Variant report

Variant	nsv902030
Chromosome Location	chr14:67000504-67036750
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:67013560..67014177-chr16:87123245..87123883,2	MCF-7	breast:
2	chr14:66998273..67000951-chr14:67001181..67003201,2	MCF-7	breast:
3	chr14:66998273..67000951-chr14:67001181..67003201,2	MCF-7	breast:
4	chr14:66979852..66981724-chr14:67004183..67006810,2	K562	blood:
5	chr14:66975009..66976777-chr14:67006452..67008690,2	MCF-7	breast:
6	chr14:66972976..66974827-chr14:67023715..67025851,2	MCF-7	breast:
7	chr14:66974208..66976195-chr14:67036443..67039003,2	MCF-7	breast:
8	chr14:66973238..66976174-chr14:67016237..67019038,2	MCF-7	breast:
9	chr14:66961968..66962547-chr14:67034432..67035854,3	MCF-7	breast:
10	chr14:66972704..66976384-chr14:67000982..67004211,4	MCF-7	breast:
11	chr14:67031416..67034033-chr14:67041598..67043348,2	MCF-7	breast:
12	chr14:66869840..66870579-chr14:67035035..67035552,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000258561	chromatin interactions
ENSG00000171723	chromatin interactions

Extended variants
information (count: 1390 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:1390 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7156246	chr14:67000504-67000505	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs571373201	chr14:67000524-67000525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs533835587	chr14:67000526-67000527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs553749813	chr14:67000536-67000537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs111611881	chr14:67000540-67000541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs374694270	chr14:67000552-67000553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs146696460	chr14:67000599-67000600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs555829567	chr14:67000646-67000647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs371514527	chr14:67000658-67000659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs575533437	chr14:67000659-67000660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs544407044	chr14:67000678-67000679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs564301486	chr14:67000699-67000700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs371364853	chr14:67000700-67000701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs185769306	chr14:67000701-67000702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs12436714	chr14:67000702-67000703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs577731641	chr14:67000769-67000770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs540302465	chr14:67000840-67000841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs35469588	chr14:67000913-67000914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs560612682	chr14:67000931-67000932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs114193670	chr14:67000933-67000934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs113522363	chr14:67000956-67000957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs543004071	chr14:67001027-67001028	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs562642089	chr14:67001035-67001036	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs531595163	chr14:67001062-67001063	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs565329786	chr14:67001107-67001108	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs551616139	chr14:67001116-67001117	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs535113348	chr14:67001123-67001124	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs202037468	chr14:67001177-67001178	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs571437082	chr14:67001178-67001179	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs553403027	chr14:67001180-67001181	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs562585081	chr14:67001228-67001229	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs376346288	chr14:67001229-67001230	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs112923915	chr14:67001231-67001232	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs190823998	chr14:67001244-67001245	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs567348324	chr14:67001272-67001273	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs182069657	chr14:67001283-67001284	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs556081291	chr14:67001378-67001379	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs186004294	chr14:67001408-67001409	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs538115658	chr14:67001458-67001459	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs144010990	chr14:67001463-67001464	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs557565448	chr14:67001548-67001549	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs577846331	chr14:67001568-67001569	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs146418183	chr14:67001571-67001572	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs140630850	chr14:67001617-67001618	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs574031085	chr14:67001628-67001629	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs190418230	chr14:67001672-67001673	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs150488556	chr14:67001696-67001697	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs7142097	chr14:67001706-67001707	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs545347712	chr14:67001709-67001710	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs565159943	chr14:67001733-67001734	Weak transcription	Chromatin interactive region	2 gene(s)	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
Cancer	17440070	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Acute myeloid leukemia	21251322	CNVD
early-passage human iPS cells	21368824	CNVD
Breast cancer	22522925	CNVD
cataract	16735990	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:66995600-67003600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr14:66997800-67014400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr14:66998000-67005800	Weak transcription	Left Ventricle	heart
4	chr14:66998000-67009600	Weak transcription	Psoas Muscle	Psoas
5	chr14:67002200-67002600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr14:67003600-67004000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
7	chr14:67004000-67005600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr14:67004400-67004600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
9	chr14:67004600-67004800	Enhancers	Right Atrium	heart
10	chr14:67004600-67005600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr14:67004800-67006800	Weak transcription	Right Atrium	heart
12	chr14:67005000-67006200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
13	chr14:67005200-67005800	Weak transcription	Liver	Liver
14	chr14:67005200-67005800	Enhancers	Dnd41	blood
15	chr14:67005400-67006000	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr14:67005400-67006200	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr14:67005600-67006000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
18	chr14:67005600-67006000	Enhancers	GM12878-XiMat	blood
19	chr14:67005600-67006600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
20	chr14:67005600-67006600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
21	chr14:67005600-67007000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
22	chr14:67005800-67006000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr14:67005800-67006000	Enhancers	Liver	Liver
24	chr14:67005800-67006200	Enhancers	Primary T helper naive cells from peripheral blood	blood
25	chr14:67005800-67006200	Enhancers	Brain Cingulate Gyrus	brain
26	chr14:67005800-67006400	Flanking Active TSS	Dnd41	blood
27	chr14:67005800-67007000	Enhancers	Left Ventricle	heart
28	chr14:67005800-67007200	Enhancers	Brain Hippocampus Middle	brain
29	chr14:67005800-67007200	Enhancers	Brain Inferior Temporal Lobe	brain
30	chr14:67005800-67007200	Enhancers	Brain Substantia Nigra	brain
31	chr14:67006000-67006200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr14:67006000-67006800	Weak transcription	Liver	Liver
33	chr14:67006000-67010400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr14:67006200-67006600	Weak transcription	Brain Cingulate Gyrus	brain
35	chr14:67006200-67007200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
36	chr14:67006400-67007000	Enhancers	Dnd41	blood
37	chr14:67006400-67007200	Enhancers	Brain Anterior Caudate	brain
38	chr14:67006600-67007200	Enhancers	Brain Cingulate Gyrus	brain
39	chr14:67006800-67007200	Enhancers	Right Atrium	heart
40	chr14:67006800-67007200	Enhancers	Right Ventricle	heart
41	chr14:67006800-67008000	Enhancers	Liver	Liver
42	chr14:67007000-67007200	Enhancers	Skeletal Muscle Male	skeletal muscle
43	chr14:67007000-67009800	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr14:67007200-67008200	Weak transcription	Brain Hippocampus Middle	brain
45	chr14:67007200-67008200	Weak transcription	Brain Substantia Nigra	brain
46	chr14:67007200-67015800	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr14:67008000-67009800	Weak transcription	Liver	Liver
48	chr14:67008400-67008600	Enhancers	Brain Hippocampus Middle	brain
49	chr14:67008400-67008600	Enhancers	Brain Substantia Nigra	brain
50	chr14:67009200-67009800	Enhancers	Skeletal Muscle Male	skeletal muscle

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