Variant report

Variant	rs57742919
Chromosome Location	chr12:122751982-122751983
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:12)
CpG islands
(count:61)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:12 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:122750565-122752045	U87	brain:	n/a	n/a
2	CEBPB	chr12:122751819-122752041	A549	lung:	n/a	chr12:122751963-122751974 chr12:122751965-122751976
3	MXI1	chr12:122749988-122752152	SK-N-SH	brain:	n/a	chr12:122751044-122751053 chr12:122751028-122751037
4	STAT3	chr12:122751895-122752032	MCF10A-Er-Src	breast:	n/a	chr12:122751965-122751973
5	CEBPB	chr12:122751842-122752010	HepG2	liver:	n/a	chr12:122751963-122751974 chr12:122751965-122751976
6	HCFC1	chr12:122750329-122751987	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr12:122750276-122752120	PANC-1	pancreas:	n/a	n/a
8	JUN	chr12:122750241-122752173	K562	blood:	n/a	n/a
9	SIN3AK20	chr12:122750449-122751996	HCT-116	colon:	n/a	n/a
10	CEBPB	chr12:122751908-122751990	K562	blood:	n/a	chr12:122751963-122751974 chr12:122751965-122751976
11	MTA3	chr12:122750225-122752042	GM12878	blood:	n/a	n/a
12	ZNF384	chr12:122750934-122752095	GM12878	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:122751933-122751983	NHBE	bronchial:	n/a
2	chr12:122751933-122751983	HRCEpiC	kidney:	n/a
3	chr12:122751933-122751983	H1-hESC	embryonic stem cell:	embryo
4	chr12:122751933-122751983	NT2-D1	testis:	n/a
5	chr12:122751933-122751983	AG09309	skin:	n/a
6	chr12:122751933-122751983	HCPEpiC	choroid plexus:	n/a
7	chr12:122751933-122751983	HCF	heart:	n/a
8	chr12:122751933-122751983	AG04450	lung:	fetal
9	chr12:122751933-122751983	Hepatocyte	liver:	n/a
10	chr12:122751933-122751983	HPAEpiC	pulmonary alveolar:	n/a
11	chr12:122751933-122751983	SK-N-SH	brain:	n/a
12	chr12:122751933-122751983	NHDF-neo	bronchial:	n/a
13	chr12:122751933-122751983	Caco-2	colon:	n/a
14	chr12:122751933-122751983	AG10803	skin:	n/a
15	chr12:122751933-122751983	MCF-7	breast:	n/a
16	chr12:122751933-122751983	ProgFib	skin:	n/a
17	chr12:122751933-122751983	HNPCEpiC	eye:	n/a
18	chr12:122751933-122751983	Hela-S3	cervix:	n/a
19	chr12:122751933-122751983	NH-A	brain:	n/a
20	chr12:122751933-122751983	IMR90	lung:	fetal
21	chr12:122751933-122751983	CMK	blood:	n/a
22	chr12:122751933-122751983	SK-N-MC	brain:	n/a
23	chr12:122751933-122751983	HCM	heart:	n/a
24	chr12:122751933-122751983	RPTEC	kidney:	n/a
25	chr12:122751933-122751983	Jurkat	blood:	n/a
26	chr12:122751933-122751983	HL-60	blood:	n/a
27	chr12:122751933-122751983	SKMC	muscle:	n/a
28	chr12:122751933-122751983	HEK293	kidney:	embryo
29	chr12:122751933-122751983	NB4	blood:	n/a
30	chr12:122751933-122751983	HEEpiC	esophagus:	n/a
31	chr12:122751933-122751983	GM06990	blood:	n/a
32	chr12:122751933-122751983	PrEC	prostate:	n/a
33	chr12:122751933-122751983	HIPEpiC	eye:	n/a
34	chr12:122751933-122751983	HMEC	breast:	n/a
35	chr12:122751933-122751983	GM19239	blood:	n/a
36	chr12:122751933-122751983	GM12892	blood:	n/a
37	chr12:122751933-122751983	A549	lung:	n/a
38	chr12:122751933-122751983	SK-N-SH_RA	brain:	n/a
39	chr12:122751933-122751983	HAEpiC	amniotic membrane:	n/a
40	chr12:122751933-122751983	BJ	skin:	n/a
41	chr12:122751933-122751983	HRPEpiC	eye:	n/a
42	chr12:122751933-122751983	HUVEC	blood vessel:	n/a
43	chr12:122751933-122751983	ovcar-3	ovarian:	n/a
44	chr12:122751933-122751983	MCF10A-Er-Src	breast:	n/a
45	chr12:122751933-122751983	HRE	kidney:	n/a
46	chr12:122751933-122751983	AG09319	gingival:	n/a
47	chr12:122751933-122751983	AG04449	skin:	fetal
48	chr12:122751933-122751983	LNCaP	prostate:	n/a
49	chr12:122751933-122751983	PANC-1	pancreas:	n/a
50	chr12:122751933-122751983	HCT-116	colon:	n/a

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:122708152..122712753-chr12:122748620..122752557,8	K562	blood:
2	chr12:122750925..122753898-chr12:123011768..123013408,2	MCF-7	breast:
3	chr12:122748134..122753515-chr12:122760156..122766963,8	K562	blood:
4	chr12:122688160..122690771-chr12:122750336..122752523,2	MCF-7	breast:
5	chr12:122751850..122754717-chr12:122758222..122759740,2	K562	blood:
6	chr12:122710760..122712392-chr12:122751088..122752946,2	MCF-7	breast:
7	chr12:122750460..122753402-chr12:122760156..122762778,3	K562	blood:
8	chr12:122707649..122712350-chr12:122748538..122752681,8	K562	blood:
9	chr12:122749733..122752495-chr12:122984163..122985921,2	MCF-7	breast:

No data

Variant related genes	Relation type
VPS33A	TF binding region
ENSG00000256861	TF binding region
ENSG00000256861	CpG island
VPS33A	CpG island
ENSG00000184445	Chromatin interaction
ENSG00000176383	Chromatin interaction
ENSG00000184047	Chromatin interaction
ENSG00000130779	Chromatin interaction
ENSG00000033030	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs60810217	1.00[EUR][1000 genomes]
rs7307891	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73404031	1.00[EUR][1000 genomes]
rs73404040	0.89[ASN][1000 genomes]
rs73404045	0.93[ASN][1000 genomes]
rs73404046	0.93[ASN][1000 genomes]
rs73421727	1.00[EUR][1000 genomes]
rs73421728	1.00[EUR][1000 genomes]
rs7957335	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs872494	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122749400-122752000	Active TSS	iPS-20b Cell Line	embryonic stem cell
2	chr12:122749600-122752000	Active TSS	HUES64 Cell Line	embryonic stem cell
3	chr12:122749800-122752000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr12:122749800-122752000	Active TSS	iPS-15b Cell Line	embryonic stem cell
5	chr12:122749800-122752000	Active TSS	iPS-18 Cell Line	embryonic stem cell
6	chr12:122749800-122752000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr12:122749800-122752200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr12:122750000-122752000	Active TSS	HUES48 Cell Line	embryonic stem cell
9	chr12:122750000-122752000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr12:122750000-122752000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr12:122750000-122752000	Active TSS	Right Atrium	heart
12	chr12:122750000-122752200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr12:122750200-122752000	Active TSS	ES-I3 Cell Line	embryonic stem cell
14	chr12:122750200-122752000	Active TSS	H1 Cell Line	embryonic stem cell
15	chr12:122750200-122752000	Active TSS	H9 Cell Line	embryonic stem cell
16	chr12:122750200-122752000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr12:122750200-122752000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr12:122750200-122752000	Active TSS	Right Ventricle	heart
19	chr12:122750400-122752000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr12:122750400-122752000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
21	chr12:122750400-122752000	Active TSS	Muscle Satellite Cultured Cells	--
22	chr12:122750400-122752000	Active TSS	Colonic Mucosa	Colon
23	chr12:122750400-122752000	Active TSS	NHLF	lung
24	chr12:122750400-122752200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr12:122750400-122752400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr12:122750600-122752000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
27	chr12:122750600-122752600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr12:122750800-122752000	Active TSS	Stomach Smooth Muscle	stomach
29	chr12:122750800-122752200	Active TSS	Rectal Mucosa Donor 29	rectum
30	chr12:122751400-122752000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
31	chr12:122751400-122752000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
32	chr12:122751400-122752000	Flanking Active TSS	Primary T cells from cord blood	blood
33	chr12:122751400-122752000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr12:122751400-122752000	Flanking Active TSS	Rectal Smooth Muscle	rectum
35	chr12:122751400-122752000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
36	chr12:122751400-122757400	Weak transcription	Spleen	Spleen
37	chr12:122751600-122752000	Flanking Active TSS	Primary B cells from cord blood	blood
38	chr12:122751600-122752000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
39	chr12:122751600-122752000	Flanking Active TSS	Primary hematopoietic stem cells	blood
40	chr12:122751600-122752000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
41	chr12:122751600-122752000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
42	chr12:122751600-122752000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
43	chr12:122751600-122752000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
44	chr12:122751600-122752000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
45	chr12:122751600-122752000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
46	chr12:122751600-122752000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
47	chr12:122751600-122752000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr12:122751600-122752000	Flanking Active TSS	Liver	Liver
49	chr12:122751600-122752000	Flanking Active TSS	Brain Cingulate Gyrus	brain
50	chr12:122751600-122752000	Flanking Active TSS	Brain Hippocampus Middle	brain

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