Variant report

Variant	rs561559132
Chromosome Location	chr12:50100780-50100781
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	PML	chr12:50100681-50101899	GM12878	blood:	n/a	n/a
2	POLR2A	chr12:50099264-50101397	HUVEC	blood vessel:	n/a	n/a
3	YY1	chr12:50100759-50101660	GM12878	blood:	n/a	chr12:50101407-50101421 chr12:50101556-50101567 chr12:50101378-50101392 chr12:50101114-50101128 chr12:50101120-50101129 chr12:50101416-50101430
4	POLR2A	chr12:50096226-50101443	GM12878	blood:	n/a	n/a
5	TBP	chr12:50100434-50101646	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr12:50100770-50101263	GM12891	blood:	n/a	n/a
7	POLR2A	chr12:50098513-50101410	GM12892	blood:	n/a	n/a
8	POLR2A	chr12:50100740-50101688	H1-neurons	neurons:	n/a	n/a
9	POLR2A	chr12:50100764-50101513	K562	blood:	n/a	n/a
10	POLR2A	chr12:50099022-50101605	HUVEC	blood vessel:	n/a	n/a
11	POLR2A	chr12:50098607-50101521	GM18505	blood:	n/a	n/a
12	SMARCB1	chr12:50100777-50101638	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr12:50100240-50101528	GM19193	blood:	n/a	n/a
14	HMGN3	chr12:50100745-50101602	K562	blood:	n/a	n/a
15	RAD21	chr12:50099732-50101933	SK-N-SH	brain:	n/a	n/a
16	MAX	chr12:50100743-50101926	A549	lung:	n/a	n/a
17	POLR2A	chr12:50099087-50101652	IMR90	lung:	n/a	n/a
18	POLR2A	chr12:50100598-50101546	GM18951	blood:	n/a	n/a
19	UBTF	chr12:50100375-50101478	K562	blood:	n/a	n/a
20	HCFC1	chr12:50100722-50101909	Hela-S3	cervix:	n/a	n/a
21	POLR2A	chr12:50100744-50101251	GM12891	blood:	n/a	n/a
22	POLR2A	chr12:50100633-50101631	H1-neurons	neurons:	n/a	n/a
23	POLR2A	chr12:50100026-50101500	GM12892	blood:	n/a	n/a
24	POLR2A	chr12:50100754-50101563	ECC-1	luminal epithelium:	n/a	n/a
25	POLR2A	chr12:50100359-50101590	HUVEC	blood vessel:	n/a	n/a
26	POLR2A	chr12:50100029-50101550	HUVEC	blood vessel:	n/a	n/a
27	JUN	chr12:50100773-50102161	K562	blood:	n/a	chr12:50101381-50101390 chr12:50101452-50101461
28	TAF1	chr12:50100684-50101522	H1-hESC	embryonic stem cell:	n/a	n/a
29	E2F6	chr12:50100638-50101929	A549	lung:	n/a	chr12:50101123-50101132 chr12:50101375-50101385 chr12:50101380-50101389 chr12:50101463-50101474
30	POLR2A	chr12:50100726-50101268	GM12892	blood:	n/a	n/a
31	SIN3A	chr12:50099979-50101643	H1-hESC	embryonic stem cell:	n/a	chr12:50100658-50100671 chr12:50101154-50101165
32	POLR2A	chr12:50100224-50101456	GM12878	blood:	n/a	n/a
33	POLR2A	chr12:50098795-50101520	GM19099	blood:	n/a	n/a
34	ZBTB7A	chr12:50100699-50101634	K562	blood:	n/a	chr12:50100970-50100978 chr12:50101499-50101508
35	MAX	chr12:50100741-50101969	A549	lung:	n/a	n/a
36	POLR2A	chr12:50100223-50100786	U87	brain:	n/a	n/a
37	POLR2A	chr12:50100589-50100932	H1-hESC	embryonic stem cell:	n/a	n/a
38	MXI1	chr12:50099184-50101785	SK-N-SH	brain:	n/a	n/a
39	POLR2A	chr12:50100750-50101268	GM12891	blood:	n/a	n/a
40	POLR2A	chr12:50100135-50101694	SK-N-MC	brain:	n/a	n/a
41	POLR2A	chr12:50098264-50101331	GM12878	blood:	n/a	n/a
42	POLR2A	chr12:50099052-50101471	GM12878	blood:	n/a	n/a
43	CTCF	chr12:50100746-50102061	A549	lung:	n/a	chr12:50101498-50101516 chr12:50101115-50101128
44	MAZ	chr12:50100303-50101728	K562	blood:	n/a	n/a
45	POLR2A	chr12:50100188-50101439	GM12878	blood:	n/a	n/a
46	REST	chr12:50100103-50101904	H1-neurons	neurons:	n/a	chr12:50100658-50100671 chr12:50101040-50101053 chr12:50100545-50100563
47	POLR2A	chr12:50100293-50101506	H1-hESC	embryonic stem cell:	n/a	n/a
48	UBTF	chr12:50100100-50101585	K562	blood:	n/a	n/a
49	MAZ	chr12:50099040-50101801	IMR90	lung:	n/a	chr12:50099481-50099491
50	ZBTB7A	chr12:50100258-50101780	ECC-1	luminal epithelium:	n/a	chr12:50100970-50100978 chr12:50101499-50101508

No.	Distal block	Cell Line	Cell type
1	chr12:50097894..50103527-chr12:50133840..50136991,8	K562	blood:
2	chr12:50097260..50102816-chr12:50134110..50137683,7	MCF-7	breast:
3	chr12:50035942..50038224-chr12:50100136..50103040,3	MCF-7	breast:
4	chr12:50096479..50103459-chr12:50133671..50138995,13	K562	blood:
5	chr12:50100220..50104044-chr12:50234202..50236972,3	K562	blood:
6	chr12:50034899..50039875-chr12:50099580..50104040,10	MCF-7	breast:
7	chr12:50099890..50103139-chr12:50133844..50137712,5	MCF-7	breast:
8	chr12:50015541..50018481-chr12:50099736..50102606,3	MCF-7	breast:
9	chr12:50030686..50032288-chr12:50100112..50102042,2	MCF-7	breast:
10	chr12:50015702..50019275-chr12:50098468..50101444,3	MCF-7	breast:
11	chr12:50100712..50101488-chrX:47004245..47004840,2	Hela-S3	cervix:
12	chr12:50099618..50102364-chr12:50142236..50145462,3	K562	blood:
13	chr12:50035440..50045362-chr12:50096806..50104789,13	K562	blood:
14	chr12:50033388..50039946-chr12:50098324..50104633,12	K562	blood:
15	chr12:50015348..50017930-chr12:50100590..50103903,3	K562	blood:
16	chr12:50092701..50095008-chr12:50097299..50100800,3	K562	blood:

Variant related genes	Relation type
ENSG00000257570	TF binding region
TMBIM6	TF binding region
ENSG00000110844	Chromatin interaction
ENSG00000147123	Chromatin interaction
ENSG00000139644	Chromatin interaction
ENSG00000182872	Chromatin interaction
ENSG00000186666	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045327	chr12:49975040-50551375	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases
2	nsv541490	chr12:49975040-50551375	Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases
3	esv3356835	chr12:50100110-50102658	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50098800-50101600	Active TSS	Rectal Mucosa Donor 29	rectum
2	chr12:50099000-50101400	Active TSS	Left Ventricle	heart
3	chr12:50099000-50101600	Active TSS	Fetal Kidney	kidney
4	chr12:50099200-50100800	Flanking Active TSS	Primary B cells from cord blood	blood
5	chr12:50099200-50101000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr12:50099200-50101400	Active TSS	Rectal Mucosa Donor 31	rectum
7	chr12:50099400-50101200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
8	chr12:50099400-50101200	Bivalent/Poised TSS	Fetal Intestine Small	intestine
9	chr12:50099400-50101600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr12:50099600-50100800	Bivalent/Poised TSS	Colonic Mucosa	Colon
11	chr12:50099600-50101000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
12	chr12:50099600-50101200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
13	chr12:50099600-50101200	Flanking Active TSS	Primary hematopoietic stem cells	blood
14	chr12:50099600-50101200	Bivalent/Poised TSS	Fetal Intestine Large	intestine
15	chr12:50099600-50101200	Active TSS	Lung	lung
16	chr12:50099600-50101400	Active TSS	Ovary	ovary
17	chr12:50099600-50101400	Active TSS	Pancreas	Pancrea
18	chr12:50099600-50101400	Active TSS	Right Atrium	heart
19	chr12:50099600-50101400	Active TSS	NHLF	lung
20	chr12:50099600-50101600	Active TSS	Liver	Liver
21	chr12:50099600-50101600	Active TSS	Brain Anterior Caudate	brain
22	chr12:50099600-50101600	Active TSS	GM12878-XiMat	blood
23	chr12:50099600-50101800	Active TSS	HSMM	muscle
24	chr12:50099800-50100800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr12:50099800-50101400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr12:50099800-50101400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr12:50099800-50101400	Active TSS	Fetal Brain Male	brain
28	chr12:50099800-50101400	Active TSS	Right Ventricle	heart
29	chr12:50099800-50101400	Active TSS	Skeletal Muscle Female	skeletal muscle
30	chr12:50099800-50101600	Active TSS	ES-I3 Cell Line	embryonic stem cell
31	chr12:50099800-50101600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr12:50099800-50101600	Active TSS	Adipose Nuclei	Adipose
33	chr12:50099800-50101600	Active TSS	HSMMtube	muscle
34	chr12:50100000-50101000	Active TSS	Fetal Lung	lung
35	chr12:50100000-50101200	Active TSS	Brain Substantia Nigra	brain
36	chr12:50100000-50101200	Flanking Active TSS	Placenta	Placenta
37	chr12:50100000-50101200	Active TSS	HUVEC	blood vessel
38	chr12:50100000-50101400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr12:50100000-50101600	Active TSS	H1 Cell Line	embryonic stem cell
40	chr12:50100000-50101600	Active TSS	HUES64 Cell Line	embryonic stem cell
41	chr12:50100000-50101600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr12:50100000-50101600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr12:50100000-50101600	Active TSS	Breast Myoepithelial Primary Cells	Breast
44	chr12:50100000-50101600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr12:50100000-50101600	Active TSS	Brain Cingulate Gyrus	brain
46	chr12:50100000-50101600	Active TSS	Brain Hippocampus Middle	brain
47	chr12:50100000-50101600	Active TSS	Brain Inferior Temporal Lobe	brain
48	chr12:50100000-50101600	Active TSS	Duodenum Smooth Muscle	Duodenum
49	chr12:50100000-50101600	Active TSS	Rectal Smooth Muscle	rectum
50	chr12:50100000-50101600	Active TSS	NHDF-Ad	bronchial

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