Variant report

Variant	rs151259185
Chromosome Location	chr12:122459009-122459010
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	HA-E2F1	chr12:122458631-122459133	MCF-7	breast:	n/a	n/a
2	GATA3	chr12:122458724-122459039	MCF-7	breast:	n/a	n/a
3	POLR2A	chr12:122458981-122459049	H1-hESC	embryonic stem cell:	n/a	n/a
4	SIN3A	chr12:122458805-122460090	H1-hESC	embryonic stem cell:	n/a	chr12:122459458-122459471 chr12:122459021-122459030
5	MXI1	chr12:122458987-122462622	IMR90	lung:	n/a	n/a
6	GATA3	chr12:122458621-122459227	MCF-7	breast:	n/a	n/a
7	MXI1	chr12:122458857-122462827	SK-N-SH	brain:	n/a	n/a
8	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
9	POLR2A	chr12:122458528-122460103	Raji	blood:	n/a	n/a
10	HDAC2	chr12:122458669-122459708	MCF-7	breast:	n/a	n/a
11	NR2F2	chr12:122458637-122459206	MCF-7	breast:	n/a	n/a
12	MAX	chr12:122458665-122459682	MCF-7	breast:	n/a	chr12:122459589-122459599
13	MTA3	chr12:122458809-122459184	GM12878	blood:	n/a	n/a

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	chr12:122354300..122356847-chr12:122457161..122460061,2	K562	blood:
10	chr12:122457987..122461924-chr12:122515396..122519074,6	MCF-7	breast:
11	chr12:122455179..122457672-chr12:122458203..122460208,2	MCF-7	breast:
12	chr12:122353381..122358597-chr12:122457924..122463718,11	MCF-7	breast:

Variant related genes	Relation type
ENSG00000255856	TF binding region
BCL7A	TF binding region
ENSG00000175727	Chromatin interaction
ENSG00000110987	Chromatin interaction
ENSG00000212694	Chromatin interaction
ENSG00000158113	Chromatin interaction
ENSG00000139725	Chromatin interaction
ENSG00000139718	Chromatin interaction
ENSG00000158023	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:122 , 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	chr12:122458600-122459200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:122458600-122459200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr12:122458600-122459200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
5	chr12:122458600-122459200	Flanking Bivalent TSS/Enh	HepG2	liver
6	chr12:122458600-122459400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
7	chr12:122458600-122459400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr12:122458600-122459400	Flanking Active TSS	Fetal Thymus	thymus
9	chr12:122458600-122459400	Flanking Active TSS	NHEK	skin
10	chr12:122458600-122459600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
11	chr12:122458600-122459600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr12:122458600-122459600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr12:122458600-122459600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr12:122458800-122459200	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr12:122458800-122459200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr12:122458800-122459200	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr12:122458800-122459200	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
18	chr12:122458800-122459200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr12:122458800-122459200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
20	chr12:122458800-122459200	Enhancers	Primary T killer memory cells from peripheral blood	blood
21	chr12:122458800-122459200	Enhancers	Liver	Liver
22	chr12:122458800-122459200	Flanking Active TSS	Brain Anterior Caudate	brain
23	chr12:122458800-122459200	Flanking Active TSS	Fetal Brain Female	brain
24	chr12:122458800-122459200	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
25	chr12:122458800-122459200	Bivalent Enhancer	Placenta	Placenta
26	chr12:122458800-122459200	Enhancers	Lung	lung
27	chr12:122458800-122459200	Enhancers	Placenta Amnion	Placenta Amnion
28	chr12:122458800-122459200	Flanking Active TSS	Right Ventricle	heart
29	chr12:122458800-122459200	Bivalent Enhancer	Stomach Mucosa	stomach
30	chr12:122458800-122459200	Enhancers	Spleen	Spleen
31	chr12:122458800-122459200	Flanking Active TSS	NHLF	lung
32	chr12:122458800-122459400	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
33	chr12:122458800-122459400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
34	chr12:122458800-122459400	Flanking Active TSS	Primary B cells from peripheral blood	blood
35	chr12:122458800-122459400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
36	chr12:122458800-122459400	Flanking Active TSS	Brain Cingulate Gyrus	brain
37	chr12:122458800-122459400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
38	chr12:122458800-122459400	Enhancers	Esophagus	oesophagus
39	chr12:122458800-122459400	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
40	chr12:122458800-122459400	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
41	chr12:122458800-122459400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
42	chr12:122458800-122459400	Flanking Bivalent TSS/Enh	GM12878-XiMat	blood
43	chr12:122458800-122459400	Flanking Active TSS	HSMMtube	muscle
44	chr12:122458800-122459600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr12:122458800-122459600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr12:122458800-122459600	Flanking Active TSS	Stomach Smooth Muscle	stomach
47	chr12:122458800-122459800	Flanking Active TSS	Primary B cells from cord blood	blood
48	chr12:122458800-122461000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr12:122458800-122461200	Active TSS	A549	lung
50	chr12:122458800-122461800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell

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