Variant report

Variant	nsv827076
Chromosome Location	chr14:105087128-105097182
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:105056988..105059917-chr14:105095476..105097400,2	MCF-7	breast:
2	chr14:105084423..105086474-chr14:105089188..105091844,2	MCF-7	breast:
3	chr14:105094448..105097291-chr14:105102750..105105343,2	K562	blood:
4	chr14:105093513..105095968-chr14:105096544..105098298,2	MCF-7	breast:
5	chr14:105093513..105095968-chr14:105096544..105098298,2	MCF-7	breast:
6	chr14:105082698..105084896-chr14:105087171..105089277,2	K562	blood:

Variant related genes	Relation type
ENSG00000258986	chromatin interactions

Extended variants
information (count: 392 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:392 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs373014175	chr14:105087154-105087155	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs34537412	chr14:105087211-105087212	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs549637222	chr14:105087219-105087220	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs142405699	chr14:105087237-105087238	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs116870182	chr14:105087259-105087260	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs150876996	chr14:105087283-105087284	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs537951693	chr14:105087383-105087384	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs71421875	chr14:105087393-105087394	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs568770475	chr14:105087446-105087447	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs534360174	chr14:105087453-105087454	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs139327441	chr14:105087465-105087466	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs201518016	chr14:105087503-105087504	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs144276209	chr14:105087531-105087532	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs556430818	chr14:105087546-105087547	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs199804550	chr14:105087631-105087632	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs146554733	chr14:105087733-105087734	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs535491904	chr14:105087794-105087795	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs372455832	chr14:105087800-105087801	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs376416862	chr14:105087811-105087812	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs555589455	chr14:105087812-105087813	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs111464799	chr14:105087833-105087834	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs540960953	chr14:105087840-105087841	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs563917935	chr14:105087852-105087853	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs141238564	chr14:105088006-105088007	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs554074213	chr14:105088117-105088118	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs143548818	chr14:105088120-105088121	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs563246391	chr14:105088142-105088143	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs72713835	chr14:105088200-105088201	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs200360107	chr14:105088230-105088231	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs111719481	chr14:105088240-105088241	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs113078287	chr14:105088250-105088251	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs548721936	chr14:105088266-105088267	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs562331590	chr14:105088272-105088273	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs201139688	chr14:105088278-105088279	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs527977259	chr14:105088283-105088284	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs145632000	chr14:105088374-105088375	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs181256935	chr14:105088381-105088382	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs148890047	chr14:105088398-105088399	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs550209424	chr14:105088478-105088479	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs570054844	chr14:105088482-105088483	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs73363311	chr14:105088545-105088546	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs555325625	chr14:105088549-105088550	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs575818872	chr14:105088561-105088562	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs572136258	chr14:105088567-105088568	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs10137814	chr14:105088609-105088610	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs557669691	chr14:105088621-105088622	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs577374405	chr14:105088676-105088677	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs543253748	chr14:105088682-105088683	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs570820288	chr14:105088711-105088712	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs186243624	chr14:105088712-105088713	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:98)

Disease	PMID	Source
Esophageal cancer	21851588	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
High-proliferative meningiomas	17937814	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
Lung cancer	18438408	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
Chronic lymphocytic leukemia	21546498	CNVD
cataract	16735990	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Developmental delay	21147756	CNVD
Cancer	20164920	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Biliary cancer	19435499	CNVD
Follicular lymphoma	20505157	CNVD
Acute lymphoblastic leukemia	20139093	CNVD
Hepatocellular carcinoma	16750200	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Glioblastoma multiforme	21922591	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Ovarian cancer	22174824	CNVD
Non-small cell lung cancer	18320023	CNVD
Melanoma	17363583	CNVD
Prostate cancer	18632612	CNVD
Congenital heart defect	22367666	CNVD
Developmental delay	22367666	CNVD
Genitourinary abnormalities	22367666	CNVD
Intellectual disability	22367666	CNVD
Microcephaly	22367666	CNVD
Muscularhypotonia	22367666	CNVD
Ocular coloboma	22367666	CNVD
Teratozoospermia	22367666	CNVD
Cervical cancer	21062161	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Breast cancer	21990379	CNVD
Breast cancer	16417655	CNVD
22q11 deletion syndrome	22511897	CNVD
Cancer	21129771	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Schizophrenia	21399695	CNVD
Intracranial ependymoma	16609018	CNVD
Lung adenocarcinoma	17086460	CNVD
Gastric adenocarcinoma	19115996	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
14q deletion syndrome	22511897	CNVD
Epilepsy	22083797	CNVD
Urothelial carcinoma	21177765	CNVD
Ovarian cancer	21720365	CNVD
Cancer	17440070	CNVD
Neurocytoma	17123091	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Central neurocytomas	17123091	CNVD
Acute lymphoblastic leukemia	17315016	CNVD
Lung cancer	17086460	CNVD
Mortal	21835882	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	17426248	CNVD
Breast cancer	20932292	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute lymphoblastic leukemia	21980252	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:105083200-105088000	Enhancers	Fetal Brain Male	brain
2	chr14:105085600-105091200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr14:105086000-105089000	Enhancers	Brain Germinal Matrix	brain
4	chr14:105086600-105091400	Weak transcription	Fetal Brain Female	brain
5	chr14:105088000-105088400	Weak transcription	Fetal Brain Male	brain
6	chr14:105088400-105089000	Enhancers	Colon Smooth Muscle	Colon
7	chr14:105088400-105089000	Enhancers	Fetal Brain Male	brain
8	chr14:105091200-105091400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr14:105091200-105091400	Enhancers	Brain Germinal Matrix	brain
10	chr14:105091200-105091800	Enhancers	Fetal Brain Male	brain
11	chr14:105091400-105091800	Enhancers	Fetal Brain Female	brain
12	chr14:105091800-105097400	Weak transcription	Fetal Brain Male	brain
13	chr14:105092400-105093000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr14:105096400-105105600	Weak transcription	Right Atrium	heart

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