Variant report

Variant	nsv902160
Chromosome Location	chr14:84694867-84730585
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:84698224..84700933-chr14:84701526..84704315,2	K562	blood:
2	chr1:184773101..184774074-chr14:84719732..84720658,2	MCF-7	breast:
3	chr14:84698224..84700933-chr14:84701526..84704315,2	K562	blood:
4	chr14:84694170..84695170-chr8:43092429..43093281,3	MCF-7	breast:

Extended variants
information (count: 750 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:750 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1462339	chr14:84694867-84694868	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs1462338	chr14:84694899-84694900	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs573927459	chr14:84694955-84694956	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs191482558	chr14:84694956-84694957	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs114331915	chr14:84695024-84695025	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs2927230	chr14:84695036-84695037	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs562072294	chr14:84695122-84695123	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs184363125	chr14:84695161-84695162	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs10140107	chr14:84695184-84695185	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs562394699	chr14:84695193-84695194	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs562783907	chr14:84695278-84695279	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs140199088	chr14:84695362-84695363	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs10151141	chr14:84695400-84695401	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs560435350	chr14:84695401-84695402	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs527944855	chr14:84695436-84695437	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs376094584	chr14:84695453-84695454	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs2615471	chr14:84695491-84695492	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs548713633	chr14:84695541-84695542	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs567249743	chr14:84695576-84695577	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs537583063	chr14:84695582-84695583	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs369658802	chr14:84695637-84695638	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs189860216	chr14:84695672-84695673	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs571493844	chr14:84695753-84695754	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs193277229	chr14:84695764-84695765	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs553972785	chr14:84695786-84695787	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs185480347	chr14:84695799-84695800	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs35857531	chr14:84695807-84695808	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs199943535	chr14:84695836-84695837	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs112949771	chr14:84695837-84695838	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs140518954	chr14:84695838-84695839	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs398057314	chr14:84695852-84695853	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs200824817	chr14:84695853-84695854	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs115475549	chr14:84695891-84695892	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs189604185	chr14:84695892-84695893	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs150295956	chr14:84695921-84695922	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs369171929	chr14:84695922-84695923	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs34390169	chr14:84695983-84695984	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs146436138	chr14:84696060-84696061	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs560274446	chr14:84696092-84696093	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs373083417	chr14:84696126-84696127	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs527981545	chr14:84696144-84696145	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs59321128	chr14:84696168-84696169	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs560755527	chr14:84696177-84696178	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs531313437	chr14:84696184-84696185	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs530995675	chr14:84696195-84696196	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs549483720	chr14:84696203-84696204	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs571377311	chr14:84696204-84696205	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs532202638	chr14:84696244-84696245	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs547615053	chr14:84696281-84696282	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs565876586	chr14:84696298-84696299	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

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
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
Breast cancer	17603634	CNVD
Glioblastoma	21080181	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Cancer	20164920	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:84694400-84696000	Enhancers	HUVEC	blood vessel
2	chr14:84694800-84695200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr14:84695000-84695400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr14:84695200-84695600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr14:84695800-84696400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr14:84699600-84700000	Enhancers	Placenta Amnion	Placenta Amnion
7	chr14:84700800-84701400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr14:84702600-84703200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr14:84702600-84703200	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr14:84703600-84705600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr14:84704600-84705000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr14:84707800-84708400	Enhancers	Stomach Mucosa	stomach
13	chr14:84709600-84710200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr14:84716000-84720600	Enhancers	HUVEC	blood vessel
15	chr14:84716400-84716800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr14:84716600-84717000	Enhancers	Fetal Kidney	kidney
17	chr14:84716600-84717400	Enhancers	Fetal Stomach	stomach
18	chr14:84716800-84720400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr14:84717000-84717400	Weak transcription	Fetal Kidney	kidney
20	chr14:84717200-84717400	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr14:84717200-84717600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr14:84717400-84717600	Enhancers	Fetal Kidney	kidney
23	chr14:84717400-84717600	Enhancers	Stomach Mucosa	stomach
24	chr14:84717400-84718400	Weak transcription	Fetal Stomach	stomach
25	chr14:84717400-84719600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr14:84717600-84718200	Enhancers	Fetal Lung	lung
27	chr14:84717600-84720600	Weak transcription	Fetal Kidney	kidney
28	chr14:84717600-84722400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr14:84718200-84718400	Enhancers	Stomach Mucosa	stomach
30	chr14:84718400-84718600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr14:84718400-84719800	Enhancers	Fetal Stomach	stomach
32	chr14:84718600-84718800	Enhancers	Fetal Muscle Leg	muscle
33	chr14:84718600-84719000	Enhancers	Ovary	ovary
34	chr14:84718600-84719400	Enhancers	Adipose Nuclei	Adipose
35	chr14:84718600-84719600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr14:84718600-84720000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr14:84718600-84720600	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr14:84718800-84719600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr14:84719000-84719200	Enhancers	HUES6 Cell Line	embryonic stem cell
40	chr14:84719200-84719400	Enhancers	iPS-15b Cell Line	embryonic stem cell
41	chr14:84719200-84719800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr14:84719200-84722000	Enhancers	HUES64 Cell Line	embryonic stem cell
43	chr14:84719400-84719800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr14:84719400-84719800	Enhancers	Placenta Amnion	Placenta Amnion
45	chr14:84719400-84720600	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr14:84719400-84720600	Weak transcription	Adipose Nuclei	Adipose
47	chr14:84719600-84719800	Enhancers	ES-I3 Cell Line	embryonic stem cell
48	chr14:84719600-84719800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr14:84719600-84720600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr14:84719600-84720600	Enhancers	HUES48 Cell Line	embryonic stem cell

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