Variant report

Variant	rs61952923
Chromosome Location	chr12:122521477-122521478
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:122519765..122522172-chr12:122528725..122530801,2	MCF-7	breast:
2	chr12:122521372..122523927-chr12:122590868..122592602,3	K562	blood:
3	chr12:122520632..122523155-chr12:122581456..122583885,2	MCF-7	breast:

Extended variants
information (count: 116 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:111)

rs_ID	r²[population]
rs1047796	0.83[EUR][1000 genomes]
rs1047813	0.85[EUR][1000 genomes]
rs10744177	0.84[EUR][1000 genomes]
rs10744335	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10770189	0.81[EUR][1000 genomes]
rs10773037	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10846525	0.84[EUR][1000 genomes]
rs11057184	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11057654	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11057905	0.87[EUR][1000 genomes]
rs11059094	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11060477	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11061156	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11061602	0.85[EUR][1000 genomes]
rs11608788	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11608792	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11609875	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11835818	0.84[EUR][1000 genomes]
rs12366611	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12812519	0.80[EUR][1000 genomes]
rs1976859	0.82[EUR][1000 genomes]
rs2280573	0.82[EUR][1000 genomes]
rs2280574	0.82[EUR][1000 genomes]
rs28385906	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28401575	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28410367	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28414202	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28421373	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28430881	0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28450064	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28453771	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28461580	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28464252	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28478366	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28478717	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28498002	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28498376	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28503672	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28506952	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28517281	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28529535	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28530689	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs28545660	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28548845	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28569273	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28580546	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28585613	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28591322	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28605425	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28607028	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28613772	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28626850	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28629903	0.86[EUR][1000 genomes]
rs28631172	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28639626	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28642975	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28649184	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28652632	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28683032	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28691281	0.82[EUR][1000 genomes]
rs28699616	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28737311	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28739522	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28759327	0.83[EUR][1000 genomes]
rs34047484	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34123446	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34439774	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs34532891	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34739240	0.80[EUR][1000 genomes]
rs34741056	0.92[EUR][1000 genomes]
rs34974633	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35159488	0.81[EUR][1000 genomes]
rs35249105	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35676267	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35764187	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs36079122	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3809117	0.84[EUR][1000 genomes]
rs3892367	0.89[EUR][1000 genomes]
rs4758653	0.84[EUR][1000 genomes]
rs4758654	0.84[EUR][1000 genomes]
rs4758685	0.85[EUR][1000 genomes]
rs4758686	0.85[EUR][1000 genomes]
rs4758687	0.85[EUR][1000 genomes]
rs4758688	0.81[EUR][1000 genomes]
rs4758690	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4758691	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs61952902	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61952904	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61952920	0.91[EUR][1000 genomes]
rs61952922	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6489238	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6489242	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6489244	0.86[EUR][1000 genomes]
rs7137049	0.82[EUR][1000 genomes]
rs7312210	0.85[EUR][1000 genomes]
rs73217796	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7484733	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7485054	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7485380	0.85[EUR][1000 genomes]
rs7485447	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7486198	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7488268	0.85[EUR][1000 genomes]
rs7488393	0.87[EUR][1000 genomes]
rs7488857	0.85[EUR][1000 genomes]
rs7953704	0.85[EUR][1000 genomes]
rs7955571	0.85[EUR][1000 genomes]
rs7955575	0.85[EUR][1000 genomes]
rs7962500	0.85[EUR][1000 genomes]
rs7964148	0.83[EUR][1000 genomes]
rs7967127	0.82[EUR][1000 genomes]
rs7975001	0.85[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:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122517000-122521800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr12:122518200-122525200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr12:122518400-122522400	Transcr. at gene 5' and 3'	K562	blood
4	chr12:122518600-122529200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr12:122518800-122521600	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr12:122518800-122526400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr12:122519000-122521800	Weak transcription	Ovary	ovary
8	chr12:122519000-122521800	Enhancers	Spleen	Spleen
9	chr12:122519200-122523000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr12:122519200-122523800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr12:122519200-122527800	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr12:122519400-122521800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr12:122519800-122521600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr12:122519800-122522400	Enhancers	Fetal Heart	heart
15	chr12:122519800-122522800	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr12:122520000-122521600	Flanking Active TSS	Duodenum Mucosa	Duodenum
17	chr12:122520000-122522000	Weak transcription	Aorta	Aorta
18	chr12:122520000-122522200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
19	chr12:122520000-122525600	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr12:122520200-122521800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr12:122520200-122521800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr12:122520200-122521800	Enhancers	Primary B cells from peripheral blood	blood
23	chr12:122520200-122521800	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr12:122520200-122521800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr12:122520200-122523000	Enhancers	Primary neutrophils fromperipheralblood	blood
26	chr12:122520200-122527000	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr12:122520400-122521800	Enhancers	Primary monocytes fromperipheralblood	blood
28	chr12:122520400-122521800	Enhancers	Primary B cells from cord blood	blood
29	chr12:122520400-122521800	Weak transcription	NH-A	brain
30	chr12:122520400-122522000	Weak transcription	NHEK	skin
31	chr12:122520400-122526600	Genic enhancers	Fetal Intestine Small	intestine
32	chr12:122520400-122529400	Genic enhancers	Sigmoid Colon	Sigmoid Colon
33	chr12:122520600-122521600	Weak transcription	HSMM	muscle
34	chr12:122520600-122521800	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr12:122520600-122521800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr12:122520600-122521800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
37	chr12:122520600-122521800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr12:122520600-122521800	Weak transcription	Fetal Brain Female	brain
39	chr12:122520600-122521800	Weak transcription	HSMMtube	muscle
40	chr12:122520600-122522000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
41	chr12:122520600-122522000	Genic enhancers	Fetal Stomach	stomach
42	chr12:122520600-122522800	Enhancers	Psoas Muscle	Psoas
43	chr12:122520600-122523000	Weak transcription	Hela-S3	cervix
44	chr12:122520600-122523800	Weak transcription	Pancreatic Islets	Pancreatic Islet
45	chr12:122520600-122524600	Weak transcription	NHDF-Ad	bronchial
46	chr12:122520600-122525800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr12:122520600-122526200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr12:122520800-122521600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr12:122520800-122521600	Enhancers	Adipose Nuclei	Adipose
50	chr12:122520800-122521600	Weak transcription	Brain Substantia Nigra	brain

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