Variant report

Variant	nsv983979
Chromosome Location	chr14:85542796-85613582
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:7)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

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

(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: 1549 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:1549 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs149522437	chr14:85542850-85542851	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs375003362	chr14:85542882-85542883	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs550589254	chr14:85542889-85542890	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs568740955	chr14:85542890-85542891	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs539757396	chr14:85542891-85542892	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs184840752	chr14:85542954-85542955	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs554139225	chr14:85542961-85542962	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs572533430	chr14:85542993-85542994	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs533741619	chr14:85543150-85543151	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs117848861	chr14:85543152-85543153	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs574919697	chr14:85543153-85543154	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs34087500	chr14:85543203-85543204	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs541956666	chr14:85543214-85543215	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs557351895	chr14:85543261-85543262	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs372811610	chr14:85543309-85543310	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs376468157	chr14:85543336-85543337	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs12882256	chr14:85543343-85543344	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs546184498	chr14:85543382-85543383	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs71418976	chr14:85543408-85543409	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs372750205	chr14:85543451-85543452	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs78747594	chr14:85543513-85543514	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs117955902	chr14:85543517-85543518	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs138699213	chr14:85543546-85543547	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs189985763	chr14:85543573-85543574	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs112882639	chr14:85543580-85543581	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs529029830	chr14:85543644-85543645	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs550390052	chr14:85543747-85543748	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs535724821	chr14:85543748-85543749	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs180793021	chr14:85543762-85543763	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs576887712	chr14:85543768-85543769	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs532813584	chr14:85543778-85543779	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs550916583	chr14:85543803-85543804	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs553810019	chr14:85543855-85543856	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs199799842	chr14:85543881-85543882	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs545538316	chr14:85543902-85543903	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs533828649	chr14:85543911-85543912	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs117525032	chr14:85543925-85543926	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs567325620	chr14:85543942-85543943	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs535977638	chr14:85543943-85543944	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs557190226	chr14:85543958-85543959	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs575664929	chr14:85543964-85543965	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs563741279	chr14:85544020-85544021	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs565668754	chr14:85544058-85544059	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs573617615	chr14:85544100-85544101	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs60617469	chr14:85544105-85544106	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs562344027	chr14:85544117-85544118	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs369806667	chr14:85544141-85544142	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs77111058	chr14:85544195-85544196	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs75679943	chr14:85544202-85544203	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs574169316	chr14:85544252-85544253	Enhancers	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:128 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:85541800-85544600	Enhancers	NHEK	skin
2	chr14:85542800-85543000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr14:85542800-85544400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr14:85543000-85543600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr14:85543600-85544400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr14:85544200-85544400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr14:85544200-85545400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr14:85544600-85545600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr14:85545600-85547000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr14:85546000-85547400	Enhancers	Fetal Heart	heart
11	chr14:85546600-85546800	Enhancers	Pancreas	Pancrea
12	chr14:85546600-85547000	Enhancers	Right Atrium	heart
13	chr14:85546800-85554800	Weak transcription	Pancreas	Pancrea
14	chr14:85553200-85555200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr14:85553400-85555000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr14:85553400-85555400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr14:85553600-85555200	Enhancers	NHEK	skin
18	chr14:85553600-85555400	Enhancers	HMEC	breast
19	chr14:85553800-85554600	Enhancers	Muscle Satellite Cultured Cells	--
20	chr14:85553800-85554800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr14:85553800-85555200	Enhancers	Osteobl	bone
22	chr14:85553800-85555400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr14:85554200-85555600	Enhancers	Hela-S3	cervix
24	chr14:85554600-85554800	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr14:85554600-85555000	Enhancers	HSMMtube	muscle
26	chr14:85554800-85555200	Enhancers	Adipose Nuclei	Adipose
27	chr14:85554800-85555200	Enhancers	Pancreas	Pancrea
28	chr14:85555000-85557200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr14:85555200-85557000	Weak transcription	Osteobl	bone
30	chr14:85555200-85559400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr14:85555400-85559200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr14:85555400-85559400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr14:85557000-85557400	Enhancers	Osteobl	bone
34	chr14:85557200-85557600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr14:85557400-85559400	Weak transcription	Osteobl	bone
36	chr14:85557600-85559200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr14:85558000-85559600	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr14:85559200-85559400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr14:85559200-85560000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr14:85559400-85560000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr14:85559400-85560200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr14:85559400-85560800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr14:85559400-85562000	Enhancers	Osteobl	bone
44	chr14:85559600-85560800	Strong transcription	Duodenum Smooth Muscle	Duodenum
45	chr14:85560000-85560800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr14:85560000-85560800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr14:85560200-85560400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr14:85560200-85560800	Enhancers	Muscle Satellite Cultured Cells	--
49	chr14:85560400-85560600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr14:85560600-85560800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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