Variant report

Variant	nsv520554
Chromosome Location	chr7:16795114-16795564
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:16794915..16798218-chr7:16804001..16806170,3	MCF-7	breast:
2	chr7:16793269..16796429-chr7:16820580..16823340,4	MCF-7	breast:
3	chr7:16793190..16795518-chr7:16923523..16926249,2	MCF-7	breast:
4	chr7:16785410..16787895-chr7:16793449..16795182,2	MCF-7	breast:
5	chr7:16685517..16687243-chr7:16793230..16795207,2	K562	blood:
6	chr7:16781689..16783887-chr7:16794531..16797330,3	K562	blood:
7	chr7:16776351..16778265-chr7:16793377..16796196,2	K562	blood:
8	chr7:16793915..16797924-chr7:16812688..16815916,4	K562	blood:
9	chr7:16735197..16737056-chr7:16793469..16795532,2	MCF-7	breast:
10	chr7:16795433..16797720-chr7:16943125..16945595,2	MCF-7	breast:
11	chr7:16794917..16796909-chr7:16801074..16804000,3	K562	blood:
12	chr7:16794921..16798267-chr7:16802631..16805801,3	MCF-7	breast:
13	chr7:16794764..16798120-chr7:16805812..16808493,3	MCF-7	breast:
14	chr7:16792720..16796708-chr7:16843218..16846000,6	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000136261	chromatin interactions
ENSG00000106541	chromatin interactions
ENSG00000106537	chromatin interactions

Extended variants
information (count: 16 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs818803	chr7:16795114-16795115	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs34234997	chr7:16795166-16795167	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs386409593	chr7:16795167-16795168	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs55649707	chr7:16795183-16795184	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs111606545	chr7:16795211-16795212	Weak transcription Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs532847763	chr7:16795236-16795237	Weak transcription Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs191610650	chr7:16795261-16795262	Weak transcription Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs111954136	chr7:16795283-16795284	Weak transcription Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs58755731	chr7:16795326-16795327	Weak transcription Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs818804	chr7:16795370-16795371	Weak transcription Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs145889868	chr7:16795428-16795429	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs183819434	chr7:16795462-16795463	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs147069531	chr7:16795510-16795511	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs555929957	chr7:16795542-16795543	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs542757306	chr7:16795544-16795545	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs818805	chr7:16795564-16795565	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:88)

Disease	PMID	Source
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
Urothelial carcinoma	18382360	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Autism	22495311	CNVD
Prostate cancer	16573809	CNVD
Acute myeloid leukemia	21251322	CNVD
Melanoma	17363583	CNVD
Kartagener syndrome	16639409	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Prostate cancer	19242612	CNVD
Autism	18414403	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21858162	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Glioblastoma multiforme	18628472	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Heart disease	21282601	CNVD
Rubinstein-Taybi syndrome	22470819	CNVD
Alzheimer''s disease	22166940	CNVD
Abnormal phenotypes	18644119	CNVD
Non-syndromic sensorineural hearing loss	22570644	CNVD
Bladder cancer	21909424	CNVD
Cancer	21183584	CNVD
Autism	20808228	CNVD
Sezary syndrome	18413736	CNVD
Multiple myeloma	17550852	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:16792800-16795200	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr7:16792800-16795400	Active TSS	Right Atrium	heart
3	chr7:16792800-16795600	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr7:16792800-16796200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
5	chr7:16792800-16796400	Active TSS	Fetal Intestine Small	intestine
6	chr7:16792800-16796600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr7:16792800-16796600	Active TSS	Fetal Brain Female	brain
8	chr7:16793000-16795200	Active TSS	Brain Anterior Caudate	brain
9	chr7:16793000-16795400	Active TSS	Right Ventricle	heart
10	chr7:16793000-16795600	Active TSS	Fetal Intestine Large	intestine
11	chr7:16793000-16796000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr7:16793000-16796800	Flanking Active TSS	Primary B cells from cord blood	blood
13	chr7:16794000-16795200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr7:16794200-16795200	Flanking Active TSS	K562	blood
15	chr7:16794200-16795200	Flanking Active TSS	NH-A	brain
16	chr7:16794400-16795200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr7:16794400-16795200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
18	chr7:16794400-16795200	Flanking Active TSS	Fetal Heart	heart
19	chr7:16794400-16795200	Active TSS	Psoas Muscle	Psoas
20	chr7:16794400-16796400	Active TSS	Brain Inferior Temporal Lobe	brain
21	chr7:16794600-16795200	Flanking Active TSS	Primary B cells from peripheral blood	blood
22	chr7:16794600-16795200	Active TSS	Fetal Muscle Trunk	muscle
23	chr7:16794600-16795800	Weak transcription	NHDF-Ad	bronchial
24	chr7:16794600-16796200	Active TSS	Brain Cingulate Gyrus	brain
25	chr7:16794600-16796200	Active TSS	Rectal Mucosa Donor 29	rectum
26	chr7:16794800-16795200	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr7:16794800-16795200	Flanking Active TSS	Duodenum Mucosa	Duodenum
28	chr7:16794800-16795200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
29	chr7:16794800-16795200	Enhancers	A549	lung
30	chr7:16794800-16796000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr7:16794800-16796200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr7:16794800-16796400	Enhancers	Osteobl	bone
33	chr7:16794800-16798800	Weak transcription	Gastric	stomach
34	chr7:16795000-16795200	Enhancers	H1 Cell Line	embryonic stem cell
35	chr7:16795000-16795200	Active TSS	HUES48 Cell Line	embryonic stem cell
36	chr7:16795000-16795200	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr7:16795000-16795200	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
38	chr7:16795000-16795200	Active TSS	iPS-15b Cell Line	embryonic stem cell
39	chr7:16795000-16795200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
40	chr7:16795000-16795200	Bivalent Enhancer	Brain Germinal Matrix	brain
41	chr7:16795000-16795200	Flanking Active TSS	Fetal Brain Male	brain
42	chr7:16795000-16795200	Active TSS	Fetal Muscle Leg	muscle
43	chr7:16795000-16795200	Enhancers	NHEK	skin
44	chr7:16795000-16795400	Active TSS	iPS-20b Cell Line	embryonic stem cell
45	chr7:16795000-16795800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr7:16795000-16795800	Weak transcription	Pancreas	Pancrea
47	chr7:16795000-16796000	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr7:16795000-16796000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr7:16795000-16796000	Enhancers	Breast Myoepithelial Primary Cells	Breast
50	chr7:16795000-16796000	Weak transcription	Fetal Kidney	kidney

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