Variant report

Variant	nsv527969
Chromosome Location	chr14:71150421-71155984
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:71150935..71153106-chr14:71165634..71167400,2	MCF-7	breast:
2	chr14:71149455..71152082-chr14:71275817..71278072,2	MCF-7	breast:
3	chr14:71148463..71151197-chr14:71172492..71175402,2	MCF-7	breast:
4	chr14:71136609..71138138-chr14:71155904..71158810,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000006432	chromatin interactions
ENSG00000259153	chromatin interactions

Extended variants
information (count: 210 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:210 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4899366	chr14:71150421-71150422	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs578183982	chr14:71150435-71150436	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs78411370	chr14:71150457-71150458	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs563939686	chr14:71150512-71150513	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs531256170	chr14:71150522-71150523	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs148673427	chr14:71150539-71150540	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs370553728	chr14:71150548-71150549	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs536049406	chr14:71150569-71150570	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs376474018	chr14:71150585-71150586	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs189422270	chr14:71150637-71150638	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs10129386	chr14:71150638-71150639	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs191844978	chr14:71150640-71150641	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs566585403	chr14:71150667-71150668	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs147135072	chr14:71150724-71150725	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs139529500	chr14:71150743-71150744	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs533947738	chr14:71150781-71150782	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs7140937	chr14:71150803-71150804	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs568790281	chr14:71150807-71150808	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs112124998	chr14:71150840-71150841	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs7140652	chr14:71150847-71150848	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs573998524	chr14:71150902-71150903	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs184446173	chr14:71150919-71150920	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs11625517	chr14:71150929-71150930	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs578156764	chr14:71150957-71150958	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs17766230	chr14:71150972-71150973	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs7145154	chr14:71150989-71150990	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs542012199	chr14:71150997-71150998	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs189201869	chr14:71151017-71151018	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs10131858	chr14:71151044-71151045	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs561627291	chr14:71151076-71151077	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs181899604	chr14:71151133-71151134	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs187409149	chr14:71151150-71151151	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs572943737	chr14:71151159-71151160	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs532103727	chr14:71151160-71151161	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs78416284	chr14:71151168-71151169	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs568751879	chr14:71151175-71151176	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs568141884	chr14:71151189-71151190	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs190650782	chr14:71151220-71151221	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs564901925	chr14:71151224-71151225	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs374519955	chr14:71151235-71151236	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs531998247	chr14:71151246-71151247	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs115368001	chr14:71151275-71151276	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs142610425	chr14:71151289-71151290	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs28754621	chr14:71151290-71151291	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs534677278	chr14:71151337-71151338	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs556990666	chr14:71151369-71151370	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs12883254	chr14:71151407-71151408	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs571751107	chr14:71151408-71151409	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs114856887	chr14:71151433-71151434	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs9323544	chr14:71151478-71151479	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:68)

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	21364760	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
Epilepsy	20502679	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:71133200-71150600	Weak transcription	Pancreas	Pancrea
2	chr14:71133200-71151000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr14:71133200-71173000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr14:71134600-71158600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr14:71139000-71151000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr14:71139000-71152200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr14:71139200-71151800	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr14:71139200-71152200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr14:71140000-71151400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr14:71140200-71152600	Weak transcription	Brain Germinal Matrix	brain
11	chr14:71140400-71151800	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr14:71140600-71151400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr14:71140600-71152200	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr14:71141000-71160800	Weak transcription	Primary T cells from cord blood	blood
15	chr14:71141400-71152000	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr14:71142800-71153600	Weak transcription	Primary T helper cells fromperipheralblood	blood
17	chr14:71143000-71152000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr14:71143000-71152200	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr14:71143000-71177800	Weak transcription	Primary B cells from cord blood	blood
20	chr14:71143200-71152600	Weak transcription	Fetal Brain Female	brain
21	chr14:71143400-71152200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr14:71144400-71152000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr14:71144600-71152000	Weak transcription	HSMMtube	muscle
24	chr14:71150000-71151400	Enhancers	Liver	Liver
25	chr14:71150400-71151400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr14:71150600-71150800	Enhancers	Pancreas	Pancrea
27	chr14:71150600-71150800	Bivalent Enhancer	HepG2	liver
28	chr14:71150600-71151200	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr14:71150800-71151200	Enhancers	Hela-S3	cervix
30	chr14:71150800-71151200	Enhancers	HepG2	liver
31	chr14:71151400-71153000	Enhancers	NHEK	skin
32	chr14:71151400-71154600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr14:71151800-71154600	Enhancers	H9 Cell Line	embryonic stem cell
34	chr14:71152000-71153000	Enhancers	Cortex derived primary cultured neurospheres	brain
35	chr14:71152000-71153000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr14:71152000-71153000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr14:71152000-71153200	Enhancers	HSMMtube	muscle
38	chr14:71152000-71154000	Enhancers	iPS-18 Cell Line	embryonic stem cell
39	chr14:71152000-71154600	Enhancers	iPS-15b Cell Line	embryonic stem cell
40	chr14:71152200-71152600	Enhancers	Fetal Brain Male	brain
41	chr14:71152200-71152800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr14:71152200-71153000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr14:71152200-71153200	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr14:71152200-71153400	Enhancers	H1 Cell Line	embryonic stem cell
45	chr14:71152200-71153400	Enhancers	HUES6 Cell Line	embryonic stem cell
46	chr14:71152200-71153400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr14:71152200-71154400	Enhancers	HUES48 Cell Line	embryonic stem cell
48	chr14:71152200-71154600	Enhancers	HUES64 Cell Line	embryonic stem cell
49	chr14:71152200-71154600	Enhancers	iPS-20b Cell Line	embryonic stem cell
50	chr14:71152600-71153200	Enhancers	Brain Germinal Matrix	brain

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