Variant report

Variant	rs563776606
Chromosome Location	chr12:122459209-122459210
allele	C/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	EP300	chr12:122459183-122460296	ECC-1	luminal epithelium:	n/a	chr12:122459768-122459784 chr12:122459759-122459775 chr12:122459807-122459816
2	SIN3A	chr12:122458805-122460090	H1-hESC	embryonic stem cell:	n/a	chr12:122459458-122459471 chr12:122459021-122459030
3	MXI1	chr12:122458987-122462622	IMR90	lung:	n/a	n/a
4	REST	chr12:122459181-122460759	H1-neurons	neurons:	n/a	n/a
5	NRF1	chr12:122459180-122460315	SK-N-SH	brain:	n/a	chr12:122459504-122459513 chr12:122459781-122459792 chr12:122459781-122459795 chr12:122459781-122459792 chr12:122459740-122459751 chr12:122459802-122459811 chr12:122459783-122459792
6	GATA3	chr12:122458621-122459227	MCF-7	breast:	n/a	n/a
7	ZBTB7A	chr12:122459189-122460157	ECC-1	luminal epithelium:	n/a	n/a
8	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
9	MXI1	chr12:122458857-122462827	SK-N-SH	brain:	n/a	n/a
10	ZNF263	chr12:122459036-122459369	HEK293-T-REx	kidney:	n/a	n/a
11	ZBTB7A	chr12:122459170-122459808	ECC-1	luminal epithelium:	n/a	n/a
12	TCF12	chr12:122459148-122460142	A549	lung:	n/a	chr12:122459469-122459479
13	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
14	POLR2A	chr12:122458528-122460103	Raji	blood:	n/a	n/a
15	MAX	chr12:122459022-122459599	A549	lung:	n/a	chr12:122459589-122459599
16	ZBTB7A	chr12:122459189-122459879	K562	blood:	n/a	n/a
17	MAX	chr12:122459129-122460156	SK-N-SH	brain:	n/a	chr12:122459589-122459599
18	HDAC2	chr12:122458669-122459708	MCF-7	breast:	n/a	n/a
19	MAX	chr12:122458665-122459682	MCF-7	breast:	n/a	chr12:122459589-122459599

No.	Distal block	Cell Line	Cell type
1	chr12:122457603..122461416-chr12:122608714..122613817,5	MCF-7	breast:
2	chr12:122237430..122243628-chr12:122458689..122463112,11	MCF-7	breast:
3	chr12:122356337..122361793-chr12:122458841..122462522,5	MCF-7	breast:
4	chr12:122370271..122373728-chr12:122458243..122461695,4	K562	blood:
5	chr12:122458897..122461646-chr12:122516392..122519046,3	MCF-7	breast:
6	chr12:122369123..122373485-chr12:122458454..122462950,5	K562	blood:
7	chr12:122458978..122460744-chr12:122667663..122669885,2	MCF-7	breast:
8	chr12:122236783..122240484-chr12:122457021..122461932,5	MCF-7	breast:
9	chr12:122325656..122327392-chr12:122459155..122461282,2	K562	blood:
10	chr12:122459025..122460608-chr12:122685513..122688221,2	K562	blood:
11	chr12:122354300..122356847-chr12:122457161..122460061,2	K562	blood:
12	chr12:122457987..122461924-chr12:122515396..122519074,6	MCF-7	breast:
13	chr12:122455179..122457672-chr12:122458203..122460208,2	MCF-7	breast:
14	chr12:122353381..122358597-chr12:122457924..122463718,11	MCF-7	breast:
15	chr12:122459108..122461135-chr12:122685513..122688465,2	K562	blood:
16	chr12:122399815..122401399-chr12:122459120..122461080,2	MCF-7	breast:

Variant related genes	Relation type
BCL7A	TF binding region
ENSG00000255856	TF binding region
ENSG00000110987	Chromatin interaction
ENSG00000139725	Chromatin interaction
ENSG00000176383	Chromatin interaction
ENSG00000175727	Chromatin interaction
ENSG00000256950	Chromatin interaction
ENSG00000212694	Chromatin interaction
ENSG00000139718	Chromatin interaction
ENSG00000158023	Chromatin interaction
ENSG00000158113	Chromatin interaction
ENSG00000110801	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

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	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122458400-122459400	Flanking Active TSS	Dnd41	blood
2	chr12:122458600-122459400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
3	chr12:122458600-122459400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr12:122458600-122459400	Flanking Active TSS	Fetal Thymus	thymus
5	chr12:122458600-122459400	Flanking Active TSS	NHEK	skin
6	chr12:122458600-122459600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
7	chr12:122458600-122459600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr12:122458600-122459600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr12:122458600-122459600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr12:122458800-122459400	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
11	chr12:122458800-122459400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
12	chr12:122458800-122459400	Flanking Active TSS	Primary B cells from peripheral blood	blood
13	chr12:122458800-122459400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
14	chr12:122458800-122459400	Flanking Active TSS	Brain Cingulate Gyrus	brain
15	chr12:122458800-122459400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
16	chr12:122458800-122459400	Enhancers	Esophagus	oesophagus
17	chr12:122458800-122459400	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
18	chr12:122458800-122459400	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
19	chr12:122458800-122459400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
20	chr12:122458800-122459400	Flanking Bivalent TSS/Enh	GM12878-XiMat	blood
21	chr12:122458800-122459400	Flanking Active TSS	HSMMtube	muscle
22	chr12:122458800-122459600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr12:122458800-122459600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr12:122458800-122459600	Flanking Active TSS	Stomach Smooth Muscle	stomach
25	chr12:122458800-122459800	Flanking Active TSS	Primary B cells from cord blood	blood
26	chr12:122458800-122461000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr12:122458800-122461200	Active TSS	A549	lung
28	chr12:122458800-122461800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
29	chr12:122459000-122459400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
30	chr12:122459000-122459400	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr12:122459000-122459400	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr12:122459000-122459400	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
33	chr12:122459000-122459400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
34	chr12:122459000-122459400	Flanking Active TSS	Primary T cells from cord blood	blood
35	chr12:122459000-122459400	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
36	chr12:122459000-122459400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
37	chr12:122459000-122459400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
38	chr12:122459000-122459400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
39	chr12:122459000-122459400	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
40	chr12:122459000-122459400	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
41	chr12:122459000-122459400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
42	chr12:122459000-122459400	Flanking Active TSS	Brain Angular Gyrus	brain
43	chr12:122459000-122459400	Flanking Active TSS	Brain Hippocampus Middle	brain
44	chr12:122459000-122459400	Flanking Active TSS	Brain Substantia Nigra	brain
45	chr12:122459000-122459400	Flanking Active TSS	Duodenum Mucosa	Duodenum
46	chr12:122459000-122459400	Flanking Active TSS	Fetal Heart	heart
47	chr12:122459000-122459400	Flanking Active TSS	Fetal Intestine Large	intestine
48	chr12:122459000-122459400	Flanking Active TSS	Fetal Lung	lung
49	chr12:122459000-122459400	Flanking Active TSS	Fetal Muscle Trunk	muscle
50	chr12:122459000-122459400	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach

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