Variant report

Variant	nsv565425
Chromosome Location	chr14:85565987-85616803
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:85611227..85612747-chr17:41464225..41466390,2	K562	blood:
2	chr11:62607627..62609150-chr14:85611227..85612747,2	K562	blood:
3	chr14:85609727..85612747-chr17:41464783..41468587,4	K562	blood:
4	chr14:83766559..83767404-chr14:85597812..85598521,2	MCF-7	breast:
5	chr14:85611226..85611727-chr17:41463821..41464360,2	HCT-116	colon:
6	chr14:85563318..85564867-chr14:85565112..85566756,2	MCF-7	breast:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP11-497E19.2.1-6	chr14:85606972-85607064	l_1023_chr14:85606971-85664205_whiteBloodCell

No data

Variant related genes	Relation type
ENSG00000188825	chromatin interactions
ENSG00000133316	chromatin interactions

Extended variants
information (count: 922 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:922 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs33921395	chr14:85575227-85575228	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs397959448	chr14:85575235-85575236	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs184236581	chr14:85575255-85575256	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs188812841	chr14:85575290-85575291	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs557564792	chr14:85575312-85575313	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs545694698	chr14:85575440-85575441	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs61980980	chr14:85575469-85575470	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs565716196	chr14:85575555-85575556	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs563998101	chr14:85575577-85575578	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs539162655	chr14:85577053-85577054	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs551037182	chr14:85577086-85577087	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs566350046	chr14:85577118-85577119	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs556354996	chr14:85577196-85577197	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs533743933	chr14:85577200-85577201	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs555417148	chr14:85577237-85577238	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs140486848	chr14:85577317-85577318	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs538069903	chr14:85577326-85577327	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs556406033	chr14:85577329-85577330	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs368543541	chr14:85577336-85577337	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs17120757	chr14:85577359-85577360	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs546321539	chr14:85577372-85577373	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs150437599	chr14:85577416-85577417	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs374690631	chr14:85577464-85577465	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs535330350	chr14:85577474-85577475	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs573194967	chr14:85577495-85577496	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs191627072	chr14:85577497-85577498	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs562274014	chr14:85577506-85577507	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs529528919	chr14:85577569-85577570	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs550828687	chr14:85577602-85577603	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs117056912	chr14:85577649-85577650	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs533305332	chr14:85577712-85577713	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs551200243	chr14:85577755-85577756	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs369326197	chr14:85577765-85577766	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs566553941	chr14:85577784-85577785	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs182546757	chr14:85577790-85577791	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs116614438	chr14:85577925-85577926	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs567113991	chr14:85577980-85577981	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs538158067	chr14:85577985-85577986	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs187912617	chr14:85578040-85578041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs571477117	chr14:85578079-85578080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs4899864	chr14:85578087-85578088	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs555583849	chr14:85578110-85578111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs573266896	chr14:85578119-85578120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs540304634	chr14:85578131-85578132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs149150553	chr14:85578184-85578185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs144989600	chr14:85578186-85578187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs544510110	chr14:85578195-85578196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs562804613	chr14:85578196-85578197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs533391740	chr14:85578214-85578215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs545583256	chr14:85578231-85578232	Weak transcription	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
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
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
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Neuroblastoma	18923191	CNVD
Barrett''s syndrome	19417022	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	17053054	CNVD
cataract	16735990	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	16608533	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Breast cancer	17603634	CNVD
Glioblastoma	21080181	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Cancer	20164920	CNVD
Myelofibrosis	22110671	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Glioblastoma multiforme	21569311	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:85575200-85575600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr14:85577000-85578000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr14:85577000-85578000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr14:85578000-85578800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr14:85578600-85579800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr14:85578800-85579400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr14:85578800-85579400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
8	chr14:85579000-85579400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr14:85582800-85583000	Bivalent Enhancer	Fetal Lung	lung
10	chr14:85584400-85584800	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr14:85584400-85584800	Enhancers	Hela-S3	cervix
12	chr14:85584800-85585200	Enhancers	Liver	Liver
13	chr14:85584800-85589000	Weak transcription	Hela-S3	cervix
14	chr14:85584800-85590200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr14:85589000-85589600	Enhancers	Hela-S3	cervix
16	chr14:85589200-85589400	Enhancers	Placenta Amnion	Placenta Amnion
17	chr14:85589200-85596000	Weak transcription	Fetal Intestine Small	intestine
18	chr14:85589600-85590600	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr14:85590200-85591000	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr14:85590400-85590800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr14:85590600-85590800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr14:85590600-85591000	Enhancers	Placenta Amnion	Placenta Amnion
23	chr14:85590600-85591400	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr14:85590800-85591200	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr14:85590800-85591400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr14:85590800-85592000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr14:85591000-85591800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr14:85591000-85591800	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr14:85591200-85592000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr14:85591400-85592000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr14:85591400-85597000	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr14:85591600-85591800	Enhancers	Ovary	ovary
33	chr14:85591800-85593200	Enhancers	Placenta Amnion	Placenta Amnion
34	chr14:85591800-85595200	Weak transcription	Ovary	ovary
35	chr14:85591800-85597400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr14:85592000-85592400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr14:85592000-85597000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr14:85592000-85597400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr14:85593200-85593400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr14:85593400-85595200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr14:85595200-85596200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr14:85595200-85598200	Enhancers	Ovary	ovary
43	chr14:85595400-85595600	Enhancers	Stomach Mucosa	stomach
44	chr14:85595400-85597400	Enhancers	Fetal Stomach	stomach
45	chr14:85595600-85597000	Weak transcription	Stomach Mucosa	stomach
46	chr14:85596000-85596200	Enhancers	Fetal Intestine Small	intestine
47	chr14:85596000-85596200	Enhancers	Pancreas	Pancrea
48	chr14:85596200-85596800	Weak transcription	Fetal Intestine Small	intestine
49	chr14:85596400-85597000	Weak transcription	Pancreas	Pancrea
50	chr14:85596800-85597200	Enhancers	Liver	Liver

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