Variant report

Variant	nsv902051
Chromosome Location	chr14:67233737-67274610
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:67273370..67275073-chr14:67291638..67294473,2	K562	blood:
2	chr14:67247462..67249948-chr14:67251250..67254048,2	MCF-7	breast:
3	chr14:67221145..67223857-chr14:67240535..67242119,2	K562	blood:
4	chr14:67249480..67250181-chr17:59494053..59494794,2	MCF-7	breast:
5	chr14:67247462..67249948-chr14:67251250..67254048,2	MCF-7	breast:

Extended variants
information (count: 1534 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:1534 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11845351	chr14:67233737-67233738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs566307948	chr14:67233757-67233758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs189097965	chr14:67233793-67233794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs375484030	chr14:67233796-67233797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs141119059	chr14:67233804-67233805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs551689740	chr14:67233825-67233826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs570947383	chr14:67233864-67233865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs148832269	chr14:67233909-67233910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs537466681	chr14:67233911-67233912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs181557052	chr14:67233918-67233919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs186741640	chr14:67233952-67233953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs535584312	chr14:67234026-67234027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs553677184	chr14:67234089-67234090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs571811097	chr14:67234113-67234114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs112817205	chr14:67234114-67234115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs572239329	chr14:67234147-67234148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs563955249	chr14:67234157-67234158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs76356976	chr14:67234159-67234160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs375844697	chr14:67234160-67234161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs538339052	chr14:67234180-67234181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs545757762	chr14:67234227-67234228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs35591237	chr14:67234239-67234240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs371064235	chr14:67234265-67234266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs191126782	chr14:67234276-67234277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs112227738	chr14:67234313-67234314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs201558154	chr14:67234339-67234340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs201235590	chr14:67234358-67234359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs562115938	chr14:67234413-67234414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs147112924	chr14:67234437-67234438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs17247792	chr14:67234457-67234458	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs536409168	chr14:67234485-67234486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs183141583	chr14:67234489-67234490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs61989618	chr14:67234522-67234523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs186054093	chr14:67234531-67234532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs570026546	chr14:67234603-67234604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs138503893	chr14:67234635-67234636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs547753604	chr14:67234671-67234672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs114011073	chr14:67234685-67234686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs10136226	chr14:67234686-67234687	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs79848343	chr14:67234697-67234698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs11158646	chr14:67234710-67234711	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs540192294	chr14:67234741-67234742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs141936325	chr14:67234821-67234822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs376323290	chr14:67234828-67234829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs558043633	chr14:67234858-67234859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs10148703	chr14:67234863-67234864	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs537389491	chr14:67234891-67234892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs555787432	chr14:67234906-67234907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs189543238	chr14:67234926-67234927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs34968354	chr14:67234929-67234930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

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
Colorectal cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Malignant peripheral nerve sheath tumor	18522746	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
Non-syndromic sensorineural hearing loss	21987784	CNVD
Acute myeloid leukemia	21251322	CNVD
cataract	16735990	CNVD
Neuroblastoma	20406844	CNVD
Autism	22495309	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21611746	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:67225400-67256400	Weak transcription	Pancreas	Pancrea
2	chr14:67232400-67244400	Weak transcription	Psoas Muscle	Psoas
3	chr14:67237600-67238400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr14:67237600-67258800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr14:67238000-67238200	Enhancers	Liver	Liver
6	chr14:67238200-67256400	Weak transcription	Liver	Liver
7	chr14:67239600-67240000	Enhancers	HUVEC	blood vessel
8	chr14:67239800-67240000	ZNF genes & repeats	Fetal Intestine Small	intestine
9	chr14:67240000-67254800	Weak transcription	Fetal Intestine Small	intestine
10	chr14:67242600-67256200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr14:67242800-67245600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr14:67244200-67249600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr14:67247400-67249800	Weak transcription	Left Ventricle	heart
14	chr14:67248400-67259000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr14:67248800-67251400	Weak transcription	Fetal Lung	lung
16	chr14:67248800-67251800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr14:67249000-67250200	Weak transcription	Duodenum Mucosa	Duodenum
18	chr14:67249600-67250200	Enhancers	HepG2	liver
19	chr14:67249600-67250600	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr14:67249800-67250400	Strong transcription	Left Ventricle	heart
21	chr14:67250200-67250400	ZNF genes & repeats	Duodenum Mucosa	Duodenum
22	chr14:67250400-67261000	Weak transcription	Left Ventricle	heart
23	chr14:67250600-67250800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr14:67250800-67266400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr14:67254800-67255600	ZNF genes & repeats	Fetal Intestine Small	intestine
26	chr14:67255600-67280000	Weak transcription	Gastric	stomach
27	chr14:67256200-67256600	ZNF genes & repeats	Ovary	ovary
28	chr14:67256400-67256600	ZNF genes & repeats	Liver	Liver
29	chr14:67256400-67256600	ZNF genes & repeats	Pancreas	Pancrea
30	chr14:67256600-67261000	Weak transcription	Pancreas	Pancrea
31	chr14:67256600-67262400	Weak transcription	Liver	Liver
32	chr14:67256600-67272600	Weak transcription	Ovary	ovary
33	chr14:67257000-67258000	ZNF genes & repeats	GM12878-XiMat	blood
34	chr14:67257600-67282000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr14:67258800-67259400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr14:67259000-67259400	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr14:67259400-67259800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr14:67259400-67260800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr14:67259800-67263800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr14:67260800-67261000	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr14:67261000-67261200	Enhancers	Left Ventricle	heart
42	chr14:67261000-67261200	ZNF genes & repeats	Pancreas	Pancrea
43	chr14:67261000-67280000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr14:67261200-67268400	Weak transcription	Pancreas	Pancrea
45	chr14:67262400-67263200	Strong transcription	Liver	Liver
46	chr14:67263200-67272400	Weak transcription	Liver	Liver
47	chr14:67267200-67280000	Weak transcription	Stomach Smooth Muscle	stomach
48	chr14:67267400-67280000	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr14:67268000-67268200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr14:67268200-67268400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell

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