Variant report

Variant	nsv983813
Chromosome Location	chr14:34954942-34960575
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	BHLHE40	chr14:34960561-34960835	HepG2	liver:	n/a	n/a
2	CEBPB	chr14:34960258-34960574	HepG2	liver:	n/a	chr14:34960394-34960405 chr14:34960393-34960404 chr14:34960395-34960404
3	CEBPB	chr14:34960253-34960552	Hela-S3	cervix:	n/a	chr14:34960394-34960405 chr14:34960393-34960404 chr14:34960395-34960404
4	CEBPB	chr14:34960248-34960617	MCF-7	breast:	n/a	chr14:34960394-34960405 chr14:34960393-34960404 chr14:34960395-34960404
5	CEBPB	chr14:34960229-34960551	MCF-7	breast:	n/a	chr14:34960394-34960405 chr14:34960393-34960404 chr14:34960395-34960404
6	CEBPB	chr14:34960251-34960566	K562	blood:	n/a	chr14:34960394-34960405 chr14:34960393-34960404 chr14:34960395-34960404
7	CTCF	chr14:34957700-34957850	GM12878	blood:	n/a	n/a
8	E2F4	chr14:34958425-34958672	MCF10A-Er-Src	breast:	n/a	n/a
9	FOS	chr14:34960315-34961075	MCF10A-Er-Src	breast:	n/a	n/a
10	FOS	chr14:34958595-34958706	MCF10A-Er-Src	breast:	n/a	n/a
11	FOS	chr14:34960303-34961103	MCF10A-Er-Src	breast:	n/a	n/a
12	FOS	chr14:34958523-34958825	MCF10A-Er-Src	breast:	n/a	n/a
13	FOS	chr14:34958515-34958842	MCF10A-Er-Src	breast:	n/a	n/a
14	FOS	chr14:34958518-34958842	MCF10A-Er-Src	breast:	n/a	n/a
15	FOS	chr14:34960253-34960596	MCF10A-Er-Src	breast:	n/a	n/a
16	MYC	chr14:34960337-34960445	MCF10A-Er-Src	breast:	n/a	n/a
17	MYC	chr14:34960332-34960391	MCF10A-Er-Src	breast:	n/a	n/a
18	POLR2A	chr14:34960295-34960834	MCF10A-Er-Src	breast:	n/a	n/a
19	POLR2A	chr14:34960456-34960560	MCF10A-Er-Src	breast:	n/a	n/a
20	STAT3	chr14:34958623-34958871	MCF10A-Er-Src	breast:	n/a	n/a
21	STAT3	chr14:34960211-34961075	MCF10A-Er-Src	breast:	n/a	chr14:34960396-34960404
22	STAT3	chr14:34960200-34960662	MCF10A-Er-Src	breast:	n/a	chr14:34960396-34960404
23	STAT3	chr14:34960188-34961114	MCF10A-Er-Src	breast:	n/a	chr14:34960396-34960404

No.	Distal block	Cell Line	Cell type
1	chr14:34959614..34962811-chr14:34966236..34969041,3	K562	blood:
2	chr14:34930993..34932561-chr14:34956860..34958975,2	MCF-7	breast:
3	chr14:34957508..34960404-chr14:34964346..34966873,2	K562	blood:
4	chr14:34955969..34958289-chr14:35024078..35025715,2	MCF-7	breast:
5	chr14:34931011..34932642-chr14:34957315..34960104,2	K562	blood:
6	chr14:34952643..34954942-chr14:34966507..34969083,2	MCF-7	breast:
7	chr14:34930447..34933424-chr14:34957189..34958854,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000237450	TF binding region
ENSG00000129521	chromatin interactions
ENSG00000165389	chromatin interactions
ENSG00000206588	chromatin interactions

Extended variants
information (count: 289 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:289 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs185672912	chr14:34954966-34954967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs377081939	chr14:34954997-34954998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs145721571	chr14:34955000-34955001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs555171681	chr14:34955011-34955012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs370229560	chr14:34955019-34955020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs537619271	chr14:34955049-34955050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs28680406	chr14:34955070-34955071	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs577815456	chr14:34955072-34955073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs559449040	chr14:34955087-34955088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs565549545	chr14:34955095-34955096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs188575283	chr14:34955115-34955116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs17523454	chr14:34955132-34955133	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs576436313	chr14:34955177-34955178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs543118986	chr14:34955190-34955191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs528270619	chr14:34955192-34955193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs562939096	chr14:34955209-34955210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs138199220	chr14:34955211-34955212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs116409414	chr14:34955213-34955214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs565579000	chr14:34955218-34955219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs368058252	chr14:34955230-34955231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs546610492	chr14:34955263-34955264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs141259978	chr14:34955269-34955270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs4981242	chr14:34955276-34955277	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs576983045	chr14:34955278-34955279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs150270677	chr14:34955309-34955310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs548687661	chr14:34955314-34955315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs138944958	chr14:34955323-34955324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs7161680	chr14:34955341-34955342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs200045707	chr14:34955342-34955343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs35670900	chr14:34955345-34955346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs370016263	chr14:34955346-34955347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs71293233	chr14:34955352-34955353	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs112776776	chr14:34955366-34955367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs149392451	chr14:34955370-34955371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs58686775	chr14:34955377-34955378	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs561409734	chr14:34955399-34955400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs148211978	chr14:34955425-34955426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs532049752	chr14:34955436-34955437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs556703828	chr14:34955437-34955438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs576557754	chr14:34955442-34955443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs555061371	chr14:34955456-34955457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs545662688	chr14:34955466-34955467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs565322911	chr14:34955467-34955468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs572727370	chr14:34955468-34955469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs541383130	chr14:34955476-34955477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs142740090	chr14:34955477-34955478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs372951706	chr14:34955478-34955479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs386776368	chr14:34955530-34955531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs61142179	chr14:34955531-34955532	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs59160594	chr14:34955537-34955538	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:56)

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
Epilepsy	20736978	CNVD
Mental retardation	20736978	CNVD
speech impairment	20736978	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

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:34950600-34966400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr14:34950800-34958200	Weak transcription	Placenta	Placenta
3	chr14:34952800-34960200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr14:34957200-34957400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr14:34957400-34966000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr14:34958000-34959000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr14:34958000-34959000	Enhancers	Esophagus	oesophagus
8	chr14:34958000-34959000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr14:34958200-34958800	Enhancers	A549	lung
10	chr14:34958200-34959000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr14:34958200-34959000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr14:34958200-34959000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr14:34958200-34959000	Enhancers	Placenta Amnion	Placenta Amnion
14	chr14:34958200-34959200	Enhancers	NHEK	skin
15	chr14:34958200-34960800	Enhancers	Placenta	Placenta
16	chr14:34958400-34959000	Enhancers	Primary neutrophils fromperipheralblood	blood
17	chr14:34958400-34959200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr14:34958600-34958800	Enhancers	HepG2	liver
19	chr14:34958600-34959000	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr14:34958600-34959000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr14:34958800-34959000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr14:34958800-34959000	Enhancers	Hela-S3	cervix
23	chr14:34958800-34960400	Weak transcription	A549	lung
24	chr14:34959000-34959200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr14:34959000-34960200	Weak transcription	Primary neutrophils fromperipheralblood	blood
26	chr14:34959000-34960400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr14:34959000-34960400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr14:34959000-34960400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr14:34959000-34960400	Weak transcription	Hela-S3	cervix
30	chr14:34959000-34964800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr14:34959000-34965400	Weak transcription	Primary monocytes fromperipheralblood	blood
32	chr14:34959000-34965400	Weak transcription	Esophagus	oesophagus
33	chr14:34959000-34966000	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr14:34959200-34965600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr14:34959200-34965800	Weak transcription	NHEK	skin
36	chr14:34959400-34960600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr14:34959600-34960600	Enhancers	HepG2	liver
38	chr14:34960200-34960800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
39	chr14:34960200-34960800	Enhancers	Psoas Muscle	Psoas
40	chr14:34960200-34961000	Enhancers	Primary neutrophils fromperipheralblood	blood
41	chr14:34960400-34960600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr14:34960400-34960800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr14:34960400-34961000	Enhancers	HUES48 Cell Line	embryonic stem cell
44	chr14:34960400-34961000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr14:34960400-34961000	Enhancers	A549	lung
46	chr14:34960400-34961000	Enhancers	Hela-S3	cervix
47	chr14:34960400-34961200	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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