Variant report

Variant	esv996210
Chromosome Location	chr7:17858460-17858975
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	chr7:17856945..17858744-chr7:17859975..17861675,2	K562	blood:
2	chr7:17853387..17855220-chr7:17856862..17859241,2	K562	blood:

Variant related genes	Relation type
ENSG00000071189	chromatin interactions

Extended variants
information (count: 19 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs571223965	chr7:17858461-17858462	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs538227675	chr7:17858488-17858489	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs554059427	chr7:17858515-17858516	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs566063738	chr7:17858529-17858530	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs949451	chr7:17858554-17858555	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs554787117	chr7:17858561-17858562	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs576191200	chr7:17858593-17858594	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs141609422	chr7:17858630-17858631	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs35226253	chr7:17858668-17858669	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs575032530	chr7:17858669-17858670	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs182823014	chr7:17858688-17858689	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs188737764	chr7:17858689-17858690	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs577186706	chr7:17858698-17858699	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs4628173	chr7:17858717-17858718	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs559764587	chr7:17858742-17858743	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs572418998	chr7:17858778-17858779	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs542935489	chr7:17858884-17858885	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs10255868	chr7:17858914-17858915	Weak transcription Strong transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs531357072	chr7:17858918-17858919	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

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
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:17812600-17887600	Weak transcription	Gastric	stomach
2	chr7:17813600-17879200	Weak transcription	HSMMtube	muscle
3	chr7:17817400-17887600	Weak transcription	Pancreas	Pancrea
4	chr7:17823600-17887600	Weak transcription	Brain Cingulate Gyrus	brain
5	chr7:17824800-17861800	Weak transcription	Fetal Heart	heart
6	chr7:17825800-17887600	Weak transcription	Colonic Mucosa	Colon
7	chr7:17826400-17864000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr7:17827400-17877600	Weak transcription	Small Intestine	intestine
9	chr7:17832000-17862600	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr7:17832000-17880600	Weak transcription	GM12878-XiMat	blood
11	chr7:17834000-17887800	Weak transcription	Right Ventricle	heart
12	chr7:17834200-17879400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr7:17834800-17888800	Weak transcription	Brain Substantia Nigra	brain
14	chr7:17838800-17887600	Weak transcription	Rectal Smooth Muscle	rectum
15	chr7:17839000-17932600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr7:17841000-17861000	Weak transcription	NHDF-Ad	bronchial
17	chr7:17841000-17862000	Weak transcription	HUVEC	blood vessel
18	chr7:17841200-17883800	Weak transcription	HMEC	breast
19	chr7:17841200-17902600	Weak transcription	Brain Anterior Caudate	brain
20	chr7:17841400-17862200	Weak transcription	NH-A	brain
21	chr7:17841400-17862200	Weak transcription	NHEK	skin
22	chr7:17841400-17862800	Weak transcription	Stomach Mucosa	stomach
23	chr7:17841600-17879400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr7:17843200-17881800	Weak transcription	A549	lung
25	chr7:17843400-17864000	Weak transcription	Osteobl	bone
26	chr7:17843400-17864600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr7:17843400-17879200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
28	chr7:17846000-17900600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr7:17847400-17862200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr7:17847400-17879000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr7:17847400-17880600	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr7:17847400-17887600	Weak transcription	Ovary	ovary
33	chr7:17847400-17887600	Weak transcription	Spleen	Spleen
34	chr7:17847600-17887600	Weak transcription	Fetal Stomach	stomach
35	chr7:17847800-17862200	Weak transcription	Fetal Intestine Large	intestine
36	chr7:17847800-17864200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr7:17851400-17865400	Strong transcription	Primary monocytes fromperipheralblood	blood
38	chr7:17852600-17879200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr7:17852600-17887800	Weak transcription	Brain Hippocampus Middle	brain
40	chr7:17852600-17896000	Weak transcription	Fetal Kidney	kidney
41	chr7:17852600-17902800	Weak transcription	Colon Smooth Muscle	Colon
42	chr7:17852800-17861800	Weak transcription	Primary T cells from cord blood	blood
43	chr7:17852800-17862400	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr7:17852800-17880600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr7:17852800-17887000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr7:17852800-17890200	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr7:17852800-17895000	Weak transcription	Brain Germinal Matrix	brain
48	chr7:17853000-17880400	Weak transcription	Thymus	Thymus
49	chr7:17853200-17862400	Weak transcription	Fetal Lung	lung
50	chr7:17853400-17858800	Weak transcription	Esophagus	oesophagus

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