Variant report

Variant	esv1805765
Chromosome Location	chr7:17095077-17103344
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:17095846..17098605-chr7:17101734..17104493,2	MCF-7	breast:
2	chr7:17095846..17098605-chr7:17101734..17104493,2	MCF-7	breast:
3	chr7:17100496..17103422-chr7:17133231..17136201,2	MCF-7	breast:
4	chr7:17101748..17103793-chr7:17132668..17134988,2	MCF-7	breast:
5	chr7:17102437..17103359-chr7:17340354..17341360,3	MCF-7	breast:
6	chr7:17102519..17103019-chr7:17570516..17571366,2	MCF-7	breast:
7	chr7:17101013..17102818-chr7:17107864..17110439,2	MCF-7	breast:

Extended variants
information (count: 335 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:335 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546484	chr7:17095077-17095078	Strong transcription Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs370775126	chr7:17095081-17095082	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs145458816	chr7:17095087-17095088	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs377562403	chr7:17095090-17095091	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs185564455	chr7:17095099-17095100	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs78648047	chr7:17095114-17095115	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs532419733	chr7:17095154-17095155	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs73295932	chr7:17095193-17095194	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs566067134	chr7:17095197-17095198	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs74891796	chr7:17095236-17095237	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs75813185	chr7:17095264-17095265	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs532330676	chr7:17095275-17095276	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs147259662	chr7:17095298-17095299	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs190517313	chr7:17095310-17095311	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs117034076	chr7:17095343-17095344	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs140943263	chr7:17095346-17095347	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs562603913	chr7:17095359-17095360	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs34668974	chr7:17095373-17095374	Strong transcription Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs180913011	chr7:17095394-17095395	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs548164873	chr7:17095399-17095400	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs75428393	chr7:17095416-17095417	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs536312228	chr7:17095421-17095422	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs671026	chr7:17095430-17095431	Strong transcription Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs576534405	chr7:17095442-17095443	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs670997	chr7:17095456-17095457	Strong transcription Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs571003797	chr7:17095485-17095486	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs547434313	chr7:17095519-17095520	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs565280417	chr7:17095524-17095525	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs577108602	chr7:17095530-17095531	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs115235152	chr7:17095531-17095532	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs559663326	chr7:17095578-17095579	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs11765040	chr7:17095636-17095637	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs10244656	chr7:17095652-17095653	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs79058333	chr7:17095683-17095684	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs556832055	chr7:17095688-17095689	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs531576774	chr7:17095694-17095695	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs374698710	chr7:17095726-17095727	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs371996388	chr7:17095732-17095733	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs566808990	chr7:17095756-17095757	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs571593464	chr7:17095766-17095767	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs538907775	chr7:17095781-17095782	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs547433076	chr7:17095814-17095815	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs10260290	chr7:17095832-17095833	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs117420271	chr7:17095895-17095896	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs149001965	chr7:17095962-17095963	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs534301966	chr7:17096002-17096003	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs13227633	chr7:17096005-17096006	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs555331573	chr7:17096038-17096039	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs577132271	chr7:17096057-17096058	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs76555788	chr7:17096148-17096149	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	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
Autism	22495309	CNVD

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:17089000-17098000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr7:17093800-17095600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr7:17093800-17095800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr7:17093800-17097200	Enhancers	HMEC	breast
5	chr7:17093800-17097400	Enhancers	NHEK	skin
6	chr7:17093800-17097600	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr7:17094200-17095200	Weak transcription	Dnd41	blood
8	chr7:17094200-17096600	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr7:17094400-17096800	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr7:17094600-17095200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr7:17094600-17096400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr7:17095200-17095400	Enhancers	Dnd41	blood
13	chr7:17095200-17098200	Weak transcription	Aorta	Aorta
14	chr7:17095200-17098600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr7:17095400-17095800	Weak transcription	Dnd41	blood
16	chr7:17095600-17108800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr7:17095800-17096200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr7:17095800-17099200	Enhancers	Dnd41	blood
19	chr7:17096000-17096800	Enhancers	Osteobl	bone
20	chr7:17096000-17097000	Enhancers	Muscle Satellite Cultured Cells	--
21	chr7:17096200-17096800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr7:17096200-17096800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr7:17096400-17097200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr7:17096400-17100000	Enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr7:17096600-17096800	Enhancers	HSMM	muscle
26	chr7:17096600-17097000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr7:17096600-17097000	Enhancers	Placenta Amnion	Placenta Amnion
28	chr7:17096600-17097200	Enhancers	Placenta	Placenta
29	chr7:17096600-17098000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr7:17096600-17098000	Enhancers	Monocytes-CD14+_RO01746	blood
31	chr7:17096600-17100000	Enhancers	Primary hematopoietic stem cells	blood
32	chr7:17096800-17097000	Enhancers	NHDF-Ad	bronchial
33	chr7:17096800-17098000	Weak transcription	HSMM	muscle
34	chr7:17096800-17098000	Weak transcription	Osteobl	bone
35	chr7:17096800-17100000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr7:17096800-17100400	Enhancers	Primary monocytes fromperipheralblood	blood
37	chr7:17097000-17097400	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr7:17097000-17097600	Weak transcription	NHDF-Ad	bronchial
39	chr7:17097200-17098200	Weak transcription	HMEC	breast
40	chr7:17097400-17098400	Weak transcription	NHEK	skin
41	chr7:17097400-17099000	Enhancers	Muscle Satellite Cultured Cells	--
42	chr7:17097600-17099000	Enhancers	HUVEC	blood vessel
43	chr7:17097600-17099000	Enhancers	NHDF-Ad	bronchial
44	chr7:17097800-17099000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr7:17098000-17098600	Enhancers	HSMM	muscle
46	chr7:17098000-17098800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr7:17098000-17098800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr7:17098000-17098800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr7:17098000-17098800	Enhancers	Osteobl	bone
50	chr7:17098000-17099000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links