Variant report

Variant	rs73116494
Chromosome Location	chr12:57459209-57459210
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:57456951..57459924-chr12:57524961..57526589,2	K562	blood:
2	chr12:57441680..57443565-chr12:57457016..57459681,2	K562	blood:
3	chr12:57456937..57461410-chr12:57480845..57484491,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000166886	Chromatin interaction
ENSG00000166881	Chromatin interaction
ENSG00000166888	Chromatin interaction

Extended variants
information (count: 115 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10400412	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10400555	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1044939	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10506350	0.83[ASN][1000 genomes]
rs10506351	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11832487	0.81[ASN][1000 genomes]
rs11834851	0.81[ASN][1000 genomes]
rs11834856	0.81[ASN][1000 genomes]
rs11836517	0.81[ASN][1000 genomes]
rs12099695	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12810837	0.82[ASN][1000 genomes]
rs12812499	0.82[ASN][1000 genomes]
rs12815538	0.81[ASN][1000 genomes]
rs12818342	0.81[ASN][1000 genomes]
rs12824682	0.81[ASN][1000 genomes]
rs12827039	0.81[ASN][1000 genomes]
rs1552245	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17119301	0.82[ASN][1000 genomes]
rs17119327	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17119330	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17119344	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17119352	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17119386	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17119388	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17119390	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17119407	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17119416	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17119418	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1843311	0.81[ASN][1000 genomes]
rs1843312	0.81[ASN][1000 genomes]
rs1843313	0.81[ASN][1000 genomes]
rs2035545	0.88[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2167306	0.81[ASN][1000 genomes]
rs2233267	0.85[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2270736	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2270737	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2270739	0.90[ASN][1000 genomes]
rs2279373	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2279743	0.82[ASN][1000 genomes]
rs2291855	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2371717	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28589663	0.81[ASN][1000 genomes]
rs2888139	0.82[ASN][1000 genomes]
rs34186462	0.81[ASN][1000 genomes]
rs34253098	0.81[ASN][1000 genomes]
rs34359134	0.81[ASN][1000 genomes]
rs34762603	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34969650	0.83[ASN][1000 genomes]
rs35034299	0.81[ASN][1000 genomes]
rs35243318	0.81[ASN][1000 genomes]
rs35493121	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35937600	0.89[ASN][1000 genomes]
rs3759134	0.88[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs3759135	0.88[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs3782329	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3782330	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3803018	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3894415	0.82[ASN][1000 genomes]
rs4016338	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4039	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4143085	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56128678	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56270558	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56354404	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs57056392	0.90[ASN][1000 genomes]
rs57129030	0.81[ASN][1000 genomes]
rs57558853	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs58298943	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs58389529	0.89[ASN][1000 genomes]
rs60273384	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs60380217	0.81[ASN][1000 genomes]
rs61504157	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs66741626	0.87[ASN][1000 genomes]
rs67476535	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs67771054	0.81[ASN][1000 genomes]
rs67844278	0.82[ASN][1000 genomes]
rs68126184	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs697222	0.85[ASN][1000 genomes]
rs7135297	1.00[ASN][1000 genomes]
rs7136770	0.82[ASN][1000 genomes]
rs71461303	0.82[ASN][1000 genomes]
rs72482268	0.82[ASN][1000 genomes]
rs7298475	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73114426	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73114428	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73114434	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73114436	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73114437	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73114446	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73114452	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73114457	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73114459	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73114467	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73114468	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73114472	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73116501	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73118413	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73118416	0.88[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs73118418	0.88[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs73131120	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs733629	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs746049	0.81[ASN][1000 genomes]
rs7487948	0.81[ASN][1000 genomes]
rs754398	0.86[ASN][1000 genomes]
rs755221	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7956166	0.81[ASN][1000 genomes]
rs7961920	0.90[ASN][1000 genomes]
rs7962771	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7969312	0.81[ASN][1000 genomes]
rs7972615	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	nsv899110	chr12:57422934-57472502	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv899111	chr12:57438658-57472502	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:57420400-57471800	Weak transcription	Gastric	stomach
2	chr12:57437000-57471400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr12:57440400-57463200	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr12:57442200-57471600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr12:57444000-57463400	Weak transcription	Spleen	Spleen
6	chr12:57444600-57463400	Weak transcription	Colonic Mucosa	Colon
7	chr12:57445000-57464400	Weak transcription	Brain Substantia Nigra	brain
8	chr12:57448000-57462400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr12:57448000-57463400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr12:57448000-57472800	Weak transcription	Fetal Heart	heart
11	chr12:57448400-57462800	Strong transcription	Fetal Thymus	thymus
12	chr12:57448600-57471800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr12:57449000-57467200	Strong transcription	HUES64 Cell Line	embryonic stem cell
14	chr12:57449000-57468800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr12:57449000-57470600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr12:57449200-57463200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr12:57449200-57466800	Strong transcription	HUES6 Cell Line	embryonic stem cell
18	chr12:57449600-57459400	Strong transcription	Dnd41	blood
19	chr12:57449800-57466800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
20	chr12:57450000-57466800	Strong transcription	HUES48 Cell Line	embryonic stem cell
21	chr12:57450200-57466800	Strong transcription	Fetal Muscle Trunk	muscle
22	chr12:57450600-57463400	Strong transcription	K562	blood
23	chr12:57450800-57466800	Strong transcription	H1 Cell Line	embryonic stem cell
24	chr12:57451400-57463400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr12:57451400-57463400	Weak transcription	Rectal Smooth Muscle	rectum
26	chr12:57452600-57472800	Weak transcription	Fetal Brain Male	brain
27	chr12:57453000-57463200	Weak transcription	Colon Smooth Muscle	Colon
28	chr12:57453800-57463200	Weak transcription	Brain Angular Gyrus	brain
29	chr12:57453800-57463200	Weak transcription	Fetal Kidney	kidney
30	chr12:57453800-57463400	Weak transcription	Brain Cingulate Gyrus	brain
31	chr12:57453800-57463400	Weak transcription	Psoas Muscle	Psoas
32	chr12:57453800-57463600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr12:57453800-57471800	Weak transcription	Esophagus	oesophagus
34	chr12:57453800-57471800	Weak transcription	Lung	lung
35	chr12:57453800-57471800	Weak transcription	Pancreas	Pancrea
36	chr12:57453800-57471800	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr12:57453800-57471800	Weak transcription	Right Ventricle	heart
38	chr12:57453800-57471800	Weak transcription	Small Intestine	intestine
39	chr12:57453800-57472000	Weak transcription	Aorta	Aorta
40	chr12:57454000-57463400	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr12:57454000-57464200	Weak transcription	Ovary	ovary
42	chr12:57454000-57471200	Weak transcription	Fetal Brain Female	brain
43	chr12:57454200-57462000	Weak transcription	Adipose Nuclei	Adipose
44	chr12:57454200-57463400	Weak transcription	Liver	Liver
45	chr12:57454200-57471400	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr12:57454400-57460000	Weak transcription	Stomach Smooth Muscle	stomach
47	chr12:57454400-57461600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr12:57454400-57463200	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr12:57454400-57463400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr12:57454400-57463600	Weak transcription	Duodenum Smooth Muscle	Duodenum

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