Variant report

Variant	rs563376826
Chromosome Location	chr12:122460908-122460909
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	MYC	chr12:122460877-122462337	K562	blood:	n/a	chr12:122461435-122461444 chr12:122461436-122461443 chr12:122461434-122461445 chr12:122461433-122461446 chr12:122461435-122461445
2	SIN3AK20	chr12:122460780-122462191	MCF-7	breast:	n/a	n/a
3	CTCF	chr12:122460852-122460910	LNCaP	prostate:	n/a	n/a
4	POLR2A	chr12:122460733-122461974	MCF10A-Er-Src	breast:	n/a	n/a
5	MAX	chr12:122460795-122462062	HCT-116	colon:	n/a	chr12:122461435-122461444 chr12:122461436-122461443 chr12:122461434-122461445 chr12:122461433-122461446 chr12:122461435-122461445
6	ZBTB7A	chr12:122460609-122461430	ECC-1	luminal epithelium:	n/a	n/a
7	MAX	chr12:122460387-122462455	HepG2	liver:	n/a	chr12:122461435-122461444 chr12:122460774-122460783 chr12:122461436-122461443 chr12:122461434-122461445 chr12:122461433-122461446 chr12:122461435-122461445
8	MAX	chr12:122459688-122462184	A549	lung:	n/a	chr12:122461435-122461444 chr12:122460774-122460783 chr12:122461436-122461443 chr12:122461434-122461445 chr12:122461433-122461446 chr12:122461435-122461445
9	ELF1	chr12:122460581-122462215	GM12878	blood:	n/a	chr12:122461414-122461425
10	POLR2A	chr12:122459504-122462244	K562	blood:	n/a	n/a
11	MXI1	chr12:122458987-122462622	IMR90	lung:	n/a	n/a
12	FOXA1	chr12:122460704-122461692	HepG2	liver:	n/a	n/a
13	TAF1	chr12:122460744-122461023	SK-N-SH	brain:	n/a	n/a
14	CHD1	chr12:122460840-122461016	H1-hESC	embryonic stem cell:	n/a	n/a
15	MAX	chr12:122460227-122462026	ECC-1	luminal epithelium:	n/a	chr12:122461435-122461444 chr12:122460774-122460783 chr12:122461436-122461443 chr12:122461434-122461445 chr12:122461433-122461446 chr12:122461435-122461445
16	E2F6	chr12:122460787-122461675	H1-hESC	embryonic stem cell:	n/a	chr12:122460861-122460871
17	CCNT2	chr12:122459411-122461031	K562	blood:	n/a	n/a
18	SIN3A	chr12:122460344-122462087	H1-hESC	embryonic stem cell:	n/a	chr12:122461909-122461917 chr12:122461220-122461229
19	E2F6	chr12:122460283-122461854	A549	lung:	n/a	chr12:122460464-122460475 chr12:122460861-122460871
20	MAX	chr12:122460219-122462478	K562	blood:	n/a	chr12:122461435-122461444 chr12:122460774-122460783 chr12:122461436-122461443 chr12:122461434-122461445 chr12:122461433-122461446 chr12:122461435-122461445
21	POLR2A	chr12:122460287-122461762	HUVEC	blood vessel:	n/a	n/a
22	UBTF	chr12:122459774-122462155	K562	blood:	n/a	n/a
23	TCF12	chr12:122460784-122462564	A549	lung:	n/a	chr12:122461929-122461936 chr12:122461930-122461940
24	E2F6	chr12:122460731-122461121	A549	lung:	n/a	chr12:122460861-122460871
25	FOSL2	chr12:122460874-122461662	A549	lung:	n/a	n/a
26	POLR2A	chr12:122460562-122461212	K562	blood:	n/a	n/a
27	SMARCB1	chr12:122460724-122461469	Hela-S3	cervix:	n/a	n/a
28	FOXA2	chr12:122460634-122461905	A549	lung:	n/a	n/a
29	HEY1	chr12:122460596-122461978	K562	blood:	n/a	n/a
30	MAX	chr12:122459118-122462416	HepG2	liver:	n/a	chr12:122461435-122461444 chr12:122460774-122460783 chr12:122461436-122461443 chr12:122461434-122461445 chr12:122461433-122461446 chr12:122459589-122459599 chr12:122461435-122461445
31	POLR2A	chr12:122459526-122461378	H1-hESC	embryonic stem cell:	n/a	n/a
32	POLR2A	chr12:122460754-122462553	SK-N-SH	brain:	n/a	n/a
33	POLR2A	chr12:122459506-122462370	GM19193	blood:	n/a	n/a
34	MXI1	chr12:122458857-122462827	SK-N-SH	brain:	n/a	n/a
35	FOXA1	chr12:122460716-122460973	T-47D	breast:	n/a	n/a
36	POLR2A	chr12:122459218-122461455	H1-hESC	embryonic stem cell:	n/a	n/a
37	POLR2A	chr12:122460740-122461608	ECC-1	luminal epithelium:	n/a	n/a
38	SIN3AK20	chr12:122460736-122462159	PANC-1	pancreas:	n/a	n/a
39	MAX	chr12:122460786-122461796	H1-hESC	embryonic stem cell:	n/a	chr12:122461435-122461444 chr12:122461436-122461443 chr12:122461434-122461445 chr12:122461433-122461446 chr12:122461435-122461445
40	MAX	chr12:122458921-122462255	A549	lung:	n/a	chr12:122461435-122461444 chr12:122460774-122460783 chr12:122461436-122461443 chr12:122461434-122461445 chr12:122461433-122461446 chr12:122459589-122459599 chr12:122461435-122461445
41	ZBTB7A	chr12:122460562-122461670	ECC-1	luminal epithelium:	n/a	n/a
42	MAX	chr12:122460288-122462089	MCF-7	breast:	n/a	chr12:122461435-122461444 chr12:122460774-122460783 chr12:122461436-122461443 chr12:122461434-122461445 chr12:122461433-122461446 chr12:122461435-122461445
43	E2F6	chr12:122459590-122462199	K562	blood:	n/a	chr12:122460464-122460475 chr12:122459771-122459781 chr12:122460861-122460871 chr12:122459782-122459791
44	POLR2A	chr12:122460908-122461873	HepG2	liver:	n/a	n/a
45	UBTF	chr12:122459291-122462457	K562	blood:	n/a	n/a
46	FOXA2	chr12:122460470-122461844	A549	lung:	n/a	n/a
47	TAF1	chr12:122460215-122460985	H1-hESC	embryonic stem cell:	n/a	n/a
48	POLR2A	chr12:122460780-122461980	PANC-1	pancreas:	n/a	n/a
49	MAX	chr12:122460379-122462371	SK-N-SH	brain:	n/a	chr12:122461435-122461444 chr12:122460774-122460783 chr12:122461436-122461443 chr12:122461434-122461445 chr12:122461433-122461446 chr12:122461435-122461445
50	POLR2A	chr12:122460342-122463264	Raji	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:122234286..122236802-chr12:122459405..122461225,2	K562	blood:
2	chr12:122457603..122461416-chr12:122608714..122613817,5	MCF-7	breast:
3	chr12:122240859..122242424-chr12:122459366..122461446,2	K562	blood:
4	chr12:122240924..122242640-chr12:122459339..122461446,2	K562	blood:
5	chr12:122459612..122462299-chr12:122516387..122519300,2	K562	blood:
6	chr12:122459811..122462052-chr12:122500619..122502679,2	K562	blood:
7	chr12:122459459..122461695-chr12:122710698..122713171,3	MCF-7	breast:
8	chr12:122230934..122233822-chr12:122459500..122463009,3	MCF-7	breast:
9	chr12:122237430..122243628-chr12:122458689..122463112,11	MCF-7	breast:
10	chr12:122356337..122361793-chr12:122458841..122462522,5	MCF-7	breast:
11	chr12:122370271..122373728-chr12:122458243..122461695,4	K562	blood:
12	chr12:122295977..122297667-chr12:122459919..122461653,2	K562	blood:
13	chr12:122428522..122431508-chr12:122460147..122462626,2	MCF-7	breast:
14	chr12:122458897..122461646-chr12:122516392..122519046,3	MCF-7	breast:
15	chr12:122459975..122462130-chr12:122612185..122613777,2	MCF-7	breast:
16	chr12:122369123..122373485-chr12:122458454..122462950,5	K562	blood:
17	chr12:122355313..122357386-chr12:122460176..122462387,2	K562	blood:
18	chr12:122325420..122328140-chr12:122460188..122462460,4	MCF-7	breast:
19	chr12:122236783..122240484-chr12:122457021..122461932,5	MCF-7	breast:
20	chr12:122460578..122461397-chr21:47878363..47878963,2	Hela-S3	cervix:
21	chr12:122325656..122327392-chr12:122459155..122461282,2	K562	blood:
22	chr12:122459684..122462243-chr12:122749527..122751932,2	MCF-7	breast:
23	chr12:122457987..122461924-chr12:122515396..122519074,6	MCF-7	breast:
24	chr12:122459897..122461527-chr12:122480652..122483460,2	K562	blood:
25	chr12:122237036..122238620-chr12:122459729..122461311,2	K562	blood:
26	chr12:122460064..122462817-chr12:122499395..122500991,2	MCF-7	breast:
27	chr12:122459405..122462233-chr12:122501246..122503627,3	MCF-7	breast:
28	chr12:122460432..122462517-chr12:122503179..122505981,2	MCF-7	breast:
29	chr12:122353381..122358597-chr12:122457924..122463718,11	MCF-7	breast:
30	chr12:122459539..122463256-chr12:122498402..122502892,4	MCF-7	breast:
31	chr12:122235276..122236948-chr12:122459921..122462305,2	MCF-7	breast:
32	chr12:122459108..122461135-chr12:122685513..122688465,2	K562	blood:
33	chr12:122437989..122441020-chr12:122459413..122461657,5	MCF-7	breast:
34	chr12:122063733..122066437-chr12:122459262..122461186,2	MCF-7	breast:
35	chr12:122399815..122401399-chr12:122459120..122461080,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000255856	TF binding region
ENSG00000256861	Chromatin interaction
ENSG00000184047	Chromatin interaction
ENSG00000212694	Chromatin interaction
ENSG00000182500	Chromatin interaction
ENSG00000139725	Chromatin interaction
ENSG00000256950	Chromatin interaction
ENSG00000160305	Chromatin interaction
ENSG00000158023	Chromatin interaction
ENSG00000139718	Chromatin interaction
ENSG00000158104	Chromatin interaction
ENSG00000176383	Chromatin interaction
ENSG00000256546	Chromatin interaction
ENSG00000139719	Chromatin interaction
ENSG00000110801	Chromatin interaction
ENSG00000272849	Chromatin interaction
ENSG00000175727	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 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	esv3338715	chr12:122457569-122462467	Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
5	esv3388753	chr12:122458594-122461542	Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases
6	esv3425442	chr12:122459394-122461942	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases
7	esv3406676	chr12:122459519-122461517	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122458800-122461000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr12:122458800-122461200	Active TSS	A549	lung
3	chr12:122458800-122461800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
4	chr12:122459000-122461000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr12:122459000-122461000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr12:122459000-122461800	Active TSS	Psoas Muscle	Psoas
7	chr12:122459000-122461800	Active TSS	Thymus	Thymus
8	chr12:122459000-122462000	Active TSS	Fetal Kidney	kidney
9	chr12:122459200-122461000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr12:122459200-122461000	Active TSS	NHLF	lung
11	chr12:122459200-122461200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr12:122459200-122461200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr12:122459200-122461200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr12:122459200-122461200	Active TSS	Brain Anterior Caudate	brain
15	chr12:122459200-122461600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr12:122459200-122461600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr12:122459200-122461600	Active TSS	Lung	lung
18	chr12:122459200-122461600	Active TSS	Right Ventricle	heart
19	chr12:122459200-122461800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr12:122459200-122461800	Active TSS	Fetal Brain Female	brain
21	chr12:122459200-122462000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr12:122459200-122462000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
23	chr12:122459200-122462000	Active TSS	Colon Smooth Muscle	Colon
24	chr12:122459200-122462000	Active TSS	Ovary	ovary
25	chr12:122459200-122462400	Active TSS	Aorta	Aorta
26	chr12:122459200-122462400	Active TSS	Pancreatic Islets	Pancreatic Islet
27	chr12:122459400-122461000	Active TSS	HUES48 Cell Line	embryonic stem cell
28	chr12:122459400-122461000	Active TSS	HUES6 Cell Line	embryonic stem cell
29	chr12:122459400-122461000	Active TSS	iPS-15b Cell Line	embryonic stem cell
30	chr12:122459400-122461000	Active TSS	Primary B cells from peripheral blood	blood
31	chr12:122459400-122461000	Active TSS	Primary T killer naive cells fromperipheralblood	blood
32	chr12:122459400-122461000	Active TSS	Duodenum Mucosa	Duodenum
33	chr12:122459400-122461000	Active TSS	Spleen	Spleen
34	chr12:122459400-122461000	Active TSS	Dnd41	blood
35	chr12:122459400-122461000	Active TSS	Hela-S3	cervix
36	chr12:122459400-122461000	Active TSS	K562	blood
37	chr12:122459400-122461200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr12:122459400-122461200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr12:122459400-122461200	Active TSS	Primary T helper naive cells from peripheral blood	blood
40	chr12:122459400-122461200	Active TSS	Primary T helper naive cells fromperipheralblood	blood
41	chr12:122459400-122461200	Active TSS	Liver	Liver
42	chr12:122459400-122461200	Active TSS	Brain Hippocampus Middle	brain
43	chr12:122459400-122461200	Active TSS	Esophagus	oesophagus
44	chr12:122459400-122461200	Active TSS	Fetal Intestine Large	intestine
45	chr12:122459400-122461200	Active TSS	Fetal Intestine Small	intestine
46	chr12:122459400-122461200	Active TSS	Fetal Stomach	stomach
47	chr12:122459400-122461200	Active TSS	Fetal Thymus	thymus
48	chr12:122459400-122461200	Active TSS	Skeletal Muscle Female	skeletal muscle
49	chr12:122459400-122461200	Active TSS	Small Intestine	intestine
50	chr12:122459400-122461200	Active TSS	NHDF-Ad	bronchial

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