Variant report

Variant	nsv427943
Chromosome Location	chr14:82436726-82615390
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:7)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:82456620..82457242-chr14:88082086..88082619,2	K562	blood:
2	chr14:82457970..82458550-chr14:83538022..83538739,2	MCF-7	breast:
3	chr14:82456704..82457268-chr14:86523010..86523977,3	MCF-7	breast:
4	chr14:82456729..82457343-chr14:83537985..83538492,2	MCF-7	breast:
5	chr14:82437453..82439133-chr14:82450697..82452745,2	K562	blood:
6	chr14:82475629..82476129-chr17:56716796..56717701,2	MCF-7	breast:
7	chr14:82437453..82439133-chr14:82450697..82452745,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TSHR-4	chr14:82496450-82496693	ENSG00000259035

No data

Extended variants
information (count: 2677 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:2677 , 50 per page) page: 1 2 3 4 5 6 7 ... 54

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs374034243	chr14:82436847-82436848	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs17116186	chr14:82436880-82436881	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs541681350	chr14:82436922-82436923	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs572813748	chr14:82436944-82436945	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs543025523	chr14:82436954-82436955	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs576168921	chr14:82436976-82436977	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs576427364	chr14:82436996-82436997	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs543907974	chr14:82437012-82437013	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs1212598	chr14:82437013-82437014	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs113200565	chr14:82437017-82437018	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs533151663	chr14:82437023-82437024	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs544845400	chr14:82437057-82437058	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs371853978	chr14:82437059-82437060	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs34569260	chr14:82437080-82437081	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs560000143	chr14:82437118-82437119	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs527610938	chr14:82437120-82437121	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs548542289	chr14:82437125-82437126	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs560953381	chr14:82437131-82437132	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs531267065	chr14:82437208-82437209	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs549850778	chr14:82437219-82437220	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs117828679	chr14:82437258-82437259	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs539210813	chr14:82437260-82437261	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs548042118	chr14:82437328-82437329	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs138869930	chr14:82437340-82437341	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs371965919	chr14:82437417-82437418	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs192874082	chr14:82437421-82437422	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs76927825	chr14:82437492-82437493	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs7141791	chr14:82437493-82437494	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs1201702	chr14:82437505-82437506	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs537099492	chr14:82437577-82437578	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs559003150	chr14:82437578-82437579	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs76986242	chr14:82437626-82437627	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs555933612	chr14:82437670-82437671	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs143817574	chr14:82437704-82437705	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs185263200	chr14:82437740-82437741	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs188536702	chr14:82437754-82437755	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs2484498	chr14:82437840-82437841	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs1198037	chr14:82437861-82437862	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs573616317	chr14:82437872-82437873	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs560674794	chr14:82437897-82437898	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs78632152	chr14:82437907-82437908	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs1213107	chr14:82437912-82437913	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs11625592	chr14:82437915-82437916	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs193110797	chr14:82437929-82437930	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs57037058	chr14:82437952-82437953	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs377075482	chr14:82437960-82437961	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs547979616	chr14:82437969-82437970	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs552554654	chr14:82438031-82438032	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs566288907	chr14:82438035-82438036	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs11845081	chr14:82438042-82438043	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
Autism	22495311	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
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Colorectal cancer	16272173	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
Malignant fibrous histiocytomas	21085701	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	17053054	CNVD
cataract	16735990	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	21922591	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	16608533	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Glioblastoma	21080181	CNVD
Gastric cancer	16891809	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Cancer	20164920	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:158 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:82436200-82438800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr14:82436400-82437000	Enhancers	H1 Cell Line	embryonic stem cell
3	chr14:82436400-82437800	Enhancers	iPS-20b Cell Line	embryonic stem cell
4	chr14:82436400-82438000	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr14:82436600-82437000	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr14:82436600-82437600	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr14:82436600-82437600	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr14:82436600-82438200	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr14:82436800-82437600	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr14:82436800-82438000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr14:82437000-82437200	Enhancers	Fetal Brain Male	brain
12	chr14:82437200-82439000	Weak transcription	Fetal Brain Male	brain
13	chr14:82438400-82439000	Enhancers	Fetal Brain Female	brain
14	chr14:82439000-82440000	Enhancers	Fetal Brain Male	brain
15	chr14:82439600-82440400	Enhancers	Skeletal Muscle Female	skeletal muscle
16	chr14:82440000-82440800	Weak transcription	Fetal Brain Male	brain
17	chr14:82440800-82441000	Enhancers	Fetal Brain Male	brain
18	chr14:82441000-82441800	Weak transcription	Fetal Brain Male	brain
19	chr14:82441800-82442000	Enhancers	Fetal Brain Male	brain
20	chr14:82444400-82445200	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr14:82444400-82445200	Enhancers	Fetal Intestine Small	intestine
22	chr14:82444800-82445200	Enhancers	Adipose Nuclei	Adipose
23	chr14:82445200-82446200	Weak transcription	Fetal Intestine Small	intestine
24	chr14:82446200-82448800	Enhancers	Fetal Intestine Small	intestine
25	chr14:82446400-82448400	Enhancers	Fetal Intestine Large	intestine
26	chr14:82447000-82447600	Enhancers	HepG2	liver
27	chr14:82447200-82447400	Enhancers	Duodenum Mucosa	Duodenum
28	chr14:82447200-82447600	Enhancers	Liver	Liver
29	chr14:82447200-82448200	Enhancers	Brain Cingulate Gyrus	brain
30	chr14:82447400-82447800	Enhancers	Brain Angular Gyrus	brain
31	chr14:82447400-82447800	Flanking Active TSS	Duodenum Mucosa	Duodenum
32	chr14:82447400-82447800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
33	chr14:82447400-82448400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr14:82447400-82448600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr14:82447400-82448600	Enhancers	Brain Inferior Temporal Lobe	brain
36	chr14:82447400-82448800	Enhancers	Brain Hippocampus Middle	brain
37	chr14:82447600-82448200	Enhancers	Brain Substantia Nigra	brain
38	chr14:82447600-82452200	Weak transcription	Liver	Liver
39	chr14:82447800-82448000	Enhancers	Duodenum Mucosa	Duodenum
40	chr14:82448400-82452200	Weak transcription	Fetal Intestine Large	intestine
41	chr14:82448800-82452000	Weak transcription	Fetal Intestine Small	intestine
42	chr14:82452000-82452800	Enhancers	Fetal Intestine Small	intestine
43	chr14:82452000-82452800	Enhancers	HepG2	liver
44	chr14:82452200-82452800	Enhancers	Liver	Liver
45	chr14:82452200-82453000	Enhancers	Fetal Intestine Large	intestine
46	chr14:82453000-82454000	Weak transcription	Fetal Intestine Large	intestine
47	chr14:82454000-82454200	Enhancers	Fetal Intestine Large	intestine
48	chr14:82455000-82455400	Enhancers	Monocytes-CD14+_RO01746	blood
49	chr14:82455200-82456000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr14:82455200-82456200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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