Variant report

Variant	rs565930797
Chromosome Location	chr12:122459468-122459469
allele	A/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	FOXP2	chr12:122459437-122460060	PFSK-1	brain:	n/a	n/a
2	EP300	chr12:122459183-122460296	ECC-1	luminal epithelium:	n/a	chr12:122459768-122459784 chr12:122459759-122459775 chr12:122459807-122459816
3	SIN3AK20	chr12:122459228-122459507	SK-N-SH	brain:	n/a	n/a
4	SIN3AK20	chr12:122459397-122460204	PANC-1	pancreas:	n/a	n/a
5	MYC	chr12:122459409-122459473	K562	blood:	n/a	n/a
6	SIN3A	chr12:122458805-122460090	H1-hESC	embryonic stem cell:	n/a	chr12:122459458-122459471 chr12:122459021-122459030
7	MXI1	chr12:122458987-122462622	IMR90	lung:	n/a	n/a
8	POLR2A	chr12:122459444-122460585	ECC-1	luminal epithelium:	n/a	n/a
9	POLR2A	chr12:122459318-122460275	H1-neurons	neurons:	n/a	n/a
10	CCNT2	chr12:122459411-122461031	K562	blood:	n/a	n/a
11	SMARCB1	chr12:122459312-122460079	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr12:122459437-122460650	A549	lung:	n/a	n/a
13	MAX	chr12:122459335-122460173	K562	blood:	n/a	chr12:122459589-122459599
14	REST	chr12:122459181-122460759	H1-neurons	neurons:	n/a	n/a
15	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
16	ZBTB7A	chr12:122459189-122460157	ECC-1	luminal epithelium:	n/a	n/a
17	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
18	MXI1	chr12:122458857-122462827	SK-N-SH	brain:	n/a	n/a
19	POLR2A	chr12:122459325-122460721	K562	blood:	n/a	n/a
20	ZBTB7A	chr12:122459170-122459808	ECC-1	luminal epithelium:	n/a	n/a
21	POLR2A	chr12:122459218-122461455	H1-hESC	embryonic stem cell:	n/a	n/a
22	TCF12	chr12:122459148-122460142	A549	lung:	n/a	chr12:122459469-122459479
23	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
24	POLR2A	chr12:122458528-122460103	Raji	blood:	n/a	n/a
25	MAX	chr12:122459022-122459599	A549	lung:	n/a	chr12:122459589-122459599
26	NR2F2	chr12:122459315-122460113	MCF-7	breast:	n/a	n/a
27	ZBTB7A	chr12:122459189-122459879	K562	blood:	n/a	n/a
28	MAX	chr12:122459129-122460156	SK-N-SH	brain:	n/a	chr12:122459589-122459599
29	HDAC2	chr12:122458669-122459708	MCF-7	breast:	n/a	n/a
30	UBTF	chr12:122459291-122462457	K562	blood:	n/a	n/a
31	HMGN3	chr12:122459406-122461483	K562	blood:	n/a	n/a
32	MAX	chr12:122458665-122459682	MCF-7	breast:	n/a	chr12:122459589-122459599
33	CTCF	chr12:122459360-122459510	GM12870	blood:	n/a	n/a
34	ELF1	chr12:122459320-122460069	GM12878	blood:	n/a	chr12:122459443-122459452 chr12:122459607-122459619 chr12:122459439-122459451

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	chr12:122459459..122461695-chr12:122710698..122713171,3	MCF-7	breast:
6	chr12:122237430..122243628-chr12:122458689..122463112,11	MCF-7	breast:
7	chr12:122356337..122361793-chr12:122458841..122462522,5	MCF-7	breast:
8	chr12:122370271..122373728-chr12:122458243..122461695,4	K562	blood:
9	chr12:122458897..122461646-chr12:122516392..122519046,3	MCF-7	breast:
10	chr12:122369123..122373485-chr12:122458454..122462950,5	K562	blood:
11	chr12:122458978..122460744-chr12:122667663..122669885,2	MCF-7	breast:
12	chr12:122236783..122240484-chr12:122457021..122461932,5	MCF-7	breast:
13	chr12:122325656..122327392-chr12:122459155..122461282,2	K562	blood:
14	chr12:122459025..122460608-chr12:122685513..122688221,2	K562	blood:
15	chr12:122354300..122356847-chr12:122457161..122460061,2	K562	blood:
16	chr12:122457987..122461924-chr12:122515396..122519074,6	MCF-7	breast:
17	chr12:122459405..122462233-chr12:122501246..122503627,3	MCF-7	breast:
18	chr12:122455179..122457672-chr12:122458203..122460208,2	MCF-7	breast:
19	chr12:122353381..122358597-chr12:122457924..122463718,11	MCF-7	breast:
20	chr12:122459108..122461135-chr12:122685513..122688465,2	K562	blood:
21	chr12:122437989..122441020-chr12:122459413..122461657,5	MCF-7	breast:
22	chr12:122063733..122066437-chr12:122459262..122461186,2	MCF-7	breast:
23	chr12:122399815..122401399-chr12:122459120..122461080,2	MCF-7	breast:

Variant related genes	Relation type
BCL7A	TF binding region
ENSG00000255856	TF binding region
ENSG00000182500	Chromatin interaction
ENSG00000184047	Chromatin interaction
ENSG00000256546	Chromatin interaction
ENSG00000176383	Chromatin interaction
ENSG00000256950	Chromatin interaction
ENSG00000110801	Chromatin interaction
ENSG00000110987	Chromatin interaction
ENSG00000272849	Chromatin interaction
ENSG00000139725	Chromatin interaction
ENSG00000175727	Chromatin interaction
ENSG00000158113	Chromatin interaction
ENSG00000212694	Chromatin interaction
ENSG00000158023	Chromatin interaction
ENSG00000139718	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122458600-122459600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
2	chr12:122458600-122459600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr12:122458600-122459600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr12:122458600-122459600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr12:122458800-122459600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr12:122458800-122459600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr12:122458800-122459600	Flanking Active TSS	Stomach Smooth Muscle	stomach
8	chr12:122458800-122459800	Flanking Active TSS	Primary B cells from cord blood	blood
9	chr12:122458800-122461000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr12:122458800-122461200	Active TSS	A549	lung
11	chr12:122458800-122461800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
12	chr12:122459000-122459600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr12:122459000-122459600	Flanking Active TSS	Primary hematopoietic stem cells	blood
14	chr12:122459000-122459600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
15	chr12:122459000-122459600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr12:122459000-122459600	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood
17	chr12:122459000-122459600	Flanking Active TSS	Adipose Nuclei	Adipose
18	chr12:122459000-122459600	Flanking Active TSS	Colonic Mucosa	Colon
19	chr12:122459000-122459600	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
20	chr12:122459000-122459600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
21	chr12:122459000-122459600	Flanking Active TSS	HMEC	breast
22	chr12:122459000-122459600	Flanking Active TSS	HUVEC	blood vessel
23	chr12:122459000-122459600	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
24	chr12:122459000-122459600	Flanking Active TSS	NH-A	brain
25	chr12:122459000-122459800	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
26	chr12:122459000-122460600	Bivalent/Poised TSS	Primary T regulatory cells fromperipheralblood	blood
27	chr12:122459000-122461000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr12:122459000-122461000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr12:122459000-122461800	Active TSS	Psoas Muscle	Psoas
30	chr12:122459000-122461800	Active TSS	Thymus	Thymus
31	chr12:122459000-122462000	Active TSS	Fetal Kidney	kidney
32	chr12:122459200-122459600	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr12:122459200-122459600	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
34	chr12:122459200-122459600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
35	chr12:122459200-122459600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr12:122459200-122459600	Active TSS	Primary T killer memory cells from peripheral blood	blood
37	chr12:122459200-122459600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr12:122459200-122459600	Flanking Active TSS	Brain Germinal Matrix	brain
39	chr12:122459200-122459600	Flanking Active TSS	Placenta Amnion	Placenta Amnion
40	chr12:122459200-122459600	Flanking Active TSS	Right Atrium	heart
41	chr12:122459200-122460000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
42	chr12:122459200-122460000	Active TSS	Fetal Brain Male	brain
43	chr12:122459200-122461000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr12:122459200-122461000	Active TSS	NHLF	lung
45	chr12:122459200-122461200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr12:122459200-122461200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr12:122459200-122461200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr12:122459200-122461200	Active TSS	Brain Anterior Caudate	brain
49	chr12:122459200-122461600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr12:122459200-122461600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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