Variant report

Variant	esv275293
Chromosome Location	chr14:71151777-71155720
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:71150935..71153106-chr14:71165634..71167400,2	MCF-7	breast:
2	chr14:71149455..71152082-chr14:71275817..71278072,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000259153	chromatin interactions
ENSG00000006432	chromatin interactions

Extended variants
information (count: 142 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:142 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11845258	chr14:71151777-71151778	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	mRNA abundance
2	rs527613738	chr14:71151789-71151790	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs34560703	chr14:71151838-71151839	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs552235006	chr14:71151855-71151856	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs571713308	chr14:71151864-71151865	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs113525862	chr14:71151889-71151890	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs371660247	chr14:71151976-71151977	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs76840694	chr14:71152012-71152013	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs557448728	chr14:71152021-71152022	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs561556205	chr14:71152093-71152094	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs186151966	chr14:71152156-71152157	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs555172672	chr14:71152170-71152171	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs191071268	chr14:71152179-71152180	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs182639303	chr14:71152196-71152197	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs34953768	chr14:71152305-71152306	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs570549469	chr14:71152316-71152317	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs185811206	chr14:71152352-71152353	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs150669082	chr14:71152354-71152355	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs537846765	chr14:71152358-71152359	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs576382962	chr14:71152370-71152371	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs190669743	chr14:71152372-71152373	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs183233635	chr14:71152385-71152386	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs529772103	chr14:71152392-71152393	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs541677581	chr14:71152405-71152406	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs7152071	chr14:71152433-71152434	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs543959349	chr14:71152434-71152435	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs188604193	chr14:71152435-71152436	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs570753028	chr14:71152546-71152547	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs78254065	chr14:71152603-71152604	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs115257220	chr14:71152626-71152627	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs117835271	chr14:71152650-71152651	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs569275448	chr14:71152656-71152657	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs536717875	chr14:71152708-71152709	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs536064512	chr14:71152738-71152739	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs114091815	chr14:71152755-71152756	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs567007224	chr14:71152776-71152777	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs534123108	chr14:71152823-71152824	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs376963170	chr14:71152916-71152917	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs558862329	chr14:71152952-71152953	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs368273040	chr14:71152977-71152978	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs577104953	chr14:71152982-71152983	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs554381390	chr14:71153006-71153007	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs193267358	chr14:71153044-71153045	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs556093847	chr14:71153047-71153048	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs574461497	chr14:71153112-71153113	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs540363791	chr14:71153118-71153119	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs563646016	chr14:71153121-71153122	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs138793787	chr14:71153203-71153204	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs76149472	chr14:71153208-71153209	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs572247096	chr14:71153222-71153223	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	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:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:71133200-71173000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr14:71134600-71158600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr14:71139000-71152200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr14:71139200-71151800	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr14:71139200-71152200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr14:71140200-71152600	Weak transcription	Brain Germinal Matrix	brain
7	chr14:71140400-71151800	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr14:71140600-71152200	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr14:71141000-71160800	Weak transcription	Primary T cells from cord blood	blood
10	chr14:71141400-71152000	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr14:71142800-71153600	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr14:71143000-71152000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr14:71143000-71152200	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr14:71143000-71177800	Weak transcription	Primary B cells from cord blood	blood
15	chr14:71143200-71152600	Weak transcription	Fetal Brain Female	brain
16	chr14:71143400-71152200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr14:71144400-71152000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr14:71144600-71152000	Weak transcription	HSMMtube	muscle
19	chr14:71151400-71153000	Enhancers	NHEK	skin
20	chr14:71151400-71154600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr14:71151800-71154600	Enhancers	H9 Cell Line	embryonic stem cell
22	chr14:71152000-71153000	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr14:71152000-71153000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr14:71152000-71153000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr14:71152000-71153200	Enhancers	HSMMtube	muscle
26	chr14:71152000-71154000	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr14:71152000-71154600	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr14:71152200-71152600	Enhancers	Fetal Brain Male	brain
29	chr14:71152200-71152800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr14:71152200-71153000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr14:71152200-71153200	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr14:71152200-71153400	Enhancers	H1 Cell Line	embryonic stem cell
33	chr14:71152200-71153400	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr14:71152200-71153400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr14:71152200-71154400	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr14:71152200-71154600	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr14:71152200-71154600	Enhancers	iPS-20b Cell Line	embryonic stem cell
38	chr14:71152600-71153200	Enhancers	Brain Germinal Matrix	brain
39	chr14:71152800-71153000	Enhancers	Fetal Brain Female	brain
40	chr14:71152800-71154200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr14:71153200-71157000	Weak transcription	Brain Germinal Matrix	brain
42	chr14:71153400-71154200	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr14:71153400-71165200	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr14:71154000-71156800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr14:71154200-71154400	Enhancers	HUES6 Cell Line	embryonic stem cell
46	chr14:71154200-71154400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr14:71154200-71154600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr14:71154400-71156800	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr14:71154400-71165000	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr14:71154600-71156800	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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