Variant report

Variant	rs36079122
Chromosome Location	chr12:122504220-122504221
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:122504053-122504240	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:122503010..122504753-chr12:122599656..122601738,3	K562	blood:
2	chr12:122502788..122505256-chr12:122580123..122582296,2	K562	blood:
3	chr12:122502325..122504629-chr12:122884627..122886356,2	K562	blood:
4	chr12:122499171..122504349-chr12:122514733..122520643,17	K562	blood:

Variant related genes	Relation type
ENSG00000256546	TF binding region
ENSG00000175727	Chromatin interaction

Extended variants
information (count: 95 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:90)

rs_ID	r²[population]
rs10744335	0.81[EUR][1000 genomes]
rs10770189	0.81[EUR][1000 genomes]
rs10773037	0.89[EUR][1000 genomes]
rs11057184	0.89[EUR][1000 genomes]
rs11057654	0.89[EUR][1000 genomes]
rs11057905	0.82[EUR][1000 genomes]
rs11059094	0.89[EUR][1000 genomes]
rs11060477	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11061156	0.85[EUR][1000 genomes]
rs11608788	0.89[EUR][1000 genomes]
rs11608792	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11609875	0.88[EUR][1000 genomes]
rs11835818	0.86[EUR][1000 genomes]
rs12366611	0.89[EUR][1000 genomes]
rs12812519	0.82[EUR][1000 genomes]
rs1316787	0.80[EUR][1000 genomes]
rs1976859	0.84[EUR][1000 genomes]
rs2280573	0.83[EUR][1000 genomes]
rs2280574	0.84[EUR][1000 genomes]
rs28385906	0.89[EUR][1000 genomes]
rs28401575	0.90[EUR][1000 genomes]
rs28410367	0.85[EUR][1000 genomes]
rs28414202	0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs28421373	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs28430881	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs28450064	0.88[EUR][1000 genomes]
rs28453771	0.87[EUR][1000 genomes]
rs28461580	0.89[EUR][1000 genomes]
rs28464252	0.89[EUR][1000 genomes]
rs28478366	0.89[EUR][1000 genomes]
rs28478717	0.90[EUR][1000 genomes]
rs28498002	0.89[EUR][1000 genomes]
rs28498376	0.89[EUR][1000 genomes]
rs28503672	0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs28506952	0.89[EUR][1000 genomes]
rs28517281	0.90[EUR][1000 genomes]
rs28529535	0.89[EUR][1000 genomes]
rs28530689	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28545660	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs28548845	0.89[EUR][1000 genomes]
rs28569273	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs28580546	0.85[EUR][1000 genomes]
rs28585613	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs28591322	0.90[EUR][1000 genomes]
rs28605425	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs28607028	0.90[EUR][1000 genomes]
rs28613772	0.86[EUR][1000 genomes]
rs28626850	0.89[EUR][1000 genomes]
rs28629903	0.87[EUR][1000 genomes]
rs28631172	0.87[EUR][1000 genomes]
rs28639626	0.89[EUR][1000 genomes]
rs28642975	0.88[EUR][1000 genomes]
rs28649184	0.89[EUR][1000 genomes]
rs28652632	0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs28683032	0.89[EUR][1000 genomes]
rs28691281	0.85[EUR][1000 genomes]
rs28699616	0.90[EUR][1000 genomes]
rs28737311	0.90[EUR][1000 genomes]
rs28739522	0.89[EUR][1000 genomes]
rs28759327	0.86[EUR][1000 genomes]
rs34047484	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34123446	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34532891	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34739240	0.80[EUR][1000 genomes]
rs34741056	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34974633	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35159488	0.81[EUR][1000 genomes]
rs35249105	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35676267	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35764187	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3892367	0.84[EUR][1000 genomes]
rs4758686	0.81[AMR][1000 genomes]
rs4758690	0.82[EUR][1000 genomes]
rs4758691	0.83[EUR][1000 genomes]
rs61952902	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61952904	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61952920	0.91[EUR][1000 genomes]
rs61952922	0.91[EUR][1000 genomes]
rs61952923	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6489238	0.81[EUR][1000 genomes]
rs6489242	0.81[EUR][1000 genomes]
rs6489244	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7137049	0.84[EUR][1000 genomes]
rs7312210	0.81[AMR][1000 genomes]
rs73217796	0.82[EUR][1000 genomes]
rs7484733	0.82[EUR][1000 genomes]
rs7485380	0.82[AMR][1000 genomes]
rs7485447	0.82[EUR][1000 genomes]
rs7486198	0.82[EUR][1000 genomes]
rs7488393	0.81[AMR][1000 genomes];0.82[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:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122472000-122507200	Weak transcription	Fetal Brain Male	brain
2	chr12:122492600-122505600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr12:122500000-122504600	Enhancers	Stomach Mucosa	stomach
4	chr12:122500200-122506000	Weak transcription	Dnd41	blood
5	chr12:122500800-122505000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr12:122500800-122507800	Enhancers	Primary B cells from peripheral blood	blood
7	chr12:122500800-122510000	Weak transcription	Brain Germinal Matrix	brain
8	chr12:122501400-122505600	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr12:122501600-122505400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr12:122501600-122505600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr12:122501600-122505600	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr12:122501600-122505600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr12:122501600-122509800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr12:122501800-122504800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr12:122501800-122505800	Weak transcription	Primary T cells from cord blood	blood
16	chr12:122502000-122505200	Weak transcription	Primary B cells from cord blood	blood
17	chr12:122502000-122505800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr12:122502200-122509800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr12:122502400-122505600	Weak transcription	Monocytes-CD14+_RO01746	blood
20	chr12:122502600-122505400	Weak transcription	Primary hematopoietic stem cells	blood
21	chr12:122502600-122505400	Weak transcription	Thymus	Thymus
22	chr12:122502600-122505600	Weak transcription	Primary monocytes fromperipheralblood	blood
23	chr12:122502600-122505800	Weak transcription	Small Intestine	intestine
24	chr12:122502600-122506000	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr12:122502600-122510200	Weak transcription	Psoas Muscle	Psoas
26	chr12:122502600-122516200	Weak transcription	Gastric	stomach
27	chr12:122503000-122504400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr12:122503000-122504400	Weak transcription	Fetal Thymus	thymus
29	chr12:122503000-122505600	Weak transcription	Primary neutrophils fromperipheralblood	blood
30	chr12:122503000-122510200	Weak transcription	Brain Angular Gyrus	brain
31	chr12:122503200-122504600	Genic enhancers	Fetal Stomach	stomach
32	chr12:122503200-122504800	Enhancers	Ovary	ovary
33	chr12:122503200-122504800	Enhancers	HepG2	liver
34	chr12:122503200-122505200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
35	chr12:122503200-122505400	Weak transcription	GM12878-XiMat	blood
36	chr12:122503200-122505800	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr12:122503200-122505800	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr12:122503200-122510000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr12:122503200-122510000	Weak transcription	Hela-S3	cervix
40	chr12:122503200-122510200	Weak transcription	Brain Hippocampus Middle	brain
41	chr12:122503200-122510200	Weak transcription	Brain Substantia Nigra	brain
42	chr12:122503400-122504400	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr12:122503400-122504400	Weak transcription	Duodenum Mucosa	Duodenum
44	chr12:122503400-122504400	Weak transcription	A549	lung
45	chr12:122503400-122504600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr12:122503400-122504600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr12:122503400-122504800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr12:122503400-122505600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr12:122503400-122505600	Weak transcription	Liver	Liver
50	chr12:122503400-122505600	Weak transcription	NHLF	lung

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