Variant report

Variant	esv2463128
Chromosome Location	chr7:17953406-17953807
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:17809077..17810066-chr7:17952679..17953584,3	MCF-7	breast:

Extended variants
information (count: 22 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2691573	chr7:17953407-17953408	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs542787630	chr7:17953417-17953418	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs554619533	chr7:17953439-17953440	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs576098212	chr7:17953440-17953441	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs7799550	chr7:17953500-17953501	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs561908518	chr7:17953508-17953509	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs73310190	chr7:17953519-17953520	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs149960869	chr7:17953544-17953545	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs533125141	chr7:17953556-17953557	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs7782907	chr7:17953565-17953566	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs187415113	chr7:17953566-17953567	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs560124939	chr7:17953590-17953591	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs7800087	chr7:17953591-17953592	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs527460457	chr7:17953621-17953622	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs79355358	chr7:17953655-17953656	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs374843293	chr7:17953659-17953660	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs547946097	chr7:17953685-17953686	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs531394448	chr7:17953690-17953691	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs200434371	chr7:17953750-17953751	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs111400861	chr7:17953752-17953753	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs77424293	chr7:17953771-17953772	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs7800370	chr7:17953779-17953780	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

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
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
Autism	20531469	CNVD

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:17900400-17956600	Weak transcription	A549	lung
2	chr7:17907200-17954800	Weak transcription	Spleen	Spleen
3	chr7:17911400-17977400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr7:17913000-17955800	Weak transcription	K562	blood
5	chr7:17927200-17955000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr7:17929800-17954000	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr7:17930200-17954200	Weak transcription	Placenta	Placenta
8	chr7:17941400-17958400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr7:17942800-17954800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr7:17942800-17954800	Weak transcription	Pancreas	Pancrea
11	chr7:17943800-17956000	Weak transcription	Primary T cells from cord blood	blood
12	chr7:17944000-17953800	Weak transcription	Liver	Liver
13	chr7:17944000-17955400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr7:17944800-17955200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr7:17947000-17955200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr7:17947200-17954800	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr7:17947200-17955400	Weak transcription	Primary T helper cells fromperipheralblood	blood
18	chr7:17947400-17954800	Weak transcription	Small Intestine	intestine
19	chr7:17947400-17956600	Weak transcription	Fetal Lung	lung
20	chr7:17947400-17957400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr7:17947600-17953600	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr7:17948200-17961000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr7:17948400-17960800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr7:17948600-17962800	Weak transcription	Rectal Smooth Muscle	rectum
25	chr7:17949600-17954800	Weak transcription	Fetal Intestine Small	intestine
26	chr7:17950400-17955000	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr7:17950600-17955800	Weak transcription	Primary hematopoietic stem cells	blood
28	chr7:17950800-17956800	Weak transcription	Primary B cells from cord blood	blood
29	chr7:17951600-17956600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr7:17951800-17953800	Enhancers	Adipose Nuclei	Adipose
31	chr7:17951800-17954800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr7:17952000-17954800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr7:17952200-17955000	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr7:17952600-17954800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr7:17952800-17953800	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr7:17952800-17954200	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr7:17952800-17954600	Weak transcription	Primary T cells fromperipheralblood	blood
38	chr7:17952800-17955400	Enhancers	Brain Hippocampus Middle	brain
39	chr7:17952800-17964400	Weak transcription	Gastric	stomach
40	chr7:17953000-17953800	Enhancers	Brain Substantia Nigra	brain
41	chr7:17953000-17954000	Enhancers	Brain Cingulate Gyrus	brain
42	chr7:17953000-17954200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr7:17953000-17955000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr7:17953000-17955400	Enhancers	HUES64 Cell Line	embryonic stem cell
45	chr7:17953000-17961600	Weak transcription	Aorta	Aorta
46	chr7:17953000-17963000	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr7:17953200-17954200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr7:17953200-17954400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr7:17953200-17954400	Weak transcription	Brain Anterior Caudate	brain
50	chr7:17953200-17954800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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