Variant report

Variant	rs34974633
Chromosome Location	chr12:122503444-122503445
allele	A/G
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	CTCF	chr12:122501631-122503457	SK-N-SH	brain:	n/a	n/a
2	PBX3	chr12:122502596-122503609	SK-N-SH	brain:	n/a	n/a
3	JUN	chr12:122501885-122503544	K562	blood:	n/a	chr12:122503215-122503226 chr12:122502939-122502950
4	ZMIZ1	chr12:122503400-122503456	K562	blood:	n/a	n/a
5	TCF12	chr12:122503012-122503615	SK-N-SH	brain:	n/a	chr12:122503558-122503566
6	NR2F2	chr12:122500579-122503676	K562	blood:	n/a	n/a
7	EP300	chr12:122502761-122503535	SK-N-SH_RA	brain:	n/a	n/a
8	RXRA	chr12:122502726-122503661	SK-N-SH	brain:	n/a	chr12:122502975-122502984
9	POLR2A	chr12:122501900-122503605	K562	blood:	n/a	n/a
10	POLR2A	chr12:122502658-122503594	U87	brain:	n/a	n/a
11	RAD21	chr12:122503207-122503592	SK-N-SH_RA	brain:	n/a	n/a
12	FOSL2	chr12:122502650-122503565	SK-N-SH	brain:	n/a	chr12:122503215-122503226 chr12:122502939-122502950
13	CTCF	chr12:122503300-122503450	GM12872	blood:	n/a	n/a
14	POLR2A	chr12:122500801-122503592	K562	blood:	n/a	n/a
15	RAD21	chr12:122503249-122503469	K562	blood:	n/a	n/a
16	FOS	chr12:122502777-122503521	HUVEC	blood vessel:	n/a	chr12:122503215-122503226 chr12:122502939-122502950
17	POLR2A	chr12:122502652-122503557	U87	brain:	n/a	n/a
18	TEAD4	chr12:122501679-122503478	K562	blood:	n/a	n/a
19	HEY1	chr12:122501984-122503577	K562	blood:	n/a	n/a
20	NR2F2	chr12:122502476-122503524	K562	blood:	n/a	n/a
21	MAZ	chr12:122500595-122503584	IMR90	lung:	n/a	chr12:122502834-122502843 chr12:122501211-122501221 chr12:122503332-122503341
22	JUND	chr12:122501074-122503567	K562	blood:	n/a	chr12:122503215-122503226 chr12:122501405-122501413 chr12:122501406-122501417 chr12:122502939-122502950 chr12:122501403-122501415 chr12:122501405-122501412
23	ATF3	chr12:122503179-122503572	K562	blood:	n/a	n/a
24	TCF12	chr12:122501725-122503613	SK-N-SH	brain:	n/a	chr12:122503558-122503566
25	MAX	chr12:122501019-122503471	K562	blood:	n/a	chr12:122502834-122502843 chr12:122501211-122501221 chr12:122503332-122503341 chr12:122502164-122502174
26	PBX3	chr12:122502520-122503693	SK-N-SH	brain:	n/a	n/a
27	POLR2A	chr12:122500734-122503476	K562	blood:	n/a	n/a
28	CBX3	chr12:122501795-122503599	K562	blood:	n/a	n/a
29	POLR2A	chr12:122501662-122503579	K562	blood:	n/a	n/a
30	EP300	chr12:122503202-122503533	SK-N-SH_RA	brain:	n/a	n/a
31	CTCF	chr12:122503320-122503470	AG10803	skin:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:122503010..122504753-chr12:122599656..122601738,3	K562	blood:
2	chr12:122237524..122241320-chr12:122500575..122503777,5	K562	blood:
3	chr12:122459405..122462233-chr12:122501246..122503627,3	MCF-7	breast:
4	chr12:122237524..122241121-chr12:122501436..122503777,3	K562	blood:
5	chr12:122502788..122505256-chr12:122580123..122582296,2	K562	blood:
6	chr12:122502325..122504629-chr12:122884627..122886356,2	K562	blood:
7	chr12:122501321..122503552-chr12:122505833..122508072,2	K562	blood:
8	chr12:122499171..122504349-chr12:122514733..122520643,17	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-BCL7A-1	chr12:122503162-122503728	ENSG00000256546

Variant related genes	Relation type
ENSG00000256546	TF binding region
ENSG00000139725	Chromatin interaction
ENSG00000256546	Chromatin interaction
ENSG00000110987	Chromatin interaction
ENSG00000175727	Chromatin interaction
ENSG00000212694	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	0.81[EUR][1000 genomes]
rs1047813	0.83[EUR][1000 genomes]
rs10744177	0.83[EUR][1000 genomes]
rs10744335	0.85[EUR][1000 genomes]
rs10770189	0.84[EUR][1000 genomes]
rs10773037	0.93[EUR][1000 genomes]
rs10846525	0.81[EUR][1000 genomes]
rs11057184	0.93[EUR][1000 genomes]
rs11057654	0.92[EUR][1000 genomes]
rs11057905	0.86[EUR][1000 genomes]
rs11059094	0.92[EUR][1000 genomes]
rs11060477	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11061156	0.88[EUR][1000 genomes]
rs11061602	0.82[EUR][1000 genomes]
rs11608788	0.92[EUR][1000 genomes]
rs11608792	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11609875	0.92[EUR][1000 genomes]
rs11835818	0.89[EUR][1000 genomes]
rs12230227	0.81[EUR][1000 genomes]
rs12366611	0.93[EUR][1000 genomes]
rs12812519	0.86[EUR][1000 genomes]
rs1316787	0.82[EUR][1000 genomes]
rs1976859	0.88[EUR][1000 genomes]
rs2280573	0.87[EUR][1000 genomes]
rs2280574	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs28385906	0.92[EUR][1000 genomes]
rs28401575	0.93[EUR][1000 genomes]
rs28410367	0.89[EUR][1000 genomes]
rs28414202	0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs28421373	0.92[EUR][1000 genomes]
rs28430881	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs28450064	0.92[EUR][1000 genomes]
rs28453771	0.90[EUR][1000 genomes]
rs28461580	0.93[EUR][1000 genomes]
rs28464252	0.93[EUR][1000 genomes]
rs28478366	0.93[EUR][1000 genomes]
rs28478717	0.93[EUR][1000 genomes]
rs28498002	0.93[EUR][1000 genomes]
rs28498376	0.93[EUR][1000 genomes]
rs28503672	0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs28506952	0.92[EUR][1000 genomes]
rs28517281	0.93[EUR][1000 genomes]
rs28529535	0.93[EUR][1000 genomes]
rs28530689	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28545660	0.86[EUR][1000 genomes]
rs28548845	0.93[EUR][1000 genomes]
rs28569273	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs28580546	0.88[EUR][1000 genomes]
rs28585613	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs28591322	0.93[EUR][1000 genomes]
rs28605425	0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs28607028	0.93[EUR][1000 genomes]
rs28613772	0.90[EUR][1000 genomes]
rs28626850	0.93[EUR][1000 genomes]
rs28629903	0.90[EUR][1000 genomes]
rs28631172	0.91[EUR][1000 genomes]
rs28639626	0.93[EUR][1000 genomes]
rs28642975	0.90[EUR][1000 genomes]
rs28649184	0.93[EUR][1000 genomes]
rs28652632	0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs28683032	0.93[EUR][1000 genomes]
rs28691281	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs28699616	0.93[EUR][1000 genomes]
rs28737311	0.93[EUR][1000 genomes]
rs28739522	0.93[EUR][1000 genomes]
rs28759327	0.89[EUR][1000 genomes]
rs34047484	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34123446	0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34439774	0.80[EUR][1000 genomes]
rs34532891	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34739240	0.84[EUR][1000 genomes]
rs34741056	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35159488	0.84[EUR][1000 genomes]
rs35249105	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35676267	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35764187	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs36079122	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3809117	0.83[EUR][1000 genomes]
rs3892367	0.87[EUR][1000 genomes]
rs4758653	0.82[EUR][1000 genomes]
rs4758654	0.82[EUR][1000 genomes]
rs4758685	0.83[EUR][1000 genomes]
rs4758686	0.83[EUR][1000 genomes]
rs4758687	0.82[EUR][1000 genomes]
rs4758690	0.85[EUR][1000 genomes]
rs4758691	0.86[EUR][1000 genomes]
rs61952902	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61952904	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61952920	0.94[EUR][1000 genomes]
rs61952922	0.94[EUR][1000 genomes]
rs61952923	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6489238	0.84[EUR][1000 genomes]
rs6489242	0.85[EUR][1000 genomes]
rs6489244	0.85[EUR][1000 genomes]
rs7137049	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7312210	0.83[EUR][1000 genomes]
rs73217796	0.85[EUR][1000 genomes]
rs7484733	0.85[EUR][1000 genomes]
rs7485054	0.81[EUR][1000 genomes]
rs7485380	0.82[EUR][1000 genomes]
rs7485447	0.85[EUR][1000 genomes]
rs7486198	0.85[EUR][1000 genomes]
rs7488268	0.82[EUR][1000 genomes]
rs7488393	0.85[EUR][1000 genomes]
rs7488857	0.83[EUR][1000 genomes]
rs7953704	0.83[EUR][1000 genomes]
rs7955571	0.82[EUR][1000 genomes]
rs7955575	0.82[EUR][1000 genomes]
rs7962500	0.83[EUR][1000 genomes]
rs7964148	0.82[EUR][1000 genomes]
rs7967127	0.81[EUR][1000 genomes]
rs7975001	0.83[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:104 , 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	chr12:122500000-122503600	Enhancers	Right Ventricle	heart
4	chr12:122500000-122504600	Enhancers	Stomach Mucosa	stomach
5	chr12:122500200-122506000	Weak transcription	Dnd41	blood
6	chr12:122500400-122503600	Enhancers	Fetal Muscle Trunk	muscle
7	chr12:122500600-122503600	Enhancers	Left Ventricle	heart
8	chr12:122500600-122503600	Enhancers	Placenta Amnion	Placenta Amnion
9	chr12:122500600-122503600	Enhancers	Right Atrium	heart
10	chr12:122500800-122503600	Enhancers	Fetal Muscle Leg	muscle
11	chr12:122500800-122505000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr12:122500800-122507800	Enhancers	Primary B cells from peripheral blood	blood
13	chr12:122500800-122510000	Weak transcription	Brain Germinal Matrix	brain
14	chr12:122501000-122503600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr12:122501000-122503800	Weak transcription	Fetal Brain Female	brain
16	chr12:122501200-122504200	Enhancers	Fetal Heart	heart
17	chr12:122501400-122505600	Weak transcription	Primary T helper cells fromperipheralblood	blood
18	chr12:122501600-122503600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr12:122501600-122504200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr12:122501600-122505400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr12:122501600-122505600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr12:122501600-122505600	Weak transcription	Primary T helper cells PMA-I stimulated	--
23	chr12:122501600-122505600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr12:122501600-122509800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr12:122501800-122504800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr12:122501800-122505800	Weak transcription	Primary T cells from cord blood	blood
27	chr12:122502000-122503600	Genic enhancers	Fetal Intestine Small	intestine
28	chr12:122502000-122505200	Weak transcription	Primary B cells from cord blood	blood
29	chr12:122502000-122505800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr12:122502200-122503600	Flanking Active TSS	Rectal Smooth Muscle	rectum
31	chr12:122502200-122503600	Flanking Active TSS	K562	blood
32	chr12:122502200-122509800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr12:122502400-122503600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr12:122502400-122503600	Flanking Active TSS	Osteobl	bone
35	chr12:122502400-122505600	Weak transcription	Monocytes-CD14+_RO01746	blood
36	chr12:122502600-122503600	Enhancers	Fetal Lung	lung
37	chr12:122502600-122505400	Weak transcription	Primary hematopoietic stem cells	blood
38	chr12:122502600-122505400	Weak transcription	Thymus	Thymus
39	chr12:122502600-122505600	Weak transcription	Primary monocytes fromperipheralblood	blood
40	chr12:122502600-122505800	Weak transcription	Small Intestine	intestine
41	chr12:122502600-122506000	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr12:122502600-122510200	Weak transcription	Psoas Muscle	Psoas
43	chr12:122502600-122516200	Weak transcription	Gastric	stomach
44	chr12:122503000-122503600	Enhancers	Placenta	Placenta
45	chr12:122503000-122504400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr12:122503000-122504400	Weak transcription	Fetal Thymus	thymus
47	chr12:122503000-122505600	Weak transcription	Primary neutrophils fromperipheralblood	blood
48	chr12:122503000-122510200	Weak transcription	Brain Angular Gyrus	brain
49	chr12:122503200-122503600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr12:122503200-122503600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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