Variant report

Variant	nsv1052677
Chromosome Location	chr14:67007414-67123639
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:31)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:31 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:67089010..67091228-chr14:67584048..67586914,2	MCF-7	breast:
2	chr14:66974208..66976195-chr14:67036443..67039003,2	MCF-7	breast:
3	chr14:67040072..67042253-chr14:67043564..67045326,2	MCF-7	breast:
4	chr14:67031416..67034033-chr14:67041598..67043348,2	MCF-7	breast:
5	chr14:67040072..67042253-chr14:67043564..67045326,2	MCF-7	breast:
6	chr14:67070723..67074270-chr14:67075283..67078895,3	MCF-7	breast:
7	chr14:66869840..66870579-chr14:67035035..67035552,2	MCF-7	breast:
8	chr14:67070723..67074270-chr14:67075283..67078895,3	MCF-7	breast:
9	chr14:67031416..67034033-chr14:67041598..67043348,2	MCF-7	breast:
10	chr14:67090630..67091537-chr14:67128804..67129400,2	MCF-7	breast:
11	chr14:67091099..67091710-chr14:67212729..67213799,3	MCF-7	breast:
12	chr14:67090731..67091375-chr14:68170944..68171444,2	MCF-7	breast:
13	chr14:66867855..66868382-chr14:67076673..67077298,2	MCF-7	breast:
14	chr14:67094105..67096992-chr14:67100475..67102216,2	MCF-7	breast:
15	chr14:67096231..67098087-chr14:67103759..67105557,2	MCF-7	breast:
16	chr14:66973750..66975677-chr14:67108046..67110117,2	MCF-7	breast:
17	chr14:67013560..67014177-chr16:87123245..87123883,2	MCF-7	breast:
18	chr14:66975009..66976777-chr14:67006452..67008690,2	MCF-7	breast:
19	chr14:66972976..66974827-chr14:67023715..67025851,2	MCF-7	breast:
20	chr14:67092710..67093625-chr20:56335759..56336366,2	MCF-7	breast:
21	chr14:66974755..66976344-chr14:67079161..67081755,2	MCF-7	breast:
22	chr14:67096231..67098087-chr14:67103759..67105557,2	MCF-7	breast:
23	chr14:67044325..67045049-chr8:77423954..77424779,2	MCF-7	breast:
24	chr14:67121584..67124061-chr14:67125684..67127245,2	MCF-7	breast:
25	chr14:67091167..67092058-chr14:67129135..67130325,3	MCF-7	breast:
26	chr14:67094105..67096992-chr14:67100475..67102216,2	MCF-7	breast:
27	chr14:67090929..67091438-chr14:67585122..67585749,2	MCF-7	breast:
28	chr14:66973238..66976174-chr14:67016237..67019038,2	MCF-7	breast:
29	chr14:66961968..66962547-chr14:67034432..67035854,3	MCF-7	breast:
30	chr14:66973300..66976249-chr14:67075152..67078057,2	MCF-7	breast:
31	chr14:67092344..67095051-chr14:67583275..67586009,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000171723	chromatin interactions
ENSG00000258561	chromatin interactions

Extended variants
information (count: 5006 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:5006 , 50 per page) page: 1 2 3 4 5 6 7 ... 101

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568983784	chr14:67007464-67007465	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs537908451	chr14:67007483-67007484	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs565241557	chr14:67007560-67007561	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs148283685	chr14:67007577-67007578	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs571188540	chr14:67007596-67007597	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs141835137	chr14:67007603-67007604	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs146251285	chr14:67007604-67007605	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs190871181	chr14:67007617-67007618	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs542025030	chr14:67007668-67007669	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs555504059	chr14:67007681-67007682	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs575357699	chr14:67007689-67007690	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs183197144	chr14:67007742-67007743	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs564227716	chr14:67007758-67007759	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs569718639	chr14:67007759-67007760	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs533215038	chr14:67007762-67007763	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs536776479	chr14:67007766-67007767	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs573719772	chr14:67007778-67007779	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs8018310	chr14:67007796-67007797	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs75804434	chr14:67007822-67007823	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs560191730	chr14:67007891-67007892	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs113372681	chr14:67007952-67007953	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs542645010	chr14:67007953-67007954	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs549215751	chr14:67008044-67008045	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs566044722	chr14:67008070-67008071	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs559042984	chr14:67008084-67008085	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs569098816	chr14:67008103-67008104	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs531517254	chr14:67008117-67008118	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs188342119	chr14:67008120-67008121	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs535076746	chr14:67008143-67008144	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs567392770	chr14:67008160-67008161	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs571316716	chr14:67008176-67008177	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs192982406	chr14:67008234-67008235	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs534818557	chr14:67008241-67008242	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs553686131	chr14:67008257-67008258	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs553255016	chr14:67008293-67008294	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs116976867	chr14:67008339-67008340	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs73279728	chr14:67008363-67008364	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs538998640	chr14:67008438-67008439	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs57661010	chr14:67008457-67008458	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs184663525	chr14:67008466-67008467	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs188158814	chr14:67008474-67008475	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs113409094	chr14:67008519-67008520	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs578011040	chr14:67008563-67008564	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs368377434	chr14:67008611-67008612	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs540277893	chr14:67008663-67008664	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs560505489	chr14:67008684-67008685	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs529197244	chr14:67008718-67008719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs117675799	chr14:67008751-67008752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs562760855	chr14:67008781-67008782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs542800102	chr14:67008810-67008811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

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	18451855	CNVD
Neuroblastoma	20406844	CNVD
Pancreatic cancer	17952125	CNVD
Autism	22495309	CNVD

Chromatin state (count:482 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:66997800-67014400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr14:66998000-67009600	Weak transcription	Psoas Muscle	Psoas
3	chr14:67006000-67010400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr14:67006800-67008000	Enhancers	Liver	Liver
5	chr14:67007000-67009800	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr14:67007200-67008200	Weak transcription	Brain Hippocampus Middle	brain
7	chr14:67007200-67008200	Weak transcription	Brain Substantia Nigra	brain
8	chr14:67007200-67015800	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr14:67008000-67009800	Weak transcription	Liver	Liver
10	chr14:67008400-67008600	Enhancers	Brain Hippocampus Middle	brain
11	chr14:67008400-67008600	Enhancers	Brain Substantia Nigra	brain
12	chr14:67009200-67009800	Enhancers	Skeletal Muscle Male	skeletal muscle
13	chr14:67009600-67011000	Enhancers	Psoas Muscle	Psoas
14	chr14:67009600-67011200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr14:67009800-67010200	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr14:67009800-67011000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr14:67009800-67011200	Enhancers	Liver	Liver
18	chr14:67010200-67010800	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr14:67010200-67011200	Enhancers	Skeletal Muscle Male	skeletal muscle
20	chr14:67011000-67011200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr14:67011000-67033600	Weak transcription	Psoas Muscle	Psoas
22	chr14:67011200-67013600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr14:67011200-67022000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr14:67011200-67033400	Weak transcription	Liver	Liver
25	chr14:67011400-67012600	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr14:67012600-67013400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
27	chr14:67013400-67017200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr14:67013600-67014800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr14:67014400-67014600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr14:67014400-67014800	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr14:67014600-67015200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr14:67014800-67020000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr14:67014800-67025200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr14:67015600-67021600	Weak transcription	Adipose Nuclei	Adipose
35	chr14:67016000-67016200	Active TSS	Fetal Brain Male	brain
36	chr14:67016200-67017000	Enhancers	Stomach Mucosa	stomach
37	chr14:67016200-67023000	Weak transcription	Fetal Brain Male	brain
38	chr14:67017600-67019200	Weak transcription	Pancreatic Islets	Pancreatic Islet
39	chr14:67019200-67019400	Enhancers	Pancreatic Islets	Pancreatic Islet
40	chr14:67022000-67022200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr14:67022200-67022800	Enhancers	A549	lung
42	chr14:67025000-67041200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr14:67026200-67027600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr14:67028000-67029200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr14:67028400-67031600	Enhancers	HUES48 Cell Line	embryonic stem cell
46	chr14:67028600-67028800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
47	chr14:67028800-67030400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr14:67029800-67031600	Enhancers	HUES64 Cell Line	embryonic stem cell
49	chr14:67030000-67030200	Enhancers	iPS-20b Cell Line	embryonic stem cell
50	chr14:67030000-67030400	Enhancers	HUES6 Cell Line	embryonic stem cell

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