Variant report

Variant	nsv1051980
Chromosome Location	chr14:67076006-67140282
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:22)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:22 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:67094105..67096992-chr14:67100475..67102216,2	MCF-7	breast:
2	chr14:67121584..67124061-chr14:67125684..67127245,2	MCF-7	breast:
3	chr14:67091167..67092058-chr14:67129135..67130325,3	MCF-7	breast:
4	chr14:67090630..67091537-chr14:67128804..67129400,2	MCF-7	breast:
5	chr14:66867855..66868382-chr14:67076673..67077298,2	MCF-7	breast:
6	chr14:67070723..67074270-chr14:67075283..67078895,3	MCF-7	breast:
7	chr14:66974755..66976344-chr14:67079161..67081755,2	MCF-7	breast:
8	chr14:67092710..67093625-chr20:56335759..56336366,2	MCF-7	breast:
9	chr14:67091167..67092058-chr14:67129135..67130325,3	MCF-7	breast:
10	chr14:67121584..67124061-chr14:67125684..67127245,2	MCF-7	breast:
11	chr14:66867904..66868628-chr14:67128968..67129850,2	MCF-7	breast:
12	chr14:66973300..66976249-chr14:67075152..67078057,2	MCF-7	breast:
13	chr14:67092344..67095051-chr14:67583275..67586009,2	MCF-7	breast:
14	chr14:67090929..67091438-chr14:67585122..67585749,2	MCF-7	breast:
15	chr14:67089010..67091228-chr14:67584048..67586914,2	MCF-7	breast:
16	chr14:67096231..67098087-chr14:67103759..67105557,2	MCF-7	breast:
17	chr14:67090630..67091537-chr14:67128804..67129400,2	MCF-7	breast:
18	chr14:67096231..67098087-chr14:67103759..67105557,2	MCF-7	breast:
19	chr14:66973750..66975677-chr14:67108046..67110117,2	MCF-7	breast:
20	chr14:67091099..67091710-chr14:67212729..67213799,3	MCF-7	breast:
21	chr14:67090731..67091375-chr14:68170944..68171444,2	MCF-7	breast:
22	chr14:67094105..67096992-chr14:67100475..67102216,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000171723	chromatin interactions
ENSG00000258561	chromatin interactions

Extended variants
information (count: 2075 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:2075 , 50 per page) page: 1 2 3 4 5 6 7 ... 42

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs188774858	chr14:67076024-67076025	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs77796655	chr14:67076028-67076029	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs561042782	chr14:67076029-67076030	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs191017141	chr14:67076037-67076038	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs544296047	chr14:67076092-67076093	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs372243896	chr14:67076098-67076099	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs531044652	chr14:67076103-67076104	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs374092952	chr14:67076106-67076107	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs574789933	chr14:67076139-67076140	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs543794905	chr14:67076172-67076173	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs115659870	chr14:67076250-67076251	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs532440435	chr14:67076275-67076276	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs552449185	chr14:67076319-67076320	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs147680783	chr14:67076331-67076332	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs528472588	chr14:67076417-67076418	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs551068462	chr14:67076437-67076438	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs373667043	chr14:67076440-67076441	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs375668752	chr14:67076464-67076465	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs548282464	chr14:67076477-67076478	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs8018444	chr14:67076511-67076512	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs183169360	chr14:67076539-67076540	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs371505766	chr14:67076557-67076558	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs548444480	chr14:67076600-67076601	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs374440122	chr14:67076626-67076627	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs187474561	chr14:67076637-67076638	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs570053295	chr14:67076687-67076688	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs112908121	chr14:67076689-67076690	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs538941844	chr14:67076695-67076696	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs558911544	chr14:67076755-67076756	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs572581637	chr14:67076813-67076814	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs191876688	chr14:67076839-67076840	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs555052036	chr14:67076842-67076843	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs574801912	chr14:67076870-67076871	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs571404481	chr14:67076872-67076873	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs10138234	chr14:67076891-67076892	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs370296261	chr14:67076908-67076909	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs577238940	chr14:67076918-67076919	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs373674575	chr14:67076949-67076950	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs569065165	chr14:67076972-67076973	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs528310831	chr14:67077032-67077033	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs7161707	chr14:67077039-67077040	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs7161409	chr14:67077072-67077073	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs184874359	chr14:67077095-67077096	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs199747905	chr14:67077147-67077148	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs7140281	chr14:67077150-67077151	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs76137799	chr14:67077159-67077160	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs570090110	chr14:67077189-67077190	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs532700000	chr14:67077191-67077192	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs143231469	chr14:67077228-67077229	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs566211141	chr14:67077324-67077325	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	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
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
Neuroblastoma	20406844	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Autism	22495309	CNVD

Chromatin state (count:331 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:67069400-67085000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr14:67077000-67077200	Enhancers	Primary T helper cells PMA-I stimulated	--
3	chr14:67077000-67077200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr14:67077200-67077400	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
5	chr14:67078000-67078600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr14:67079400-67081000	Enhancers	Liver	Liver
7	chr14:67083200-67084200	ZNF genes & repeats	Fetal Intestine Small	intestine
8	chr14:67083800-67084000	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr14:67083800-67084000	Weak transcription	Gastric	stomach
10	chr14:67084000-67084200	ZNF genes & repeats	Gastric	stomach
11	chr14:67084000-67084400	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr14:67084000-67090600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr14:67084200-67085000	ZNF genes & repeats	Duodenum Mucosa	Duodenum
14	chr14:67084200-67086600	Weak transcription	Gastric	stomach
15	chr14:67084400-67084600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr14:67084400-67093200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr14:67085000-67088400	Weak transcription	Duodenum Mucosa	Duodenum
18	chr14:67086600-67087000	Enhancers	Gastric	stomach
19	chr14:67086600-67087400	Enhancers	HepG2	liver
20	chr14:67086800-67087000	Enhancers	Sigmoid Colon	Sigmoid Colon
21	chr14:67087000-67087400	Enhancers	Liver	Liver
22	chr14:67087000-67106800	Weak transcription	Gastric	stomach
23	chr14:67087200-67110000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr14:67087400-67090000	Weak transcription	Liver	Liver
25	chr14:67088400-67089000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr14:67088400-67089000	ZNF genes & repeats	Duodenum Mucosa	Duodenum
27	chr14:67088400-67091000	Weak transcription	Brain Substantia Nigra	brain
28	chr14:67088800-67089000	Enhancers	Left Ventricle	heart
29	chr14:67088800-67089200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr14:67089000-67090200	Weak transcription	Left Ventricle	heart
31	chr14:67089200-67090200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr14:67090000-67090200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr14:67090000-67091600	Enhancers	Liver	Liver
34	chr14:67090200-67090800	Enhancers	Left Ventricle	heart
35	chr14:67090200-67091200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr14:67090200-67091200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr14:67090400-67090800	Enhancers	Right Ventricle	heart
38	chr14:67090400-67091000	Enhancers	Psoas Muscle	Psoas
39	chr14:67090400-67091000	Enhancers	Skeletal Muscle Male	skeletal muscle
40	chr14:67090400-67091000	Enhancers	Skeletal Muscle Female	skeletal muscle
41	chr14:67090400-67091600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr14:67090400-67092800	Enhancers	Colon Smooth Muscle	Colon
43	chr14:67090600-67090800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr14:67090600-67090800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr14:67090600-67091200	Enhancers	Rectal Smooth Muscle	rectum
46	chr14:67090600-67091400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr14:67090600-67091600	Enhancers	Fetal Heart	heart
48	chr14:67090600-67091800	Enhancers	Fetal Lung	lung
49	chr14:67090600-67092000	Enhancers	Adipose Nuclei	Adipose
50	chr14:67090600-67092000	Enhancers	Fetal Muscle Leg	muscle

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