Variant report

Variant	nsv84708
Chromosome Location	chr14:72204904-72209070
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:72206482..72209426-chr14:72216322..72219275,3	MCF-7	breast:
2	chr14:72206307..72208849-chr14:72212607..72215390,3	K562	blood:
3	chr14:72191378..72193291-chr14:72204518..72207982,3	MCF-7	breast:
4	chr14:72201335..72203347-chr14:72205708..72208786,4	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RGS6-3	chr14:72207055-72207926	NONHSAT037642

Extended variants
information (count: 156 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:156 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs376750341	chr14:72204904-72204905	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs371069377	chr14:72204924-72204925	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs375706746	chr14:72204936-72204937	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs186385999	chr14:72204946-72204947	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs112111796	chr14:72204953-72204954	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs375954174	chr14:72205034-72205035	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs191129786	chr14:72205050-72205051	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs566140900	chr14:72205142-72205143	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs369589170	chr14:72205143-72205144	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs183837908	chr14:72205148-72205149	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs558418146	chr14:72205165-72205166	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs117914791	chr14:72205214-72205215	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs115927650	chr14:72205215-72205216	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs187324083	chr14:72205219-72205220	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs192528281	chr14:72205262-72205263	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs542638644	chr14:72205294-72205295	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs561673424	chr14:72205299-72205300	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs528735031	chr14:72205302-72205303	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs10137642	chr14:72205321-72205322	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs376989774	chr14:72205363-72205364	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs76027056	chr14:72205385-72205386	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs138244016	chr14:72205401-72205402	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs34227222	chr14:72205481-72205482	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs550292590	chr14:72205508-72205509	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs371291087	chr14:72205534-72205535	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs568597833	chr14:72205581-72205582	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs535887125	chr14:72205600-72205601	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs542401609	chr14:72205616-72205617	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs566759820	chr14:72205660-72205661	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs554267952	chr14:72205663-72205664	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs371544949	chr14:72205702-72205703	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs375981473	chr14:72205714-72205715	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs369265058	chr14:72205764-72205765	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs558730678	chr14:72205776-72205777	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs373034027	chr14:72205804-72205805	Enhancers Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs570631634	chr14:72205807-72205808	Enhancers Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs538016558	chr14:72205808-72205809	Enhancers Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs557522549	chr14:72205818-72205819	Enhancers Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs142265143	chr14:72205824-72205825	Enhancers Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs374830913	chr14:72205836-72205837	Enhancers Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs144388709	chr14:72205854-72205855	Enhancers Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs369620224	chr14:72205875-72205876	Enhancers Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs554627052	chr14:72205913-72205914	Enhancers Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs146434601	chr14:72205924-72205925	Enhancers Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs540545432	chr14:72205925-72205926	Enhancers Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs186726855	chr14:72205969-72205970	Enhancers Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs34246272	chr14:72205976-72205977	Enhancers Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs532604078	chr14:72205997-72205998	Enhancers Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs371724165	chr14:72206004-72206005	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs572599815	chr14:72206007-72206008	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

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
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	22032731	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Ovarian cancer	21720365	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Neuroblastoma	18923191	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Barrett''s syndrome	19417022	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	17133270	CNVD
Basal cell lymphoma	17053054	CNVD
cataract	16735990	CNVD
Neuroblastoma	20406844	CNVD
Hepatocellular carcinoma	16750200	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Multiple myeloma	17550852	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Glioblastoma multiforme	21922591	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	17426248	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:263 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:72182200-72207400	Strong transcription	GM12878-XiMat	blood
2	chr14:72185800-72206200	Strong transcription	Primary B cells from peripheral blood	blood
3	chr14:72187600-72206200	Strong transcription	Dnd41	blood
4	chr14:72187600-72207600	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr14:72187800-72206200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr14:72188200-72206400	Strong transcription	Primary T cells from cord blood	blood
7	chr14:72188600-72206000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr14:72188800-72205800	Strong transcription	Fetal Intestine Large	intestine
9	chr14:72188800-72207600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr14:72189800-72205800	Strong transcription	Fetal Intestine Small	intestine
11	chr14:72189800-72206000	Strong transcription	Duodenum Mucosa	Duodenum
12	chr14:72189800-72206000	Strong transcription	Spleen	Spleen
13	chr14:72189800-72206600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr14:72189800-72206800	Strong transcription	Primary neutrophils fromperipheralblood	blood
15	chr14:72189800-72206800	Strong transcription	Primary B cells from cord blood	blood
16	chr14:72190000-72206000	Strong transcription	Primary T helper cells PMA-I stimulated	--
17	chr14:72190000-72206000	Strong transcription	Primary T helper cells fromperipheralblood	blood
18	chr14:72190200-72206000	Strong transcription	Placenta	Placenta
19	chr14:72190600-72214200	Weak transcription	K562	blood
20	chr14:72191400-72206000	Strong transcription	Liver	Liver
21	chr14:72191600-72206000	Strong transcription	Gastric	stomach
22	chr14:72191600-72206000	Strong transcription	Pancreas	Pancrea
23	chr14:72193000-72207200	Strong transcription	Primary monocytes fromperipheralblood	blood
24	chr14:72194600-72214800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr14:72195000-72205400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr14:72195000-72206400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr14:72195200-72205600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
28	chr14:72195200-72206000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr14:72195200-72206000	Strong transcription	Sigmoid Colon	Sigmoid Colon
30	chr14:72195200-72206600	Strong transcription	Thymus	Thymus
31	chr14:72195400-72206000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr14:72196000-72205800	Strong transcription	Rectal Mucosa Donor 29	rectum
33	chr14:72196000-72206000	Strong transcription	Primary T cells fromperipheralblood	blood
34	chr14:72196000-72206000	Strong transcription	Duodenum Smooth Muscle	Duodenum
35	chr14:72196000-72206000	Strong transcription	Fetal Thymus	thymus
36	chr14:72196000-72206000	Strong transcription	Lung	lung
37	chr14:72196200-72205600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr14:72196200-72205600	Strong transcription	NHEK	skin
39	chr14:72196200-72206000	Strong transcription	HUES48 Cell Line	embryonic stem cell
40	chr14:72196200-72206000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr14:72196200-72206000	Strong transcription	Rectal Mucosa Donor 31	rectum
42	chr14:72196200-72206000	Strong transcription	Stomach Smooth Muscle	stomach
43	chr14:72196400-72205800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
44	chr14:72196400-72205800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr14:72196600-72206000	Strong transcription	H1 Cell Line	embryonic stem cell
46	chr14:72197200-72206600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr14:72200200-72205200	Strong transcription	Adipose Nuclei	Adipose
48	chr14:72200400-72205600	Weak transcription	Placenta Amnion	Placenta Amnion
49	chr14:72200400-72206000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr14:72200400-72206400	Strong transcription	Rectal Smooth Muscle	rectum

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