Variant report

Variant	rs78468838
Chromosome Location	chr2:40010452-40010453
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	GABPA	chr2:40010289-40010954	MCF-7	breast:	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	JUND	chr2:40010326-40011014	MCF-7	breast:	n/a	chr2:40010453-40010461 chr2:40010684-40010695
4	ZC3H11A	chr2:40010294-40010658	K562	blood:	n/a	n/a
5	BCL3	chr2:40010306-40010883	GM12878	blood:	n/a	n/a
6	SIN3AK20	chr2:40010298-40011034	MCF-7	breast:	n/a	n/a
7	USF1	chr2:40010256-40010624	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
8	MYC	chr2:40009747-40010665	K562	blood:	n/a	chr2:40010419-40010428 chr2:40010417-40010430 chr2:40010448-40010457
9	EP300	chr2:40009964-40010693	K562	blood:	n/a	n/a
10	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
11	USF1	chr2:40010274-40010658	ECC-1	luminal epithelium:	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
12	FOS	chr2:40010319-40010819	MCF10A-Er-Src	breast:	n/a	chr2:40010453-40010461 chr2:40010684-40010695
13	FOSL2	chr2:40010374-40011010	MCF-7	breast:	n/a	chr2:40010453-40010461
14	USF2	chr2:40010268-40010609	H1-hESC	embryonic stem cell:	n/a	chr2:40010442-40010463 chr2:40010448-40010457 chr2:40010446-40010459 chr2:40010449-40010458 chr2:40010447-40010458 chr2:40010418-40010429 chr2:40010413-40010434 chr2:40010448-40010457
15	FOS	chr2:40010396-40010843	HUVEC	blood vessel:	n/a	chr2:40010453-40010461 chr2:40010684-40010695
16	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
17	JUND	chr2:40010335-40011010	SK-N-SH	brain:	n/a	chr2:40010453-40010461 chr2:40010684-40010695
18	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
19	MAX	chr2:40010062-40010780	K562	blood:	n/a	chr2:40010419-40010428 chr2:40010417-40010430 chr2:40010448-40010457
20	FOS	chr2:40010341-40010853	MCF10A-Er-Src	breast:	n/a	chr2:40010453-40010461 chr2:40010684-40010695
21	USF1	chr2:40010266-40010587	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
22	FOSL1	chr2:40010112-40011000	HCT-116	colon:	n/a	chr2:40010453-40010461 chr2:40010684-40010695
23	USF1	chr2:40010274-40010558	HepG2	liver:	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
24	USF1	chr2:40010270-40010583	SK-N-SH_RA	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
25	CBX3	chr2:40009992-40010630	K562	blood:	n/a	n/a
26	FOSL1	chr2:40010281-40011032	HCT-116	colon:	n/a	chr2:40010453-40010461 chr2:40010684-40010695
27	USF1	chr2:40010257-40010604	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
28	SP1	chr2:40010094-40011016	HCT-116	colon:	n/a	chr2:40010372-40010386 chr2:40010372-40010382 chr2:40010371-40010383 chr2:40010372-40010382 chr2:40010371-40010383
29	USF2	chr2:40010301-40010615	K562	blood:	n/a	chr2:40010442-40010463 chr2:40010448-40010457 chr2:40010446-40010459 chr2:40010449-40010458 chr2:40010447-40010458 chr2:40010418-40010429 chr2:40010413-40010434 chr2:40010448-40010457
30	FOSL2	chr2:40010342-40010997	MCF-7	breast:	n/a	chr2:40010453-40010461
31	JUND	chr2:40009789-40010883	K562	blood:	n/a	chr2:40010453-40010461 chr2:40010684-40010695
32	USF1	chr2:40010293-40010579	SK-N-SH_RA	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
33	RCOR1	chr2:40009741-40010803	K562	blood:	n/a	n/a
34	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
35	USF2	chr2:40010340-40010594	GM12878	blood:	n/a	chr2:40010442-40010463 chr2:40010448-40010457 chr2:40010446-40010459 chr2:40010449-40010458 chr2:40010447-40010458 chr2:40010418-40010429 chr2:40010413-40010434 chr2:40010448-40010457
36	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
37	TBP	chr2:40010029-40010513	K562	blood:	n/a	n/a
38	USF2	chr2:40010254-40010672	Hela-S3	cervix:	n/a	chr2:40010442-40010463 chr2:40010448-40010457 chr2:40010446-40010459 chr2:40010449-40010458 chr2:40010447-40010458 chr2:40010418-40010429 chr2:40010413-40010434 chr2:40010448-40010457
39	USF2	chr2:40010269-40010635	HepG2	liver:	n/a	chr2:40010442-40010463 chr2:40010448-40010457 chr2:40010446-40010459 chr2:40010449-40010458 chr2:40010447-40010458 chr2:40010418-40010429 chr2:40010413-40010434 chr2:40010448-40010457
40	JUND	chr2:40010019-40011069	HCT-116	colon:	n/a	chr2:40010453-40010461 chr2:40010684-40010695
41	POLR2A	chr2:40010248-40010710	HCT-116	colon:	n/a	n/a
42	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
43	NFE2	chr2:40010392-40010487	GM12878	blood:	n/a	chr2:40010419-40010428 chr2:40010448-40010457
44	USF1	chr2:40010292-40010685	ECC-1	luminal epithelium:	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
45	FOS	chr2:40010289-40010855	MCF10A-Er-Src	breast:	n/a	chr2:40010453-40010461 chr2:40010684-40010695
46	JUN	chr2:40010359-40010827	K562	blood:	n/a	chr2:40010453-40010461
47	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
48	GATA3	chr2:40010305-40010986	MCF-7	breast:	n/a	n/a
49	JUND	chr2:40010343-40010851	HepG2	liver:	n/a	chr2:40010453-40010461 chr2:40010684-40010695
50	ATF3	chr2:40010278-40010499	K562	blood:	n/a	chr2:40010448-40010457 chr2:40010419-40010428

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:38 , 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	chr2:40007800-40010600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr2:40008000-40010600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr2:40008400-40010600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr2:40008800-40010600	Enhancers	K562	blood
6	chr2:40008800-40013200	Weak transcription	Primary hematopoietic stem cells	blood
7	chr2:40009000-40010600	Enhancers	Osteobl	bone
8	chr2:40009000-40013200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr2:40009200-40010600	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr2:40009200-40013400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr2:40009200-40013800	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr2:40010000-40010600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr2:40010000-40010600	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr2:40010000-40010600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr2:40010000-40011000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr2:40010000-40011000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr2:40010000-40011000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr2:40010000-40011000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr2:40010000-40011000	Enhancers	HMEC	breast
20	chr2:40010000-40011000	Enhancers	NHEK	skin
21	chr2:40010000-40013200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr2:40010200-40010600	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr2:40010200-40010600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr2:40010200-40010600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr2:40010200-40010600	Enhancers	Muscle Satellite Cultured Cells	--
26	chr2:40010200-40010600	Enhancers	Esophagus	oesophagus
27	chr2:40010200-40010600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr2:40010200-40010600	Enhancers	Placenta	Placenta
29	chr2:40010200-40010600	Enhancers	HSMMtube	muscle
30	chr2:40010400-40010600	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr2:40010400-40010600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr2:40010400-40010600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr2:40010400-40010600	Enhancers	Hela-S3	cervix
34	chr2:40010400-40010600	Active TSS	HepG2	liver
35	chr2:40010400-40010600	Enhancers	NHLF	lung
36	chr2:40010400-40010800	Enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr2:40010400-40011000	Enhancers	NH-A	brain
38	chr2:40010400-40011000	Enhancers	NHDF-Ad	bronchial

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