Variant report

Variant	nsv1048504
Chromosome Location	chr14:67053046-67120741
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:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:67089010..67091228-chr14:67584048..67586914,2	MCF-7	breast:
2	chr14:66867855..66868382-chr14:67076673..67077298,2	MCF-7	breast:
3	chr14:67091167..67092058-chr14:67129135..67130325,3	MCF-7	breast:
4	chr14:66974755..66976344-chr14:67079161..67081755,2	MCF-7	breast:
5	chr14:67090929..67091438-chr14:67585122..67585749,2	MCF-7	breast:
6	chr14:67091099..67091710-chr14:67212729..67213799,3	MCF-7	breast:
7	chr14:67092710..67093625-chr20:56335759..56336366,2	MCF-7	breast:
8	chr14:67092344..67095051-chr14:67583275..67586009,2	MCF-7	breast:
9	chr14:67096231..67098087-chr14:67103759..67105557,2	MCF-7	breast:
10	chr14:67070723..67074270-chr14:67075283..67078895,3	MCF-7	breast:
11	chr14:67090630..67091537-chr14:67128804..67129400,2	MCF-7	breast:
12	chr14:67094105..67096992-chr14:67100475..67102216,2	MCF-7	breast:
13	chr14:67070723..67074270-chr14:67075283..67078895,3	MCF-7	breast:
14	chr14:66973750..66975677-chr14:67108046..67110117,2	MCF-7	breast:
15	chr14:67096231..67098087-chr14:67103759..67105557,2	MCF-7	breast:
16	chr14:67094105..67096992-chr14:67100475..67102216,2	MCF-7	breast:
17	chr14:66973300..66976249-chr14:67075152..67078057,2	MCF-7	breast:
18	chr14:67090731..67091375-chr14:68170944..68171444,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000258561	chromatin interactions
ENSG00000171723	chromatin interactions

Extended variants
information (count: 3079 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:3079 , 50 per page) page: 1 2 3 4 5 6 7 ... 62

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs551055629	chr14:67053052-67053053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs538658982	chr14:67053063-67053064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs570947437	chr14:67053083-67053084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs533533476	chr14:67053126-67053127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs550632792	chr14:67053132-67053133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs375273667	chr14:67053169-67053170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs112167571	chr14:67053173-67053174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs556042870	chr14:67053181-67053182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs368658295	chr14:67053213-67053214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs575898770	chr14:67053231-67053232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs180891444	chr14:67053246-67053247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs147349419	chr14:67053261-67053262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs186070636	chr14:67053265-67053266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs190541920	chr14:67053268-67053269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs560455084	chr14:67053277-67053278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs182319097	chr14:67053282-67053283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs186873368	chr14:67053297-67053298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs554787240	chr14:67053310-67053311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs542512303	chr14:67053312-67053313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs562384829	chr14:67053339-67053340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs531389899	chr14:67053340-67053341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs551092391	chr14:67053380-67053381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs564660300	chr14:67053497-67053498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs527346281	chr14:67053523-67053524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs190578653	chr14:67053592-67053593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs2319391	chr14:67053636-67053637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs567207127	chr14:67053674-67053675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs535812028	chr14:67053696-67053697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs567043202	chr14:67053705-67053706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs181406957	chr14:67053739-67053740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs549682674	chr14:67053770-67053771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs114709359	chr14:67053775-67053776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs375969872	chr14:67053806-67053807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs538460971	chr14:67053812-67053813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs139380908	chr14:67053844-67053845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs578039506	chr14:67053845-67053846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs534250727	chr14:67053874-67053875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs185495660	chr14:67053883-67053884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs371816862	chr14:67053916-67053917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs573970164	chr14:67053923-67053924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs143340287	chr14:67053926-67053927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs560742850	chr14:67053931-67053932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs562423399	chr14:67053969-67053970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs575904506	chr14:67054003-67054004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs150896214	chr14:67054028-67054029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs139365474	chr14:67054035-67054036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs527398182	chr14:67054092-67054093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs72724601	chr14:67054184-67054185	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs116520929	chr14:67054185-67054186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs189932332	chr14:67054215-67054216	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
Cancer	20164920	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Acute myeloid leukemia	21251322	CNVD
cataract	16735990	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Neuroblastoma	20406844	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Autism	22495309	CNVD

Chromatin state (count:372 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:67042000-67067000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr14:67054600-67054800	Enhancers	Gastric	stomach
3	chr14:67056600-67065800	Weak transcription	Gastric	stomach
4	chr14:67062000-67062400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr14:67062000-67063200	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr14:67062000-67063600	Weak transcription	Stomach Smooth Muscle	stomach
7	chr14:67062200-67062400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr14:67062200-67062600	ZNF genes & repeats	Spleen	Spleen
9	chr14:67062200-67063600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr14:67062200-67063800	ZNF genes & repeats	Pancreas	Pancrea
11	chr14:67062400-67062800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr14:67062400-67064000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
13	chr14:67062400-67064400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr14:67062400-67064600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr14:67062600-67063000	ZNF genes & repeats	Brain Germinal Matrix	brain
16	chr14:67062600-67064000	Weak transcription	Spleen	Spleen
17	chr14:67062800-67063000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr14:67063000-67063200	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr14:67063000-67063800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr14:67063200-67067000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr14:67063800-67067000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr14:67064000-67064600	ZNF genes & repeats	Spleen	Spleen
23	chr14:67064200-67064600	Enhancers	Right Ventricle	heart
24	chr14:67064400-67064800	Enhancers	HUVEC	blood vessel
25	chr14:67064600-67067200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr14:67067000-67067600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr14:67067000-67067800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr14:67067000-67067800	Enhancers	HMEC	breast
29	chr14:67067000-67068000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr14:67067000-67068800	Enhancers	NHEK	skin
31	chr14:67067000-67069600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr14:67067200-67067400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr14:67067200-67067600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr14:67067200-67067600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr14:67067200-67067600	Enhancers	Osteobl	bone
36	chr14:67067200-67067800	Enhancers	Hela-S3	cervix
37	chr14:67067600-67068600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr14:67068000-67068200	Flanking Active TSS	GM12878-XiMat	blood
39	chr14:67068000-67068400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr14:67068200-67068600	Enhancers	GM12878-XiMat	blood
41	chr14:67068400-67069400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr14:67068400-67069800	Enhancers	Liver	Liver
43	chr14:67068600-67068800	Flanking Active TSS	GM12878-XiMat	blood
44	chr14:67068600-67069000	Enhancers	Fetal Intestine Small	intestine
45	chr14:67068600-67069400	Enhancers	Duodenum Mucosa	Duodenum
46	chr14:67068800-67069000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr14:67068800-67069200	Active TSS	GM12878-XiMat	blood
48	chr14:67069000-67069400	Enhancers	Stomach Mucosa	stomach
49	chr14:67069200-67069400	Flanking Active TSS	GM12878-XiMat	blood
50	chr14:67069400-67069800	Enhancers	GM12878-XiMat	blood

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