Variant report

Variant	nsv1054194
Chromosome Location	chr14:25946473-26015217
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:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:25988374..25990565-chr14:25991373..25993966,2	K562	blood:
2	chr14:25963550..25964066-chr14:26006789..26007495,2	MCF-7	breast:
3	chr14:25963550..25964066-chr14:26006789..26007495,2	MCF-7	breast:
4	chr14:25952737..25955349-chr14:25975365..25977860,2	MCF-7	breast:
5	chr14:25900451..25901381-chr14:26006324..26007622,8	MCF-7	breast:
6	chr14:25952737..25955349-chr14:25975365..25977860,2	MCF-7	breast:
7	chr14:25985962..25986726-chr14:26006664..26007701,6	MCF-7	breast:
8	chr14:25985816..25986399-chr14:26006944..26007693,2	MCF-7	breast:
9	chr14:25877124..25877885-chr14:26006730..26007345,2	MCF-7	breast:
10	chr14:25900430..25901287-chr14:26006795..26007730,5	MCF-7	breast:
11	chr14:25988374..25990565-chr14:25991373..25993966,2	K562	blood:
12	chr14:25985949..25986642-chr14:26290498..26291389,5	MCF-7	breast:
13	chr14:25880899..25882230-chr14:26006810..26007715,4	MCF-7	breast:
14	chr14:25985962..25986726-chr14:26006664..26007701,6	MCF-7	breast:
15	chr14:25985816..25986399-chr14:26006944..26007693,2	MCF-7	breast:

No data

Extended variants
information (count: 1035 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:1035 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531406086	chr14:25951200-25951201	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs541966260	chr14:25951206-25951207	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs116966266	chr14:25951211-25951212	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs181404739	chr14:25951227-25951228	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs375682295	chr14:25951267-25951268	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs569120240	chr14:25951288-25951289	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs546707934	chr14:25951319-25951320	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs566856942	chr14:25951339-25951340	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs113407396	chr14:25951350-25951351	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs374621736	chr14:25951354-25951355	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs569528261	chr14:25951357-25951358	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs137865588	chr14:25951436-25951437	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs548731565	chr14:25951449-25951450	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs141629896	chr14:25951450-25951451	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs150893299	chr14:25951479-25951480	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs533868165	chr14:25951560-25951561	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs186168541	chr14:25951561-25951562	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs112524480	chr14:25951575-25951576	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs8008352	chr14:25951581-25951582	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs191122106	chr14:25951616-25951617	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs182439735	chr14:25951656-25951657	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs187609257	chr14:25951664-25951665	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs190944822	chr14:25951671-25951672	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs561898902	chr14:25951692-25951693	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs574871788	chr14:25951707-25951708	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs183196126	chr14:25951724-25951725	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs187490948	chr14:25951743-25951744	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs34369790	chr14:25951800-25951801	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs149613043	chr14:25951817-25951818	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs190467141	chr14:25951846-25951847	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs147306541	chr14:25951928-25951929	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs74855814	chr14:25951968-25951969	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs183278661	chr14:25951977-25951978	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs568627078	chr14:25951979-25951980	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs76302550	chr14:25951988-25951989	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs528080495	chr14:25951999-25952000	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs570171696	chr14:25952060-25952061	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs374218718	chr14:25952119-25952120	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs187862290	chr14:25952122-25952123	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs61212071	chr14:25952135-25952136	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs368342319	chr14:25952136-25952137	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs386380933	chr14:25952146-25952147	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs397749406	chr14:25952147-25952148	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs192743733	chr14:25952174-25952175	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs576285460	chr14:25952206-25952207	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs115030072	chr14:25952230-25952231	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs557891569	chr14:25952244-25952245	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs368787293	chr14:25952248-25952249	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs561102744	chr14:25952260-25952261	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs572202973	chr14:25952263-25952264	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

Disease	PMID	Source
Cancer	20164920	CNVD
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
Acute lymphoblastic leukemia	20067559	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
Breast cancer	17899364	CNVD
Colorectal cancer	16774939	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	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
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	16272173	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Epilepsy	20736978	CNVD
Mental retardation	20736978	CNVD
severe speech impairment	20736978	CNVD
speech impairment	20736978	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Chronic myeloid leukemia	20724749	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Cancer	21183584	CNVD
Leukoplakia	24403051	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Breast cancer	21364760	CNVD
Chronic myeloid leukemia	16756668	CNVD
Sudden cardiac death	19188705	CNVD
Pilocytic astrocytoma	18670637	CNVD
Multiple myeloma	16616336	CNVD
Urothelial carcinoma	21177765	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:25951200-25952400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr14:25951400-25951600	Enhancers	Stomach Mucosa	stomach
3	chr14:25953000-25954800	Enhancers	Fetal Stomach	stomach
4	chr14:25954200-25954600	Enhancers	Colon Smooth Muscle	Colon
5	chr14:25954400-25954600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr14:25954400-25954800	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr14:25954800-25957800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr14:25957800-25958800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr14:25958200-25958600	Enhancers	Adipose Nuclei	Adipose
10	chr14:25958800-25961400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr14:25961400-25961800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr14:25963800-25964000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr14:25968600-25968800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr14:25974200-25974800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr14:25975200-25975800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr14:25976000-25976200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
17	chr14:25976200-25980800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr14:25985400-25987600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr14:25985600-25986000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr14:25985800-25987800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr14:25986000-25986200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr14:25986200-25987200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr14:25987200-25988200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr14:25987600-25988000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr14:25987800-25988200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr14:25988200-25988600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr14:25988400-25988800	Enhancers	Brain Germinal Matrix	brain
28	chr14:25988800-25989000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr14:25988800-25991400	Weak transcription	Brain Germinal Matrix	brain
30	chr14:25989400-25990400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr14:25989800-25990000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr14:25990400-25991000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr14:25990800-25991400	Enhancers	Cortex derived primary cultured neurospheres	brain
34	chr14:25990800-25991600	Enhancers	Colon Smooth Muscle	Colon
35	chr14:25991000-25991400	Enhancers	Brain Substantia Nigra	brain
36	chr14:25991000-25991600	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr14:25991200-25991600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr14:25991400-25992200	Enhancers	Brain Germinal Matrix	brain
39	chr14:25991400-25992400	Enhancers	Fetal Brain Male	brain
40	chr14:25991600-25992000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr14:25992000-25992600	Enhancers	iPS-18 Cell Line	embryonic stem cell
42	chr14:26005200-26005600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr14:26011200-26011400	Enhancers	Fetal Kidney	kidney
44	chr14:26011600-26012200	Weak transcription	Fetal Kidney	kidney
45	chr14:26012200-26012400	Enhancers	Fetal Kidney	kidney
46	chr14:26012400-26016800	Weak transcription	Fetal Kidney	kidney

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