Variant report

Variant	nsv9174
Chromosome Location	chr14:104352172-104362943
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:25)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:25 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:104342467..104345187-chr14:104355394..104358113,2	MCF-7	breast:
2	chr14:104336626..104338595-chr14:104355620..104357453,2	MCF-7	breast:
3	chr14:104354468..104357405-chr14:104359410..104362163,3	MCF-7	breast:
4	chr14:104343466..104345327-chr14:104362441..104364606,2	K562	blood:
5	chr14:104312594..104314828-chr14:104352032..104354856,2	MCF-7	breast:
6	chr14:104348563..104351528-chr14:104352651..104356401,4	K562	blood:
7	chr14:104313694..104314632-chr14:104354396..104355277,2	MCF-7	breast:
8	chr14:104335008..104337928-chr14:104351341..104353510,3	MCF-7	breast:
9	chr14:104332785..104335222-chr14:104358563..104360147,2	MCF-7	breast:
10	chr14:104311399..104315345-chr14:104362414..104366566,6	MCF-7	breast:
11	chr14:104343585..104349004-chr14:104350289..104354893,7	MCF-7	breast:
12	chr14:104159591..104160119-chr14:104354333..104355295,2	MCF-7	breast:
13	chr14:104354468..104357405-chr14:104359410..104362163,3	MCF-7	breast:
14	chr14:104346303..104349191-chr14:104358619..104360504,2	MCF-7	breast:
15	chr14:104347054..104348741-chr14:104350069..104352618,2	K562	blood:
16	chr14:104348563..104350260-chr14:104352651..104354424,2	K562	blood:
17	chr14:104272756..104274930-chr14:104362407..104364169,2	K562	blood:
18	chr14:104321542..104325039-chr14:104354434..104358481,6	MCF-7	breast:
19	chr14:104332802..104335861-chr14:104354361..104356131,3	MCF-7	breast:
20	chr14:104362395..104363093-chr16:28332093..28332593,2	HCT-116	colon:
21	chr14:104351018..104353647-chr14:104363104..104364953,3	MCF-7	breast:
22	chr14:104313013..104317291-chr14:104352199..104356564,5	MCF-7	breast:
23	chr14:104321174..104323261-chr14:104360889..104363923,3	MCF-7	breast:
24	chr14:104308464..104311195-chr14:104356027..104358587,2	MCF-7	breast:
25	chr14:104311422..104315545-chr14:104356597..104360992,6	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TDRD9-3	chr14:104358583-104361100	l_1075_NR_024396

No data

Variant related genes	Relation type
ENSG00000258534	chromatin interactions
ENSG00000088808	chromatin interactions
ENSG00000258735	chromatin interactions

Extended variants
information (count: 498 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:498 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs530603952	chr14:104352216-104352217	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs10634675	chr14:104352227-104352228	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs368581057	chr14:104352228-104352229	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs10678669	chr14:104352229-104352230	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs71305063	chr14:104352230-104352231	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs34533310	chr14:104352233-104352234	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs375186530	chr14:104352244-104352245	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs369351170	chr14:104352263-104352264	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs117674348	chr14:104352275-104352276	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs529512032	chr14:104352304-104352305	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs372927478	chr14:104352326-104352327	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs561900365	chr14:104352354-104352355	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs566361121	chr14:104352355-104352356	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs377219717	chr14:104352364-104352365	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs8009053	chr14:104352371-104352372	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs189067572	chr14:104352436-104352437	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs11622194	chr14:104352450-104352451	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs537310721	chr14:104352465-104352466	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs8009235	chr14:104352484-104352485	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs536026790	chr14:104352635-104352636	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs534785463	chr14:104352637-104352638	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs552937586	chr14:104352677-104352678	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs573067186	chr14:104352683-104352684	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs147998510	chr14:104352696-104352697	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs564179702	chr14:104352697-104352698	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs564862523	chr14:104352716-104352717	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs575333759	chr14:104352725-104352726	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs532548758	chr14:104352736-104352737	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs544276313	chr14:104352752-104352753	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs560973368	chr14:104352753-104352754	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs143442457	chr14:104352754-104352755	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs549534069	chr14:104352783-104352784	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs562663852	chr14:104352797-104352798	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs147128154	chr14:104352798-104352799	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs138550284	chr14:104352846-104352847	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs144141454	chr14:104352923-104352924	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs186312764	chr14:104352926-104352927	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs911338	chr14:104352928-104352929	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs550603983	chr14:104352935-104352936	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs73350581	chr14:104352999-104353000	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs536373630	chr14:104353028-104353029	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs147947530	chr14:104353039-104353040	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs368410805	chr14:104353059-104353060	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs377387012	chr14:104353062-104353063	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs572966727	chr14:104353136-104353137	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs538896424	chr14:104353140-104353141	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs150692867	chr14:104353141-104353142	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs575270457	chr14:104353149-104353150	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs139913926	chr14:104353154-104353155	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs371289712	chr14:104353237-104353238	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:96)

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
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
Breast cancer	21364760	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
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:295 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:104346600-104352600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr14:104346800-104352600	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr14:104347000-104362800	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr14:104347200-104362800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr14:104347400-104352200	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr14:104347400-104352600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr14:104347800-104353000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr14:104348400-104353000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr14:104348600-104355600	Weak transcription	Small Intestine	intestine
10	chr14:104349200-104352800	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr14:104349600-104355800	Weak transcription	Left Ventricle	heart
12	chr14:104349800-104352800	Weak transcription	Ovary	ovary
13	chr14:104349800-104353200	Weak transcription	Lung	lung
14	chr14:104349800-104353200	Weak transcription	Stomach Mucosa	stomach
15	chr14:104349800-104353400	Weak transcription	Esophagus	oesophagus
16	chr14:104349800-104353400	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr14:104349800-104353400	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr14:104349800-104353600	Weak transcription	Colonic Mucosa	Colon
19	chr14:104349800-104354000	Weak transcription	Right Ventricle	heart
20	chr14:104349800-104354800	Weak transcription	Gastric	stomach
21	chr14:104350000-104352400	Weak transcription	Fetal Lung	lung
22	chr14:104350000-104353000	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr14:104350000-104354000	Weak transcription	Duodenum Mucosa	Duodenum
24	chr14:104351200-104354600	Enhancers	Spleen	Spleen
25	chr14:104351200-104355200	Enhancers	Placenta	Placenta
26	chr14:104351200-104358200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr14:104351400-104355200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr14:104351600-104352600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr14:104351800-104353400	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr14:104351800-104353400	Enhancers	Liver	Liver
31	chr14:104351800-104353600	Enhancers	H1 Cell Line	embryonic stem cell
32	chr14:104351800-104355600	Enhancers	Fetal Intestine Small	intestine
33	chr14:104352000-104352400	Enhancers	HepG2	liver
34	chr14:104352000-104353200	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr14:104352000-104355600	Enhancers	Fetal Intestine Large	intestine
36	chr14:104352000-104359000	Enhancers	Pancreas	Pancrea
37	chr14:104352200-104352400	Enhancers	K562	blood
38	chr14:104352200-104352800	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr14:104352200-104354000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
40	chr14:104352400-104353400	Flanking Active TSS	HepG2	liver
41	chr14:104352400-104353600	Enhancers	Fetal Lung	lung
42	chr14:104352400-104353800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr14:104352600-104352800	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr14:104352600-104352800	Enhancers	iPS-20b Cell Line	embryonic stem cell
45	chr14:104352600-104352800	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr14:104352600-104352800	Enhancers	Fetal Brain Male	brain
47	chr14:104352600-104353000	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr14:104352600-104353200	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr14:104352600-104353200	Enhancers	Placenta Amnion	Placenta Amnion
50	chr14:104352600-104353400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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