcription	Brain Germinal Matrix	brain
2	chr12:57401000-57408200	Weak transcription	Gastric	stomach
3	chr12:57401000-57409600	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr12:57401200-57405200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr12:57401400-57406600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr12:57402000-57405200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr12:57402200-57405200	Weak transcription	Primary B cells from peripheral blood	blood
8	chr12:57402200-57405400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr12:57402200-57405800	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr12:57402400-57406000	Enhancers	H1 Cell Line	embryonic stem cell
11	chr12:57402600-57405200	Weak transcription	Placenta	Placenta
12	chr12:57403000-57405200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr12:57403000-57406800	Weak transcription	Fetal Intestine Large	intestine
14	chr12:57403000-57407000	Weak transcription	Stomach Smooth Muscle	stomach
15	chr12:57403000-57408000	Weak transcription	Fetal Intestine Small	intestine
16	chr12:57403200-57405200	Weak transcription	K562	blood
17	chr12:57403600-57405200	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr12:57403600-57405400	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr12:57403800-57405800	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr12:57404000-57405200	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr12:57404000-57405400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr12:57404200-57405200	Enhancers	Primary T helper cells PMA-I stimulated	--
23	chr12:57404400-57406000	Enhancers	Primary T helper naive cells from peripheral blood	blood
24	chr12:57404400-57406600	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr12:57404400-57406800	Enhancers	Primary T helper cells fromperipheralblood	blood
26	chr12:57404400-57407200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
27	chr12:57404600-57406000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr12:57404600-57406000	Enhancers	Primary T cells from cord blood	blood
29	chr12:57404600-57406000	Enhancers	Primary T cells fromperipheralblood	blood
30	chr12:57404600-57406000	Enhancers	Primary T killer memory cells from peripheral blood	blood
31	chr12:57404800-57405200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
32	chr12:57404800-57405200	Enhancers	GM12878-XiMat	blood
33	chr12:57404800-57405600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
34	chr12:57404800-57405800	Enhancers	Fetal Thymus	thymus
35	chr12:57404800-57408200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr12:57405000-57405200	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr12:57405000-57405200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr12:57405000-57405400	Enhancers	H9 Cell Line	embryonic stem cell
39	chr12:57405000-57405400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr12:57405000-57405400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
41	chr12:57405000-57405400	Enhancers	Cortex derived primary cultured neurospheres	brain
42	chr12:57405000-57405600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
43	chr12:57405000-57405600	Enhancers	Osteobl	bone
44	chr12:57405000-57405800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood

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