Variant report

Variant	nsv84623
Chromosome Location	chr14:35450381-35450398
allele	n/a
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	ARID3A	chr14:35449799-35452898	HepG2	liver:	n/a	chr14:35452584-35452600
2	ARID3A	chr14:35450353-35450528	K562	blood:	n/a	n/a
3	BCLAF1	chr14:35450327-35450834	GM12878	blood:	n/a	n/a
4	BHLHE40	chr14:35450069-35450816	HepG2	liver:	n/a	n/a
5	CEBPB	chr14:35450265-35450786	K562	blood:	n/a	n/a
6	CEBPB	chr14:35450038-35450400	HepG2	liver:	n/a	n/a
7	CEBPB	chr14:35450083-35450803	HepG2	liver:	n/a	n/a
8	CEBPB	chr14:35450096-35450845	Hela-S3	cervix:	n/a	n/a
9	CEBPD	chr14:35449998-35450839	HepG2	liver:	n/a	n/a
10	CREB1	chr14:35449967-35452755	HepG2	liver:	n/a	n/a
11	CTCF	chr14:35450240-35450390	HCFaa	heart:	n/a	n/a
12	CTCF	chr14:35450240-35450390	AG04450	lung:	n/a	n/a
13	E2F4	chr14:35450304-35450763	MCF10A-Er-Src	breast:	n/a	n/a
14	ELF1	chr14:35450004-35450765	HepG2	liver:	n/a	n/a
15	EP300	chr14:35450143-35450870	HepG2	liver:	n/a	n/a
16	EP300	chr14:35450030-35450808	K562	blood:	n/a	n/a
17	EP300	chr14:35449935-35452574	HepG2	liver:	n/a	n/a
18	FOXA1	chr14:35449991-35450867	HepG2	liver:	n/a	chr14:35450466-35450478
19	FOXA1	chr14:35450028-35450823	HepG2	liver:	n/a	chr14:35450466-35450478
20	FOXA1	chr14:35450055-35450788	HepG2	liver:	n/a	chr14:35450466-35450478
21	FOXA1	chr14:35449650-35450840	HepG2	liver:	n/a	chr14:35450466-35450478
22	FOXA2	chr14:35450004-35450820	HepG2	liver:	n/a	chr14:35450466-35450478
23	GTF2F1	chr14:35450085-35451116	Hela-S3	cervix:	n/a	n/a
24	HA-E2F1	chr14:35449996-35450724	MCF-7	breast:	n/a	n/a
25	HCFC1	chr14:35449820-35453341	Hela-S3	cervix:	n/a	n/a
26	HDAC2	chr14:35449893-35452822	HepG2	liver:	n/a	n/a
27	HEY1	chr14:35449956-35453003	HepG2	liver:	n/a	chr14:35452470-35452485
28	HEY1	chr14:35449967-35452627	HepG2	liver:	n/a	chr14:35452470-35452485
29	HNF4A	chr14:35450150-35450988	HepG2	liver:	n/a	chr14:35450636-35450651
30	HNF4A	chr14:35450246-35450951	HepG2	liver:	n/a	chr14:35450636-35450651
31	HNF4G	chr14:35449948-35450880	HepG2	liver:	n/a	n/a
32	JUND	chr14:35450302-35450787	K562	blood:	n/a	chr14:35450720-35450731
33	KAP1	chr14:35449869-35452510	HEK293	kidney:	n/a	n/a
34	KAP1	chr14:35449989-35450704	U2OS	brain:	n/a	n/a
35	MAFF	chr14:35449897-35450833	HepG2	liver:	n/a	chr14:35450167-35450185
36	MAFK	chr14:35449958-35452418	Hela-S3	cervix:	n/a	chr14:35450168-35450183
37	MAFK	chr14:35449899-35450810	HepG2	liver:	n/a	chr14:35450168-35450183
38	MAFK	chr14:35449893-35450948	HepG2	liver:	n/a	chr14:35450168-35450183
39	MAX	chr14:35449917-35452682	A549	lung:	n/a	chr14:35452357-35452366 chr14:35451986-35451994
40	MAX	chr14:35450382-35452619	NB4	blood:	n/a	chr14:35452357-35452366 chr14:35451986-35451994
41	MAX	chr14:35450085-35450436	K562	blood:	n/a	n/a
42	MAX	chr14:35449990-35450956	Hela-S3	cervix:	n/a	n/a
43	MAX	chr14:35449789-35453237	HepG2	liver:	n/a	chr14:35452357-35452366 chr14:35451986-35451994
44	MAX	chr14:35450156-35450767	K562	blood:	n/a	n/a
45	MAX	chr14:35450160-35450836	HepG2	liver:	n/a	n/a
46	MAZ	chr14:35450268-35450896	HepG2	liver:	n/a	n/a
47	MAZ	chr14:35449795-35452720	IMR90	lung:	n/a	chr14:35452357-35452366 chr14:35451986-35451994
48	MBD4	chr14:35449651-35453338	HepG2	liver:	n/a	n/a
49	MBD4	chr14:35449705-35452854	HepG2	liver:	n/a	n/a
50	MXI1	chr14:35449638-35453204	IMR90	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:35341954..35346847-chr14:35449484..35456301,15	MCF-7	breast:
2	chr14:35449656..35453109-chr14:35514529..35517063,4	MCF-7	breast:
3	chr14:35450019..35452754-chr14:35591061..35594828,4	K562	blood:
4	chr14:35450099..35453742-chr14:35513316..35517237,10	K562	blood:
5	chr14:35449513..35454029-chr14:35868261..35874094,7	MCF-7	breast:
6	chr14:35450376..35452323-chr14:35627573..35629639,2	K562	blood:
7	chr14:35341948..35345853-chr14:35449382..35453241,7	K562	blood:
8	chr14:35450042..35454830-chr14:35589505..35593708,8	K562	blood:
9	chr14:35449839..35454578-chr14:35513316..35515954,7	K562	blood:
10	chr14:35450245..35452169-chr14:35590215..35593362,3	MCF-7	breast:
11	chr14:35450146..35454994-chr14:35588530..35593322,8	MCF-7	breast:
12	chr14:35341867..35346512-chr14:35447191..35456965,26	MCF-7	breast:
13	chr14:35023701..35025768-chr14:35449276..35451419,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-BAZ1A-1	chr14:35449441-35452103	NONHSAT036355

Variant related genes	Relation type
SRP54	TF binding region
ENSG00000092020	chromatin interactions
ENSG00000100890	chromatin interactions
ENSG00000258738	chromatin interactions
ENSG00000206588	chromatin interactions
ENSG00000259090	chromatin interactions
ENSG00000198604	chromatin interactions
ENSG00000258790	chromatin interactions
ENSG00000151327	chromatin interactions
ENSG00000100906	chromatin interactions

Extended variants
information (count: 3 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543713909	chr14:35450385-35450386	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
2	rs200825750	chr14:35450390-35450391	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
3	rs199544257	chr14:35450391-35450392	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
Esophageal cancer	21851588	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Non-small cell lung cancer	21044232	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Medulloblastoma	21979893	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Hepatocellular carcinoma	22174799	CNVD
Colorectal cancer	16774939	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	17899364	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Chronic myeloid leukemia	20724749	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Wilms tumour	21544195	CNVD
Esophageal cancer	20955586	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Burkitt''s lymphoma	19759907	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21045282	CNVD
Cancer	21129771	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Lung cancer	17925434	CNVD
Colorectal cancer	16272173	CNVD
Glioma	24330732	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21858162	CNVD

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:35418000-35450600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr14:35421800-35450600	Weak transcription	Esophagus	oesophagus
3	chr14:35425800-35450600	Weak transcription	Ovary	ovary
4	chr14:35426000-35450400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr14:35426000-35450800	Weak transcription	Gastric	stomach
6	chr14:35449600-35450400	Enhancers	Primary hematopoietic stem cells	blood
7	chr14:35449600-35450400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr14:35449600-35450400	Enhancers	Fetal Heart	heart
9	chr14:35449600-35452800	Active TSS	Rectal Mucosa Donor 29	rectum
10	chr14:35449600-35453000	Active TSS	HUES64 Cell Line	embryonic stem cell
11	chr14:35449800-35450400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr14:35449800-35450400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr14:35449800-35450400	Active TSS	Duodenum Mucosa	Duodenum
14	chr14:35449800-35450400	Enhancers	Fetal Brain Male	brain
15	chr14:35449800-35451000	Flanking Active TSS	Dnd41	blood
16	chr14:35449800-35452800	Active TSS	Hela-S3	cervix
17	chr14:35449800-35453000	Active TSS	NHEK	skin
18	chr14:35449800-35453000	Active TSS	Osteobl	bone
19	chr14:35449800-35453200	Active TSS	NHDF-Ad	bronchial
20	chr14:35449800-35453400	Active TSS	GM12878-XiMat	blood
21	chr14:35449800-35453600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr14:35449800-35453600	Active TSS	NHLF	lung
23	chr14:35449800-35455400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr14:35450000-35450400	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr14:35450000-35450400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr14:35450000-35450400	Active TSS	iPS-15b Cell Line	embryonic stem cell
27	chr14:35450000-35450400	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr14:35450000-35450400	Enhancers	Primary monocytes fromperipheralblood	blood
29	chr14:35450000-35450400	Enhancers	Primary B cells from cord blood	blood
30	chr14:35450000-35450400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
31	chr14:35450000-35450400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
32	chr14:35450000-35450400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
33	chr14:35450000-35450400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr14:35450000-35450400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
35	chr14:35450000-35450400	Enhancers	Adipose Nuclei	Adipose
36	chr14:35450000-35450400	Active TSS	Brain Anterior Caudate	brain
37	chr14:35450000-35450400	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
38	chr14:35450000-35450400	Enhancers	Fetal Muscle Leg	muscle
39	chr14:35450000-35450400	Enhancers	Lung	lung
40	chr14:35450000-35450400	Flanking Active TSS	Pancreas	Pancrea
41	chr14:35450000-35450400	Enhancers	Spleen	Spleen
42	chr14:35450000-35450400	Enhancers	Monocytes-CD14+_RO01746	blood
43	chr14:35450000-35450600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr14:35450000-35450600	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr14:35450000-35450600	Enhancers	Primary B cells from peripheral blood	blood
46	chr14:35450000-35450600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr14:35450000-35450600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
48	chr14:35450000-35450600	Enhancers	Brain Substantia Nigra	brain
49	chr14:35450000-35450600	Enhancers	Left Ventricle	heart
50	chr14:35450000-35450600	Enhancers	Right Ventricle	heart

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