Variant report

Variant	nsv827082
Chromosome Location	chr14:105408326-105419862
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:105419320..105427156-chr14:105428137..105437324,13	MCF-7	breast:

Variant related genes	Relation type
ENSG00000185567	chromatin interactions

Extended variants
information (count: 2190 )
Associated
traits (count: 108 )

Variant overlapped rSNPs/rCNVs (count:2190 , 50 per page) page: 1 2 3 4 5 6 7 ... 44

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs541827202	chr14:105408328-105408329	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs201711905	chr14:105408334-105408335	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs150385420	chr14:105408335-105408336	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs370191157	chr14:105408340-105408341	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs114164529	chr14:105408341-105408342	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs199575096	chr14:105408342-105408343	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs532802749	chr14:105408343-105408344	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs370489909	chr14:105408360-105408361	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs201823484	chr14:105408375-105408376	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs572124955	chr14:105408379-105408380	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs569348872	chr14:105408422-105408423	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs375343034	chr14:105408425-105408426	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs200957617	chr14:105408430-105408431	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs554952006	chr14:105408432-105408433	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs568069652	chr14:105408435-105408436	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs199971893	chr14:105408462-105408463	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs553695859	chr14:105408463-105408464	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs377277155	chr14:105408464-105408465	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs576703615	chr14:105408467-105408468	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs368447344	chr14:105408475-105408476	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs539656107	chr14:105408482-105408483	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs187601560	chr14:105408489-105408490	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs576111271	chr14:105408501-105408502	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs541517645	chr14:105408503-105408504	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs138096840	chr14:105408518-105408519	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs202130765	chr14:105408519-105408520	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs149529357	chr14:105408520-105408521	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs193072603	chr14:105408534-105408535	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs372841773	chr14:105408535-105408536	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs200323502	chr14:105408550-105408551	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs376580275	chr14:105408561-105408562	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs201721311	chr14:105408570-105408571	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs369532127	chr14:105408574-105408575	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs560796945	chr14:105408578-105408579	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs373025498	chr14:105408588-105408589	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs376450360	chr14:105408598-105408599	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs370894337	chr14:105408642-105408643	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs372665133	chr14:105408647-105408648	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs34450380	chr14:105408651-105408652	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs532659412	chr14:105408653-105408654	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs200949300	chr14:105408663-105408664	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs370864540	chr14:105408664-105408665	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs373906972	chr14:105408713-105408714	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs200559641	chr14:105408714-105408715	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs201289877	chr14:105408722-105408723	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs531842192	chr14:105408725-105408726	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs201943331	chr14:105408726-105408727	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs568211053	chr14:105408729-105408730	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs375501382	chr14:105408731-105408732	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs533957888	chr14:105408736-105408737	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:108)

Disease	PMID	Source
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
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
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Schizophrenia	20967226	CNVD
early-passage human iPS cells	21368824	CNVD
Williams Syndrome	20824207	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Pancreatic cancer	17952125	CNVD
Schizophrenia	23813976	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164919	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:105399800-105410800	Weak transcription	Primary B cells from cord blood	blood
2	chr14:105399800-105413800	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr14:105399800-105419800	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr14:105399800-105424000	Weak transcription	Hela-S3	cervix
5	chr14:105399800-105425000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr14:105400800-105416000	Weak transcription	Brain Angular Gyrus	brain
7	chr14:105400800-105424600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr14:105400800-105434000	Weak transcription	Aorta	Aorta
9	chr14:105401000-105423000	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr14:105403400-105416800	Strong transcription	Stomach Smooth Muscle	stomach
11	chr14:105403600-105408800	Strong transcription	Muscle Satellite Cultured Cells	--
12	chr14:105404000-105421800	Weak transcription	HUVEC	blood vessel
13	chr14:105404000-105429600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr14:105404200-105410000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr14:105404200-105423400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr14:105404400-105408400	Strong transcription	A549	lung
17	chr14:105404400-105412800	Strong transcription	Fetal Stomach	stomach
18	chr14:105404800-105408600	Strong transcription	Colon Smooth Muscle	Colon
19	chr14:105405000-105413400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr14:105405200-105409400	Strong transcription	NHEK	skin
21	chr14:105405400-105409000	Strong transcription	Rectal Smooth Muscle	rectum
22	chr14:105405400-105412000	Strong transcription	Esophagus	oesophagus
23	chr14:105405600-105408800	Strong transcription	NHDF-Ad	bronchial
24	chr14:105406800-105421600	Weak transcription	NHLF	lung
25	chr14:105406800-105423600	Weak transcription	Pancreas	Pancrea
26	chr14:105407000-105420000	Weak transcription	Fetal Brain Female	brain
27	chr14:105407200-105414000	Weak transcription	Spleen	Spleen
28	chr14:105407200-105426800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr14:105407400-105410600	Strong transcription	Fetal Muscle Leg	muscle
30	chr14:105407400-105431800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr14:105407600-105419800	Weak transcription	HMEC	breast
32	chr14:105407600-105423000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr14:105407800-105408400	Strong transcription	Gastric	stomach
34	chr14:105407800-105423600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr14:105408000-105419600	Weak transcription	HSMMtube	muscle
36	chr14:105408000-105421000	Weak transcription	HSMM	muscle
37	chr14:105408200-105408800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr14:105408200-105412600	Weak transcription	Fetal Muscle Trunk	muscle
39	chr14:105408200-105421600	Weak transcription	Brain Germinal Matrix	brain
40	chr14:105408400-105415200	Weak transcription	A549	lung
41	chr14:105408400-105423600	Weak transcription	Gastric	stomach
42	chr14:105408600-105410400	Weak transcription	Colon Smooth Muscle	Colon
43	chr14:105408800-105414000	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr14:105408800-105419600	Weak transcription	NHDF-Ad	bronchial
45	chr14:105409000-105409800	Weak transcription	Rectal Smooth Muscle	rectum
46	chr14:105409200-105412400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr14:105409400-105413400	Weak transcription	NHEK	skin
48	chr14:105409800-105410800	Strong transcription	Rectal Smooth Muscle	rectum
49	chr14:105410000-105410400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr14:105410400-105414000	Strong transcription	Colon Smooth Muscle	Colon

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