Variant report

Variant	rs61952922
Chromosome Location	chr12:122520575-122520576
allele	A/G
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	chr12:122516647..122521114-chr12:122579806..122584006,9	K562	blood:
3	chr12:122499171..122504349-chr12:122514733..122520643,17	K562	blood:

Variant related genes	Relation type
ENSG00000256546	Chromatin interaction

Extended variants
information (count: 117 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:112)

rs_ID	r²[population]
rs1047796	0.84[EUR][1000 genomes]
rs1047813	0.86[EUR][1000 genomes]
rs10744177	0.86[EUR][1000 genomes]
rs10744335	0.87[EUR][1000 genomes]
rs10770189	0.83[EUR][1000 genomes]
rs10773037	0.95[EUR][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]
rs11060477	0.95[EUR][1000 genomes]
rs11061156	0.91[EUR][1000 genomes]
rs11061602	0.86[EUR][1000 genomes]
rs11608788	0.95[EUR][1000 genomes]
rs11608792	0.95[EUR][1000 genomes]
rs11609875	0.94[EUR][1000 genomes]
rs11835818	0.86[EUR][1000 genomes]
rs12366611	0.95[EUR][1000 genomes]
rs12812519	0.82[EUR][1000 genomes]
rs1976859	0.84[EUR][1000 genomes]
rs2280573	0.84[EUR][1000 genomes]
rs2280574	0.84[EUR][1000 genomes]
rs28385906	0.95[EUR][1000 genomes]
rs28401575	0.96[EUR][1000 genomes]
rs28410367	0.91[EUR][1000 genomes]
rs28414202	0.96[EUR][1000 genomes]
rs28421373	0.94[EUR][1000 genomes]
rs28430881	0.96[EUR][1000 genomes]
rs28450064	0.94[EUR][1000 genomes]
rs28453771	0.93[EUR][1000 genomes]
rs28461580	0.95[EUR][1000 genomes]
rs28464252	0.95[EUR][1000 genomes]
rs28478366	0.95[EUR][1000 genomes]
rs28478717	0.96[EUR][1000 genomes]
rs28498002	0.95[EUR][1000 genomes]
rs28498376	0.95[EUR][1000 genomes]
rs28503672	0.96[EUR][1000 genomes]
rs28506952	0.95[EUR][1000 genomes]
rs28517281	0.96[EUR][1000 genomes]
rs28529535	0.95[EUR][1000 genomes]
rs28530689	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs28545660	0.88[EUR][1000 genomes]
rs28548845	0.96[EUR][1000 genomes]
rs28569273	0.94[EUR][1000 genomes]
rs28580546	0.91[EUR][1000 genomes]
rs28585613	0.94[EUR][1000 genomes]
rs28591322	0.96[EUR][1000 genomes]
rs28605425	0.94[EUR][1000 genomes]
rs28607028	0.96[EUR][1000 genomes]
rs28613772	0.92[EUR][1000 genomes]
rs28626850	0.95[EUR][1000 genomes]
rs28629903	0.88[EUR][1000 genomes]
rs28631172	0.93[EUR][1000 genomes]
rs28639626	0.95[EUR][1000 genomes]
rs28642975	0.92[EUR][1000 genomes]
rs28649184	0.95[EUR][1000 genomes]
rs28652632	0.96[EUR][1000 genomes]
rs28683032	0.95[EUR][1000 genomes]
rs28691281	0.84[EUR][1000 genomes]
rs28699616	0.96[EUR][1000 genomes]
rs28737311	0.96[EUR][1000 genomes]
rs28739522	0.95[EUR][1000 genomes]
rs28759327	0.85[EUR][1000 genomes]
rs34047484	0.95[EUR][1000 genomes]
rs34123446	0.97[EUR][1000 genomes]
rs34439774	0.83[EUR][1000 genomes]
rs34532891	0.94[EUR][1000 genomes]
rs34739240	0.82[EUR][1000 genomes]
rs34741056	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34974633	0.94[EUR][1000 genomes]
rs35159488	0.83[EUR][1000 genomes]
rs35249105	0.95[EUR][1000 genomes]
rs35676267	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35764187	0.94[EUR][1000 genomes]
rs36079122	0.91[EUR][1000 genomes]
rs3809117	0.85[EUR][1000 genomes]
rs3892367	0.90[EUR][1000 genomes]
rs4758653	0.86[EUR][1000 genomes]
rs4758654	0.84[EUR][1000 genomes]
rs4758685	0.86[EUR][1000 genomes]
rs4758686	0.86[EUR][1000 genomes]
rs4758687	0.86[EUR][1000 genomes]
rs4758688	0.82[EUR][1000 genomes]
rs4758690	0.88[EUR][1000 genomes]
rs4758691	0.89[EUR][1000 genomes]
rs56072019	0.80[EUR][1000 genomes]
rs61952902	0.94[EUR][1000 genomes]
rs61952904	0.95[EUR][1000 genomes]
rs61952920	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61952923	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6489238	0.87[EUR][1000 genomes]
rs6489242	0.88[EUR][1000 genomes]
rs6489244	0.88[EUR][1000 genomes]
rs7137049	0.84[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	0.86[EUR][1000 genomes]
rs7485447	0.88[EUR][1000 genomes]
rs7486198	0.88[EUR][1000 genomes]
rs7488268	0.86[EUR][1000 genomes]
rs7488393	0.88[EUR][1000 genomes]
rs7488857	0.86[EUR][1000 genomes]
rs7953704	0.86[EUR][1000 genomes]
rs7955571	0.86[EUR][1000 genomes]
rs7955575	0.86[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:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122516000-122521000	Flanking Active TSS	Primary hematopoietic stem cells	blood
2	chr12:122516600-122520800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
3	chr12:122517000-122520800	Flanking Active TSS	Adipose Nuclei	Adipose
4	chr12:122517000-122521200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr12:122517000-122521400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
6	chr12:122517000-122521400	Flanking Active TSS	GM12878-XiMat	blood
7	chr12:122517000-122521800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr12:122517200-122521000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
9	chr12:122517400-122521000	Flanking Active TSS	Fetal Thymus	thymus
10	chr12:122517400-122521200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
11	chr12:122517600-122521200	Flanking Active TSS	HUVEC	blood vessel
12	chr12:122517600-122521200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
13	chr12:122517800-122520600	Transcr. at gene 5' and 3'	Fetal Stomach	stomach
14	chr12:122518000-122520600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
15	chr12:122518000-122520800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
16	chr12:122518000-122521200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
17	chr12:122518200-122520800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr12:122518200-122521000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
19	chr12:122518200-122525200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr12:122518400-122522400	Transcr. at gene 5' and 3'	K562	blood
21	chr12:122518600-122520600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr12:122518600-122520800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr12:122518600-122521000	Flanking Active TSS	Primary T cells from cord blood	blood
24	chr12:122518600-122529200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr12:122518800-122520600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
26	chr12:122518800-122521600	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr12:122518800-122526400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr12:122519000-122520600	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr12:122519000-122520600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr12:122519000-122520600	Enhancers	Fetal Brain Male	brain
31	chr12:122519000-122520600	Flanking Active TSS	Fetal Intestine Large	intestine
32	chr12:122519000-122520800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr12:122519000-122520800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr12:122519000-122520800	Flanking Active TSS	Fetal Lung	lung
35	chr12:122519000-122520800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
36	chr12:122519000-122521000	Flanking Active TSS	Stomach Smooth Muscle	stomach
37	chr12:122519000-122521200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
38	chr12:122519000-122521200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
39	chr12:122519000-122521200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
40	chr12:122519000-122521800	Weak transcription	Ovary	ovary
41	chr12:122519000-122521800	Enhancers	Spleen	Spleen
42	chr12:122519200-122520600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr12:122519200-122520600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr12:122519200-122520600	Flanking Active TSS	Right Atrium	heart
45	chr12:122519200-122520800	Enhancers	Brain Germinal Matrix	brain
46	chr12:122519200-122523000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr12:122519200-122523800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr12:122519200-122527800	Weak transcription	H9 Cell Line	embryonic stem cell
49	chr12:122519400-122520600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr12:122519400-122520600	Flanking Active TSS	Psoas Muscle	Psoas

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