Variant report

Variant	nsv542221
Chromosome Location	chr14:104968968-105036524
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:57)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:57 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr14:104599830..104602632-chr14:105024556..105026842,2	MCF-7	breast:
2	chr14:105034085..105038904-chr14:105041483..105045004,4	MCF-7	breast:
3	chr14:105027918..105029787-chr14:105034276..105037133,2	MCF-7	breast:
4	chr14:104972353..104974316-chr14:104979460..104981371,2	K562	blood:
5	chr14:105017888..105020132-chr14:105106949..105108571,2	MCF-7	breast:
6	chr14:105025262..105028783-chr14:105030319..105032347,4	MCF-7	breast:
7	chr14:105030217..105030977-chr14:105106374..105106938,2	K562	blood:
8	chr14:104603594..104604494-chr14:105016753..105017932,4	MCF-7	breast:
9	chr14:104989297..104991322-chr14:104992411..104994539,2	MCF-7	breast:
10	chr14:105016071..105018557-chr14:105018817..105021096,3	K562	blood:
11	chr14:104998567..105001306-chr14:105002948..105006156,3	MCF-7	breast:
12	chr14:104972353..104974316-chr14:104979460..104981371,2	K562	blood:
13	chr14:104808612..104811334-chr14:105028919..105032790,3	MCF-7	breast:
14	chr14:104544004..104544697-chr14:105030089..105031236,3	MCF-7	breast:
15	chr14:105017735..105019335-chr6:28831183..28833671,2	MCF-7	breast:
16	chr14:104544095..104545346-chr14:105030053..105031029,7	K562	blood:
17	chr14:105018505..105021042-chr14:105030444..105032502,2	MCF-7	breast:
18	chr14:105013872..105015383-chr14:105019169..105021029,2	K562	blood:
19	chr14:105027918..105029787-chr14:105034276..105037133,2	MCF-7	breast:
20	chr14:105017921..105022172-chr14:105022189..105024897,5	MCF-7	breast:
21	chr14:104972522..104975026-chr14:104979915..104983932,3	MCF-7	breast:
22	chr14:105006694..105010475-chr14:105012280..105015827,3	MCF-7	breast:
23	chr14:104969493..104972414-chr14:104974399..104975982,2	K562	blood:
24	chr14:104597425..104598274-chr14:105030009..105030913,3	MCF-7	breast:
25	chr14:104972522..104975026-chr14:104979915..104983932,3	MCF-7	breast:
26	chr14:105016071..105018557-chr14:105018817..105021096,3	K562	blood:
27	chr14:105022528..105025531-chr14:105027060..105029977,3	K562	blood:
28	chr14:104603560..104604807-chr14:105030044..105030981,6	MCF-7	breast:
29	chr14:104603534..104604192-chr14:105028243..105029014,2	MCF-7	breast:
30	chr14:104979670..104981888-chr16:405142..406765,2	MCF-7	breast:
31	chr14:104969493..104972414-chr14:104974399..104975982,2	K562	blood:
32	chr14:104602285..104604606-chr14:105027289..105030127,2	MCF-7	breast:
33	chr14:104694080..104694805-chr14:105030047..105031033,2	MCF-7	breast:
34	chr14:104578163..104580512-chr14:105027254..105029393,2	MCF-7	breast:
35	chr14:104603333..104605492-chr14:105030428..105032769,2	MCF-7	breast:
36	chr14:104998567..105001306-chr14:105002948..105006156,3	MCF-7	breast:
37	chr14:105022528..105025531-chr14:105027060..105029977,3	K562	blood:
38	chr14:104597148..104597987-chr14:105029848..105030810,3	MCF-7	breast:
39	chr14:105013872..105015383-chr14:105019169..105021029,2	K562	blood:
40	chr14:104567251..104568942-chr14:105029276..105031338,2	MCF-7	breast:
41	chr14:104970856..104973249-chr14:104973750..104975351,2	MCF-7	breast:
42	chr14:104544184..104544985-chr14:105029856..105031015,7	MCF-7	breast:
43	chr14:104609989..104612052-chr14:105021237..105023581,2	MCF-7	breast:
44	chr14:105017921..105022172-chr14:105022189..105024897,5	MCF-7	breast:
45	chr14:104970856..104973249-chr14:104973750..104975351,2	MCF-7	breast:
46	chr14:105006694..105010475-chr14:105012280..105015827,3	MCF-7	breast:
47	chr14:105029275..105030973-chr14:105053381..105055372,2	MCF-7	breast:
48	chr14:104989297..104991322-chr14:104992411..104994539,2	MCF-7	breast:
49	chr14:104602607..104605303-chr14:105029346..105032032,3	MCF-7	breast:
50	chr14:105032385..105034173-chr14:105061495..105063938,2	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TMEM179-5	chr14:104975962-104978198	NONHSAT040260
2	lnc-C14orf180-3	chr14:104993418-104993777	expReg_chr14_7636_+

No data

Variant related genes	Relation type
ENSG00000258748	chromatin interactions
ENSG00000066735	chromatin interactions
ENSG00000225595	chromatin interactions

Extended variants
information (count: 2981 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:2981 , 50 per page) page: 1 2 3 4 5 6 7 ... 60

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181800625	chr14:104969068-104969069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs73354090	chr14:104969096-104969097	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs141330229	chr14:104969148-104969149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs78650361	chr14:104969154-104969155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs143715009	chr14:104969157-104969158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs112456084	chr14:104969169-104969170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs576705280	chr14:104969175-104969176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs146808457	chr14:104969215-104969216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs562157616	chr14:104969230-104969231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs144888758	chr14:104969232-104969233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs572354256	chr14:104969266-104969267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs541397946	chr14:104969282-104969283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs115752080	chr14:104969311-104969312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs116079082	chr14:104969317-104969318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs567901722	chr14:104969322-104969323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs550028797	chr14:104969387-104969388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs7149763	chr14:104969416-104969417	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs529228484	chr14:104969482-104969483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs140595053	chr14:104969502-104969503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs565924348	chr14:104969512-104969513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs566464209	chr14:104969540-104969541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs534335883	chr14:104969551-104969552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs550933205	chr14:104969559-104969560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs538702417	chr14:104969561-104969562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs558373867	chr14:104969563-104969564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs186773221	chr14:104969673-104969674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs556377651	chr14:104969709-104969710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs150412094	chr14:104969733-104969734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs560869028	chr14:104969744-104969745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs535996417	chr14:104969747-104969748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs371189582	chr14:104969788-104969789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs138141547	chr14:104969795-104969796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs555059611	chr14:104969818-104969819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs541461400	chr14:104969833-104969834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs564454957	chr14:104969843-104969844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs149124480	chr14:104969883-104969884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs386781039	chr14:104969887-104969888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs61997155	chr14:104969888-104969889	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs529081860	chr14:104969894-104969895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs375631955	chr14:104969916-104969917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs190412143	chr14:104969954-104969955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs573689541	chr14:104969985-104969986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs143160402	chr14:104969999-104970000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs528348717	chr14:104970006-104970007	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs78551670	chr14:104970016-104970017	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs369202814	chr14:104970066-104970067	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs138843928	chr14:104970073-104970074	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs530564130	chr14:104970143-104970144	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs142790453	chr14:104970164-104970165	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs567315733	chr14:104970198-104970199	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:106)

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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Ependymoma	20639864	CNVD
Schizophrenia	23813976	CNVD
Breast cancer	20932292	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
T-cell lymphomas	22341440	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Ovarian cancer	21781307	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:447 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:104966600-104970600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr14:104970000-104972000	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
3	chr14:104970400-104970800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr14:104970600-104970800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr14:104970600-104971000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr14:104970600-104971000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr14:104970800-104971000	Flanking Bivalent TSS/Enh	Esophagus	oesophagus
8	chr14:104970800-104971400	Enhancers	Spleen	Spleen
9	chr14:104971000-104972200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr14:104971200-104971800	Enhancers	Brain Germinal Matrix	brain
11	chr14:104971600-104971800	Enhancers	Fetal Brain Male	brain
12	chr14:104971800-104972000	Bivalent Enhancer	Brain Dorsolateral Prefrontal Cortex	brain
13	chr14:104971800-104972600	Weak transcription	Brain Germinal Matrix	brain
14	chr14:104971800-104973400	Weak transcription	Fetal Brain Male	brain
15	chr14:104972200-104972400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr14:104972200-104973400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr14:104972600-104972800	Enhancers	Brain Germinal Matrix	brain
18	chr14:104973400-104973800	Enhancers	Fetal Brain Male	brain
19	chr14:104973400-104976000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr14:104973800-104976000	Weak transcription	Fetal Brain Male	brain
21	chr14:104974200-104974400	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
22	chr14:104976000-104977600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr14:104976000-104982000	Enhancers	Fetal Brain Male	brain
24	chr14:104976200-104976600	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
25	chr14:104976200-104981000	Enhancers	Brain Germinal Matrix	brain
26	chr14:104976400-104981800	Enhancers	Fetal Brain Female	brain
27	chr14:104976600-104977800	Enhancers	Esophagus	oesophagus
28	chr14:104976600-104978600	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr14:104976800-104977000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
30	chr14:104976800-104977200	Enhancers	Brain Cingulate Gyrus	brain
31	chr14:104976800-104977400	Enhancers	Brain Hippocampus Middle	brain
32	chr14:104976800-104977600	Enhancers	Brain Angular Gyrus	brain
33	chr14:104976800-104977800	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
34	chr14:104976800-104977800	Enhancers	Brain Substantia Nigra	brain
35	chr14:104977000-104977600	Enhancers	Skeletal Muscle Male	skeletal muscle
36	chr14:104977000-104977800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr14:104977000-104977800	Enhancers	Brain Anterior Caudate	brain
38	chr14:104977000-104977800	Enhancers	Skeletal Muscle Female	skeletal muscle
39	chr14:104977000-104977800	Bivalent Enhancer	NHEK	skin
40	chr14:104977000-104978000	Enhancers	Brain Inferior Temporal Lobe	brain
41	chr14:104977200-104977400	Flanking Active TSS	Brain Cingulate Gyrus	brain
42	chr14:104977200-104977600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr14:104977200-104977600	Bivalent Enhancer	HMEC	breast
44	chr14:104977400-104977600	Enhancers	Brain Cingulate Gyrus	brain
45	chr14:104977400-104977600	Flanking Active TSS	Brain Hippocampus Middle	brain
46	chr14:104977400-104977600	Bivalent Enhancer	Fetal Muscle Leg	muscle
47	chr14:104977600-104977800	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr14:104977600-104977800	Flanking Active TSS	Brain Cingulate Gyrus	brain
49	chr14:104977600-104977800	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
50	chr14:104977600-104977800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle

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