Variant report

Variant	rs556148265
Chromosome Location	chr2:40010234-40010235
allele	A/C
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	POLR2A	chr2:40010228-40010282	K562	blood:	n/a	n/a
2	BHLHE40	chr2:40009871-40010944	K562	blood:	n/a	chr2:40010442-40010463 chr2:40010448-40010457 chr2:40010446-40010459 chr2:40010449-40010458 chr2:40010413-40010434 chr2:40010448-40010457
3	MYC	chr2:40009747-40010665	K562	blood:	n/a	chr2:40010419-40010428 chr2:40010417-40010430 chr2:40010448-40010457
4	HEY1	chr2:40009957-40010256	K562	blood:	n/a	n/a
5	EP300	chr2:40009964-40010693	K562	blood:	n/a	n/a
6	USF1	chr2:40010200-40010629	H1-hESC	embryonic stem cell:	n/a	chr2:40010442-40010463 chr2:40010448-40010457 chr2:40010446-40010459 chr2:40010449-40010458 chr2:40010418-40010429 chr2:40010447-40010458 chr2:40010413-40010434 chr2:40010448-40010457
7	CHD2	chr2:40010058-40010373	K562	blood:	n/a	n/a
8	USF1	chr2:40010178-40010620	H1-hESC	embryonic stem cell:	n/a	chr2:40010442-40010463 chr2:40010448-40010457 chr2:40010446-40010459 chr2:40010449-40010458 chr2:40010418-40010429 chr2:40010447-40010458 chr2:40010413-40010434 chr2:40010448-40010457
9	USF1	chr2:40010090-40010980	HCT-116	colon:	n/a	chr2:40010442-40010463 chr2:40010448-40010457 chr2:40010446-40010459 chr2:40010449-40010458 chr2:40010418-40010429 chr2:40010447-40010458 chr2:40010413-40010434 chr2:40010448-40010457
10	MAX	chr2:40010062-40010780	K562	blood:	n/a	chr2:40010419-40010428 chr2:40010417-40010430 chr2:40010448-40010457
11	FOSL1	chr2:40010112-40011000	HCT-116	colon:	n/a	chr2:40010453-40010461 chr2:40010684-40010695
12	CBX3	chr2:40009992-40010630	K562	blood:	n/a	n/a
13	SP1	chr2:40010094-40011016	HCT-116	colon:	n/a	chr2:40010372-40010386 chr2:40010372-40010382 chr2:40010371-40010383 chr2:40010372-40010382 chr2:40010371-40010383
14	JUND	chr2:40009789-40010883	K562	blood:	n/a	chr2:40010453-40010461 chr2:40010684-40010695
15	RCOR1	chr2:40009741-40010803	K562	blood:	n/a	n/a
16	USF1	chr2:40010156-40010780	SK-N-SH	brain:	n/a	chr2:40010442-40010463 chr2:40010448-40010457 chr2:40010446-40010459 chr2:40010449-40010458 chr2:40010418-40010429 chr2:40010447-40010458 chr2:40010413-40010434 chr2:40010448-40010457
17	USF1	chr2:40009942-40010921	HCT-116	colon:	n/a	chr2:40010442-40010463 chr2:40010448-40010457 chr2:40010446-40010459 chr2:40010449-40010458 chr2:40010418-40010429 chr2:40010447-40010458 chr2:40010413-40010434 chr2:40010448-40010457
18	TBP	chr2:40010029-40010513	K562	blood:	n/a	n/a
19	JUND	chr2:40010019-40011069	HCT-116	colon:	n/a	chr2:40010453-40010461 chr2:40010684-40010695
20	USF1	chr2:40010225-40010758	K562	blood:	n/a	chr2:40010442-40010463 chr2:40010448-40010457 chr2:40010446-40010459 chr2:40010449-40010458 chr2:40010418-40010429 chr2:40010447-40010458 chr2:40010413-40010434 chr2:40010448-40010457
21	IRF1	chr2:40009259-40010298	K562	blood:	n/a	chr2:40009937-40009950 chr2:40009937-40009950 chr2:40009937-40009948 chr2:40009942-40009956 chr2:40009936-40009956 chr2:40009848-40009859 chr2:40009937-40009951 chr2:40009280-40009289
22	UBTF	chr2:40010206-40010350	K562	blood:	n/a	n/a
23	IRF1	chr2:40009494-40010304	K562	blood:	n/a	chr2:40009937-40009950 chr2:40009937-40009950 chr2:40009937-40009948 chr2:40009942-40009956 chr2:40009936-40009956 chr2:40009848-40009859 chr2:40009937-40009951
24	USF1	chr2:40010212-40010586	A549	lung:	n/a	chr2:40010442-40010463 chr2:40010448-40010457 chr2:40010446-40010459 chr2:40010449-40010458 chr2:40010418-40010429 chr2:40010447-40010458 chr2:40010413-40010434 chr2:40010448-40010457
25	MAZ	chr2:40010169-40010408	K562	blood:	n/a	n/a
26	ARID3A	chr2:40009729-40010336	K562	blood:	n/a	n/a
27	MAFK	chr2:40009714-40010357	K562	blood:	n/a	chr2:40009793-40009808
28	ATF1	chr2:40009768-40010682	K562	blood:	n/a	n/a
29	JUND	chr2:40010133-40011137	SK-N-SH	brain:	n/a	chr2:40010453-40010461 chr2:40010684-40010695
30	SETDB1	chr2:40009923-40010611	U2OS	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:40006031..40007593-chr2:40009599..40011683,2	MCF-7	breast:
2	chr2:40004284..40008257-chr2:40008263..40012278,6	MCF-7	breast:

Variant related genes	Relation type
SLC8A1-AS1	TF binding region
THUMPD2	TF binding region
ENSG00000138050	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	nsv833870	chr2:39837022-40026024	Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv833881	chr2:39914558-40067256	Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv2696	chr2:39988381-40033288	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1003593	chr2:40009597-40165666	Genic enhancers Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv535651	chr2:40009597-40165666	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:40006800-40014000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr2:40007000-40010400	Weak transcription	NH-A	brain
3	chr2:40007800-40010600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr2:40008000-40010600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr2:40008200-40010400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr2:40008400-40010600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr2:40008600-40010400	Weak transcription	NHDF-Ad	bronchial
8	chr2:40008800-40010600	Enhancers	K562	blood
9	chr2:40008800-40013200	Weak transcription	Primary hematopoietic stem cells	blood
10	chr2:40009000-40010600	Enhancers	Osteobl	bone
11	chr2:40009000-40013200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr2:40009200-40010400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr2:40009200-40010600	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr2:40009200-40013400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr2:40009200-40013800	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr2:40010000-40010400	Enhancers	Placenta Amnion	Placenta Amnion
17	chr2:40010000-40010600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr2:40010000-40010600	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr2:40010000-40010600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr2:40010000-40011000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr2:40010000-40011000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr2:40010000-40011000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr2:40010000-40011000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr2:40010000-40011000	Enhancers	HMEC	breast
25	chr2:40010000-40011000	Enhancers	NHEK	skin
26	chr2:40010000-40013200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr2:40010200-40010400	Flanking Active TSS	HepG2	liver
28	chr2:40010200-40010600	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr2:40010200-40010600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr2:40010200-40010600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr2:40010200-40010600	Enhancers	Muscle Satellite Cultured Cells	--
32	chr2:40010200-40010600	Enhancers	Esophagus	oesophagus
33	chr2:40010200-40010600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
34	chr2:40010200-40010600	Enhancers	Placenta	Placenta
35	chr2:40010200-40010600	Enhancers	HSMMtube	muscle

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