Variant report

Variant	nsv901750
Chromosome Location	chr14:42843039-42971788
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	ATF2	chr14:42890942-42891236	GM12878	blood:	n/a	n/a
2	ATF2	chr14:42898123-42898538	GM12878	blood:	n/a	n/a
3	ATF2	chr14:42898121-42898501	GM12878	blood:	n/a	n/a
4	BATF	chr14:42898158-42898555	GM12878	blood:	n/a	n/a
5	BATF	chr14:42890963-42891282	GM12878	blood:	n/a	chr14:42891116-42891127 chr14:42891154-42891165
6	BATF	chr14:42890928-42891203	GM12878	blood:	n/a	chr14:42891116-42891127 chr14:42891154-42891165
7	BCL11A	chr14:42944608-42944827	H1-hESC	embryonic stem cell:	n/a	n/a
8	BCL11A	chr14:42890931-42891249	GM12878	blood:	n/a	n/a
9	BCL11A	chr14:42898070-42898555	GM12878	blood:	n/a	n/a
10	BCL11A	chr14:42898127-42898592	GM12878	blood:	n/a	n/a
11	BHLHE40	chr14:42898065-42898516	GM12878	blood:	n/a	n/a
12	CCNT2	chr14:42932649-42932849	K562	blood:	n/a	n/a
13	CEBPB	chr14:42941893-42942056	HepG2	liver:	n/a	chr14:42941935-42941946
14	CEBPB	chr14:42917905-42918115	HepG2	liver:	n/a	chr14:42918004-42918015
15	CEBPB	chr14:42854827-42854835	HepG2	liver:	n/a	n/a
16	CEBPB	chr14:42934361-42934461	HepG2	liver:	n/a	chr14:42934388-42934399
17	CEBPB	chr14:42970807-42970999	HepG2	liver:	n/a	chr14:42970856-42970867
18	CEBPB	chr14:42968790-42969062	A549	lung:	n/a	chr14:42968894-42968905 chr14:42968918-42968929
19	CEBPB	chr14:42968773-42969081	HepG2	liver:	n/a	chr14:42968894-42968905 chr14:42968918-42968929
20	CEBPB	chr14:42947180-42947425	A549	lung:	n/a	chr14:42947307-42947320 chr14:42947309-42947320 chr14:42947307-42947318
21	CEBPB	chr14:42968792-42969062	IMR90	lung:	n/a	chr14:42968894-42968905 chr14:42968918-42968929
22	CEBPB	chr14:42947135-42947467	HepG2	liver:	n/a	chr14:42947307-42947320 chr14:42947309-42947320 chr14:42947307-42947318
23	CEBPB	chr14:42868466-42868631	HepG2	liver:	n/a	n/a
24	CEBPB	chr14:42898784-42898952	HepG2	liver:	n/a	chr14:42898837-42898848
25	CHD1	chr14:42861094-42861135	GM12878	blood:	n/a	n/a
26	CHD1	chr14:42898060-42898418	GM12878	blood:	n/a	n/a
27	CHD2	chr14:42898044-42898538	GM12878	blood:	n/a	n/a
28	CTCF	chr14:42847580-42847730	MCF-7	breast:	n/a	n/a
29	CTCF	chr14:42926738-42926794	GM20000	blood:	n/a	n/a
30	CTCF	chr14:42848375-42848417	MCF-7	breast:	n/a	n/a
31	CTCF	chr14:42847578-42847785	MCF-7	breast:	n/a	n/a
32	CTCF	chr14:42847560-42847710	HCT-116	colon:	n/a	n/a
33	CTCF	chr14:42900940-42901090	GM12864	blood:	n/a	n/a
34	CTCF	chr14:42848571-42848710	H1-hESC	embryonic stem cell:	n/a	n/a
35	CTCF	chr14:42847565-42847819	MCF-7	breast:	n/a	n/a
36	CTCF	chr14:42847614-42847725	A549	lung:	n/a	n/a
37	CTCF	chr14:42847588-42847773	H1-hESC	embryonic stem cell:	n/a	n/a
38	CTCF	chr14:42847415-42847856	MCF-7	breast:	n/a	n/a
39	CTCF	chr14:42847636-42847671	GM19240	blood:	n/a	n/a
40	CTCF	chr14:42848532-42848749	MCF-7	breast:	n/a	n/a
41	CTCF	chr14:42847680-42847830	A549	lung:	n/a	n/a
42	CTCF	chr14:42847575-42847811	MCF-7	breast:	n/a	n/a
43	CTCF	chr14:42847506-42847846	H1-hESC	embryonic stem cell:	n/a	n/a
44	CTCF	chr14:42847557-42847894	MCF-7	breast:	n/a	n/a
45	CTCF	chr14:42847567-42847785	GM19239	blood:	n/a	n/a
46	CTCF	chr14:42848539-42848747	MCF-7	breast:	n/a	n/a
47	CTCF	chr14:42847680-42847830	NHEK	skin:	n/a	n/a
48	CTCF	chr14:42847612-42847730	NHEK	skin:	n/a	n/a
49	CTCF	chr14:42955061-42955120	Kidney_OC	kidney:	n/a	n/a
50	CTCF	chr14:42848518-42848772	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:42933700..42935505-chr14:42937514..42939043,2	MCF-7	breast:
2	chr14:42871630..42873900-chr14:42876970..42879114,2	MCF-7	breast:
3	chr14:42933286..42933984-chr3:29810719..29811455,2	MCF-7	breast:
4	chr14:42933700..42935505-chr14:42937514..42939043,2	MCF-7	breast:
5	chr14:42854900..42857464-chr14:42857634..42860608,2	MCF-7	breast:
6	chr14:42871630..42873900-chr14:42876970..42879114,2	MCF-7	breast:
7	chr14:42955061..42956041-chr18:32446617..32447280,2	MCF-7	breast:
8	chr14:42854900..42857464-chr14:42857634..42860608,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP11-214N1.1.1-2	chr14:42881776-42883030	NONHSAT036588
2	lnc-RP11-214N1.1.1-1	chr14:42864148-42864295	ENSG00000258394.1
3	lnc-RP11-214N1.1.1-2	chr14:42881776-42882409	ENSG00000258850.1

Variant related genes	Relation type
ENSG00000258850	TF binding region

Extended variants
information (count: 1765 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:1765 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs992355	chr14:42847609-42847610	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs1351793	chr14:42847610-42847611	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs200354977	chr14:42847616-42847617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs559613299	chr14:42847645-42847646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs533494838	chr14:42847697-42847698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs73316682	chr14:42847751-42847752	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs137919962	chr14:42847771-42847772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs76945887	chr14:42847772-42847773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs549665468	chr14:42847777-42847778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs141356434	chr14:42847834-42847835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs567674574	chr14:42847883-42847884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs73316683	chr14:42847884-42847885	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs536419276	chr14:42847912-42847913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs547399990	chr14:42847920-42847921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs183399469	chr14:42847960-42847961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs565625946	chr14:42847964-42847965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs556198914	chr14:42847983-42847984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs576318572	chr14:42848036-42848037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs145082459	chr14:42848065-42848066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs544952418	chr14:42848078-42848079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs117162159	chr14:42848085-42848086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs570268092	chr14:42848097-42848098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs112786934	chr14:42848137-42848138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs556110759	chr14:42848147-42848148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs574054752	chr14:42848148-42848149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs188855647	chr14:42848184-42848185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs2086795	chr14:42848201-42848202	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs192642255	chr14:42848216-42848217	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs545528430	chr14:42848229-42848230	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs118105188	chr14:42848233-42848234	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs35029200	chr14:42848284-42848285	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs2101245	chr14:42848285-42848286	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs77855637	chr14:42848287-42848288	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs529224335	chr14:42848292-42848293	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs144695622	chr14:42848299-42848300	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs148080859	chr14:42848318-42848319	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs543525339	chr14:42848343-42848344	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs143804358	chr14:42848374-42848375	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs551465760	chr14:42848412-42848413	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs183415654	chr14:42848414-42848415	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs113583503	chr14:42848436-42848437	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs556024473	chr14:42848465-42848466	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs74049709	chr14:42848485-42848486	Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs140773018	chr14:42848514-42848515	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs553088865	chr14:42848532-42848533	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs74049710	chr14:42848575-42848576	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs2626834	chr14:42848609-42848610	Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs186671950	chr14:42848659-42848660	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs2626418	chr14:42848673-42848674	Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs543199769	chr14:42848678-42848679	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
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
Chronic myeloid leukemia	20724749	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Wilms tumour	21544195	CNVD
Burkitt''s lymphoma	19759907	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21785460	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21858162	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Thyroid cancer	19470727	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	23813976	CNVD
Immune disease	21076436	CNVD
Immune disease	21042300	CNVD
Neurodevelopmental disorder	22521361	CNVD
Renal cell carcinoma	18194544	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Bipolar disorder	19114987	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Osteosarcoma	21215367	CNVD
Glioblastoma multiforme	21569311	CNVD
Schizophrenia	21346763	CNVD
Schizophrenia	20967226	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:42847600-42848200	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr14:42848200-42848400	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
3	chr14:42848200-42848800	ZNF genes & repeats	Pancreas	Pancrea
4	chr14:42848400-42848800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr14:42848400-42848800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr14:42848400-42848800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr14:42860400-42860800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr14:42860400-42861200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr14:42862000-42864000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr14:42864000-42864200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr14:42864200-42865200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr14:42865200-42866200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr14:42868000-42869200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr14:42881000-42882000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr14:42890200-42891200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr14:42890400-42890600	Bivalent/Poised TSS	Gastric	stomach
17	chr14:42890400-42890800	Enhancers	NHEK	skin
18	chr14:42890400-42891000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr14:42890600-42890800	Active TSS	Gastric	stomach
20	chr14:42891000-42891400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr14:42891400-42891600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr14:42891600-42898000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr14:42893800-42894600	Enhancers	Primary B cells from peripheral blood	blood
24	chr14:42894600-42897800	Weak transcription	Primary B cells from peripheral blood	blood
25	chr14:42897800-42899200	Enhancers	Primary B cells from peripheral blood	blood
26	chr14:42898000-42899000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr14:42898000-42899000	Enhancers	NHEK	skin
28	chr14:42898400-42899200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr14:42919800-42920200	Enhancers	Pancreatic Islets	Pancreatic Islet
30	chr14:42929200-42929400	Enhancers	Esophagus	oesophagus
31	chr14:42929400-42933400	Weak transcription	Esophagus	oesophagus
32	chr14:42933400-42933600	ZNF genes & repeats	Esophagus	oesophagus
33	chr14:42938400-42938800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr14:42938600-42939400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr14:42938800-42939200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr14:42938800-42939600	Active TSS	A549	lung
37	chr14:42939000-42939400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr14:42939200-42939600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr14:42942000-42942200	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr14:42942000-42942200	Enhancers	iPS-15b Cell Line	embryonic stem cell
41	chr14:42942200-42943200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr14:42942200-42943600	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr14:42943000-42951600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr14:42943200-42944600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr14:42943200-42946400	Enhancers	iPS-15b Cell Line	embryonic stem cell
46	chr14:42943400-42943800	Enhancers	H1 Cell Line	embryonic stem cell
47	chr14:42943600-42944400	Enhancers	HUES48 Cell Line	embryonic stem cell
48	chr14:42943600-42944600	Enhancers	H9 Cell Line	embryonic stem cell
49	chr14:42943600-42946400	Enhancers	HUES64 Cell Line	embryonic stem cell
50	chr14:42943800-42944400	Enhancers	ES-I3 Cell Line	embryonic stem cell

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