Variant report

Variant	nsv456442
Chromosome Location	chr14:104742948-104802299
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:32)
LncRNA
region (count:8)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:32 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:104747853..104750552-chr14:104755271..104758240,2	MCF-7	breast:
2	chr14:104762292..104764129-chr14:104770564..104772247,2	MCF-7	breast:
3	chr14:104760654..104761549-chr14:104836417..104836978,2	MCF-7	breast:
4	chr14:104736178..104738016-chr14:104740822..104743657,2	MCF-7	breast:
5	chr14:104768093..104769693-chr14:104774112..104776117,2	MCF-7	breast:
6	chr14:104575830..104578279-chr14:104758176..104760324,2	MCF-7	breast:
7	chr14:104756389..104758056-chr14:104758774..104761093,2	MCF-7	breast:
8	chr14:104623348..104624079-chr14:104760154..104761091,2	MCF-7	breast:
9	chr14:104603795..104604545-chr14:104760161..104761480,5	MCF-7	breast:
10	chr14:104746362..104748538-chr14:104754609..104757132,3	MCF-7	breast:
11	chr14:104603676..104604415-chr14:104760235..104760804,2	MCF-7	breast:
12	chr14:104756422..104758689-chr14:104761247..104763793,2	MCF-7	breast:
13	chr14:104769312..104770225-chr14:104779545..104780136,2	MCF-7	breast:
14	chr14:104792609..104796456-chr14:104799877..104802767,4	MCF-7	breast:
15	chr14:104792609..104796456-chr14:104799877..104802767,4	MCF-7	breast:
16	chr14:104797978..104799771-chr14:104802827..104805475,2	MCF-7	breast:
17	chr14:104747853..104750552-chr14:104755271..104758240,2	MCF-7	breast:
18	chr14:104756389..104758056-chr14:104758774..104761093,2	MCF-7	breast:
19	chr14:104617545..104619541-chr14:104760413..104762032,2	MCF-7	breast:
20	chr14:104746362..104748538-chr14:104754609..104757132,3	MCF-7	breast:
21	chr14:104723993..104726216-chr14:104758223..104760086,2	K562	blood:
22	chr14:104762292..104764129-chr14:104770564..104772247,2	MCF-7	breast:
23	chr14:104747907..104749438-chr14:104962689..104965288,2	K562	blood:
24	chr14:104773211..104774845-chr14:104779810..104781331,2	MCF-7	breast:
25	chr14:104750633..104755093-chr14:104756730..104760416,4	MCF-7	breast:
26	chr14:104772029..104774740-chr14:104807798..104809607,2	K562	blood:
27	chr14:104756422..104758689-chr14:104761247..104763793,2	MCF-7	breast:
28	chr14:104773211..104774845-chr14:104779810..104781331,2	MCF-7	breast:
29	chr14:104768093..104769693-chr14:104774112..104776117,2	MCF-7	breast:
30	chr14:104750633..104755093-chr14:104756730..104760416,4	MCF-7	breast:
31	chr14:104769312..104770225-chr14:104779545..104780136,2	MCF-7	breast:
32	chr14:104651259..104651765-chr14:104760560..104761404,2	MCF-7	breast:

(count:8 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP11-614O9.3.1-3	chr14:104755902-104756432	NONHSAT040255
2	lnc-C14orf144-1	chr14:104753823-104753890	ENSG00000258913
3	lnc-C14orf144-1	chr14:104754171-104754406	ENSG00000258913
4	lnc-RP11-614O9.3.1-3	chr14:104753936-104755057	NONHSAT040254
5	lnc-C14orf144-1	chr14:104753823-104753890	NONHSAT040253
6	lnc-C14orf144-1	chr14:104747468-104747661	NONHSAT040253
7	lnc-C14orf144-1	chr14:104756355-104756432	NONHSAT040253
8	lnc-RP11-614O9.3.1-3	chr14:104755476-104756432	NONHSAT040254

No data

Variant related genes	Relation type
ENSG00000166183	chromatin interactions
ENSG00000258748	chromatin interactions

Extended variants
information (count: 3101 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:3101 , 50 per page) page: 1 2 3 4 5 6 7 ... 63

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4906431	chr14:104742948-104742949	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs190101319	chr14:104742950-104742951	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs550834497	chr14:104742957-104742958	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs561391776	chr14:104742974-104742975	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs8020241	chr14:104743029-104743030	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs199702619	chr14:104743047-104743048	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs12896371	chr14:104743049-104743050	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs200729213	chr14:104743051-104743052	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs201879810	chr14:104743053-104743054	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs150386635	chr14:104743054-104743055	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs11424613	chr14:104743056-104743057	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs200754996	chr14:104743059-104743060	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs61997095	chr14:104743064-104743065	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs112812590	chr14:104743069-104743070	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs543943486	chr14:104743073-104743074	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs10139753	chr14:104743103-104743104	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs11160796	chr14:104743127-104743128	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs562752812	chr14:104743138-104743139	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs546786955	chr14:104743145-104743146	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs28460140	chr14:104743149-104743150	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs71421287	chr14:104743153-104743154	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs566785321	chr14:104743185-104743186	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs538966133	chr14:104743248-104743249	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs138996493	chr14:104743337-104743338	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs143394306	chr14:104743469-104743470	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs74089328	chr14:104743473-104743474	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs540634614	chr14:104743481-104743482	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs537809205	chr14:104743512-104743513	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs554373506	chr14:104743544-104743545	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs186065170	chr14:104743567-104743568	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs557856017	chr14:104743574-104743575	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs144863979	chr14:104743582-104743583	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs553186361	chr14:104743615-104743616	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs573078848	chr14:104743616-104743617	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs545341081	chr14:104743647-104743648	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs112252914	chr14:104743648-104743649	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs575557700	chr14:104743684-104743685	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs148582976	chr14:104743697-104743698	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs189737695	chr14:104743751-104743752	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs141951137	chr14:104743808-104743809	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs530171759	chr14:104743809-104743810	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs4906432	chr14:104743850-104743851	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs560437771	chr14:104743918-104743919	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs556239045	chr14:104743945-104743946	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs375306841	chr14:104743947-104743948	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs552510617	chr14:104743948-104743949	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs77685004	chr14:104743961-104743962	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs537466963	chr14:104743966-104743967	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs548135935	chr14:104743988-104743989	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs567947545	chr14:104744006-104744007	Weak transcription Bivalent Enhancer Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

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
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:512 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:104734800-104745600	Weak transcription	Ovary	ovary
2	chr14:104736200-104746000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr14:104736800-104745600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr14:104736800-104754800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr14:104741400-104743400	Enhancers	Fetal Stomach	stomach
6	chr14:104741600-104743000	Enhancers	Rectal Mucosa Donor 31	rectum
7	chr14:104741600-104743000	Flanking Active TSS	Hela-S3	cervix
8	chr14:104741800-104751000	Enhancers	Fetal Brain Male	brain
9	chr14:104742200-104743000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr14:104742200-104743000	Enhancers	Rectal Mucosa Donor 29	rectum
11	chr14:104742200-104743400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr14:104742200-104743600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr14:104742600-104745800	Weak transcription	Colon Smooth Muscle	Colon
14	chr14:104742800-104743000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr14:104742800-104743000	Enhancers	NHEK	skin
16	chr14:104742800-104743600	Weak transcription	Fetal Brain Female	brain
17	chr14:104742800-104743800	Bivalent Enhancer	Fetal Muscle Leg	muscle
18	chr14:104742800-104744600	Weak transcription	Fetal Lung	lung
19	chr14:104743000-104743600	Enhancers	Hela-S3	cervix
20	chr14:104743000-104744400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
21	chr14:104743000-104747800	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr14:104743400-104745000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr14:104743600-104743800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr14:104743600-104744800	Weak transcription	Hela-S3	cervix
25	chr14:104743800-104744400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr14:104743800-104747200	Enhancers	Fetal Brain Female	brain
27	chr14:104744000-104744400	Bivalent Enhancer	Brain Germinal Matrix	brain
28	chr14:104744400-104744600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr14:104744400-104746600	Enhancers	Brain Germinal Matrix	brain
30	chr14:104744600-104746600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr14:104744600-104750000	Enhancers	Fetal Lung	lung
32	chr14:104744800-104745600	Enhancers	Hela-S3	cervix
33	chr14:104745000-104745600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr14:104745400-104746400	Bivalent Enhancer	Fetal Stomach	stomach
35	chr14:104745400-104751200	Enhancers	Fetal Muscle Leg	muscle
36	chr14:104745400-104752400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
37	chr14:104745600-104745800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
38	chr14:104745600-104745800	Flanking Active TSS	Hela-S3	cervix
39	chr14:104745600-104746000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
40	chr14:104745600-104746200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr14:104745600-104746400	Enhancers	Ovary	ovary
42	chr14:104745800-104746000	Enhancers	Colon Smooth Muscle	Colon
43	chr14:104745800-104746000	Enhancers	Hela-S3	cervix
44	chr14:104745800-104747800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr14:104746000-104746200	Flanking Active TSS	Hela-S3	cervix
46	chr14:104746000-104746800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr14:104746000-104750000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr14:104746200-104746400	Enhancers	Hela-S3	cervix
49	chr14:104746200-104747200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr14:104746400-104748000	Weak transcription	Spleen	Spleen

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