Variant report

Variant	rs34123446
Chromosome Location	chr12:122511238-122511239
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:122508765..122512478-chr12:122512522..122516495,6	MCF-7	breast:
2	chr12:122508955..122511694-chr12:122516561..122520198,3	MCF-7	breast:
3	chr12:122504560..122506469-chr12:122511107..122512747,2	K562	blood:
4	chr12:122499264..122502841-chr12:122510624..122513814,3	K562	blood:

Variant related genes	Relation type
ENSG00000175727	Chromatin interaction
ENSG00000256546	Chromatin interaction

Extended variants
information (count: 119 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:114)

rs_ID	r²[population]
rs1047796	0.84[EUR][1000 genomes]
rs1047813	0.86[EUR][1000 genomes]
rs10744177	0.85[EUR][1000 genomes]
rs10744335	0.87[EUR][1000 genomes]
rs10770189	0.84[EUR][1000 genomes]
rs10773037	0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10846525	0.84[EUR][1000 genomes]
rs11057184	0.95[EUR][1000 genomes]
rs11057654	0.95[EUR][1000 genomes]
rs11057905	0.88[EUR][1000 genomes]
rs11059094	0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11060477	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11061156	0.91[EUR][1000 genomes]
rs11061602	0.85[EUR][1000 genomes]
rs11608788	0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11608792	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11609875	0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11835818	0.87[EUR][1000 genomes]
rs12230227	0.81[EUR][1000 genomes]
rs12366611	0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12812519	0.83[EUR][1000 genomes]
rs1316787	0.80[EUR][1000 genomes]
rs1976859	0.85[EUR][1000 genomes]
rs2280573	0.85[EUR][1000 genomes]
rs2280574	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs28385906	0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs28401575	0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28410367	0.91[EUR][1000 genomes]
rs28414202	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28421373	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28430881	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28450064	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28453771	0.93[EUR][1000 genomes]
rs28461580	0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28464252	0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28478366	0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28478717	0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28498002	0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28498376	0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28503672	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28506952	0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28517281	0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28529535	0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28530689	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28545660	0.88[EUR][1000 genomes]
rs28548845	0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28569273	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28580546	0.91[EUR][1000 genomes]
rs28585613	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28591322	0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28605425	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28607028	0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28613772	0.92[EUR][1000 genomes]
rs28626850	0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28629903	0.90[EUR][1000 genomes]
rs28631172	0.93[EUR][1000 genomes]
rs28639626	0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28642975	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28649184	0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28652632	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28683032	0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs28691281	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs28699616	0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28737311	0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28739522	0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28759327	0.87[EUR][1000 genomes]
rs34047484	0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34439774	0.83[EUR][1000 genomes]
rs34532891	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34739240	0.83[EUR][1000 genomes]
rs34741056	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34974633	0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35159488	0.84[EUR][1000 genomes]
rs35249105	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35676267	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35764187	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs36079122	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3809117	0.85[EUR][1000 genomes]
rs3892367	0.90[EUR][1000 genomes]
rs4758653	0.85[EUR][1000 genomes]
rs4758654	0.84[EUR][1000 genomes]
rs4758685	0.86[EUR][1000 genomes]
rs4758686	0.86[EUR][1000 genomes]
rs4758687	0.85[EUR][1000 genomes]
rs4758688	0.81[EUR][1000 genomes]
rs4758690	0.88[EUR][1000 genomes]
rs4758691	0.89[EUR][1000 genomes]
rs56072019	0.80[EUR][1000 genomes]
rs61952902	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61952904	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61952920	0.94[EUR][1000 genomes]
rs61952922	0.97[EUR][1000 genomes]
rs61952923	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6489238	0.87[EUR][1000 genomes]
rs6489242	0.87[EUR][1000 genomes]
rs6489244	0.87[EUR][1000 genomes]
rs7137049	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7312210	0.86[EUR][1000 genomes]
rs73217796	0.88[EUR][1000 genomes]
rs7484733	0.88[EUR][1000 genomes]
rs7485054	0.83[EUR][1000 genomes]
rs7485380	0.85[EUR][1000 genomes]
rs7485447	0.88[EUR][1000 genomes]
rs7486198	0.88[EUR][1000 genomes]
rs7488268	0.85[EUR][1000 genomes]
rs7488393	0.88[EUR][1000 genomes]
rs7488857	0.86[EUR][1000 genomes]
rs7953704	0.86[EUR][1000 genomes]
rs7955571	0.85[EUR][1000 genomes]
rs7955575	0.85[EUR][1000 genomes]
rs7962500	0.86[EUR][1000 genomes]
rs7964148	0.84[EUR][1000 genomes]
rs7967127	0.83[EUR][1000 genomes]
rs7975001	0.86[EUR][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	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
2	nsv916686	chr12:122240149-122714056	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
3	esv34001	chr12:122298737-122521637	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv899569	chr12:122478728-122630909	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	nsv527450	chr12:122481290-122676531	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122502600-122516200	Weak transcription	Gastric	stomach
2	chr12:122503400-122514800	Weak transcription	Fetal Intestine Large	intestine
3	chr12:122503400-122516000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr12:122503400-122516000	Weak transcription	Esophagus	oesophagus
5	chr12:122503600-122515800	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr12:122506400-122515000	Weak transcription	Lung	lung
7	chr12:122506400-122516000	Weak transcription	Small Intestine	intestine
8	chr12:122506600-122514800	Weak transcription	Duodenum Mucosa	Duodenum
9	chr12:122506600-122515800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr12:122507400-122515400	Weak transcription	Primary hematopoietic stem cells	blood
11	chr12:122508400-122515600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr12:122509400-122511400	Enhancers	Rectal Smooth Muscle	rectum
13	chr12:122510000-122512000	Enhancers	K562	blood
14	chr12:122510400-122511400	Enhancers	Colon Smooth Muscle	Colon
15	chr12:122510600-122514400	Weak transcription	Colonic Mucosa	Colon
16	chr12:122510600-122514600	Weak transcription	Fetal Intestine Small	intestine
17	chr12:122510600-122514800	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr12:122510600-122515000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr12:122510600-122515200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr12:122510600-122515200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr12:122510600-122515200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr12:122510600-122515200	Weak transcription	Psoas Muscle	Psoas
23	chr12:122510600-122515800	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr12:122510600-122516000	Weak transcription	Placenta	Placenta
25	chr12:122510600-122516000	Weak transcription	Left Ventricle	heart
26	chr12:122510800-122511400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr12:122510800-122511400	Enhancers	Skeletal Muscle Female	skeletal muscle
28	chr12:122510800-122511400	Enhancers	Hela-S3	cervix
29	chr12:122510800-122511600	Weak transcription	Ovary	ovary
30	chr12:122510800-122511800	Enhancers	Stomach Smooth Muscle	stomach
31	chr12:122510800-122513600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr12:122510800-122515000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr12:122510800-122515000	Weak transcription	Pancreas	Pancrea
34	chr12:122510800-122515000	Weak transcription	Stomach Mucosa	stomach
35	chr12:122510800-122515200	Weak transcription	Adipose Nuclei	Adipose
36	chr12:122510800-122515200	Weak transcription	Fetal Lung	lung
37	chr12:122510800-122515200	Weak transcription	Fetal Muscle Leg	muscle
38	chr12:122510800-122515400	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr12:122510800-122515400	Weak transcription	HSMMtube	muscle
40	chr12:122510800-122515600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr12:122510800-122515600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr12:122510800-122515600	Weak transcription	Right Atrium	heart
43	chr12:122510800-122515600	Weak transcription	NHDF-Ad	bronchial
44	chr12:122510800-122515800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr12:122510800-122515800	Weak transcription	Brain Hippocampus Middle	brain
46	chr12:122510800-122515800	Weak transcription	Brain Substantia Nigra	brain
47	chr12:122510800-122516000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr12:122511000-122511600	Enhancers	A549	lung
49	chr12:122511000-122514800	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr12:122511000-122514800	Weak transcription	HepG2	liver

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