Variant report

Variant	esv14959
Chromosome Location	chr7:17844487-17845419
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	chr7:17837121..17839651-chr7:17841866..17844504,2	K562	blood:
2	chr7:17844492..17846186-chr7:17870318..17872913,2	MCF-7	breast:

Extended variants
information (count: 45 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:45 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532976869	chr7:17844489-17844490	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs531920641	chr7:17844563-17844564	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs549880495	chr7:17844564-17844565	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs188543077	chr7:17844570-17844571	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs540476640	chr7:17844571-17844572	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs532376731	chr7:17844624-17844625	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs547425985	chr7:17844661-17844662	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs143502034	chr7:17844679-17844680	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs533869881	chr7:17844773-17844774	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs555619716	chr7:17844807-17844808	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs10278523	chr7:17844821-17844822	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs74418424	chr7:17844867-17844868	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs78293225	chr7:17844869-17844870	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs79465695	chr7:17844871-17844872	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs76015833	chr7:17844873-17844874	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs55946438	chr7:17844874-17844875	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs2691587	chr7:17844875-17844876	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs537620797	chr7:17844877-17844878	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs372798607	chr7:17844878-17844879	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs147939166	chr7:17844879-17844880	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs577771974	chr7:17844881-17844882	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs545116324	chr7:17844884-17844885	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs75270554	chr7:17844886-17844887	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs144204895	chr7:17844887-17844888	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs571986842	chr7:17844888-17844889	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs56000068	chr7:17844889-17844890	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs547671162	chr7:17844891-17844892	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs182105233	chr7:17844898-17844899	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs561595099	chr7:17844902-17844903	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs147420229	chr7:17844904-17844905	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs543566801	chr7:17844927-17844928	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs186697822	chr7:17845015-17845016	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs532514137	chr7:17845124-17845125	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs547462368	chr7:17845155-17845156	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs139194351	chr7:17845163-17845164	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs539610526	chr7:17845175-17845176	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs190095061	chr7:17845201-17845202	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs556379517	chr7:17845223-17845224	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs549028976	chr7:17845253-17845254	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs149969117	chr7:17845276-17845277	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs576185921	chr7:17845280-17845281	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs538047337	chr7:17845312-17845313	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs182198768	chr7:17845324-17845325	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs571464981	chr7:17845341-17845342	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs538767813	chr7:17845414-17845415	Weak transcription Strong transcription	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:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:17812400-17846200	Weak transcription	Fetal Stomach	stomach
2	chr7:17812400-17852200	Weak transcription	Esophagus	oesophagus
3	chr7:17812600-17887600	Weak transcription	Gastric	stomach
4	chr7:17813600-17879200	Weak transcription	HSMMtube	muscle
5	chr7:17817400-17887600	Weak transcription	Pancreas	Pancrea
6	chr7:17821800-17847000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr7:17822000-17846200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr7:17822000-17852600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr7:17822200-17845600	Weak transcription	NHLF	lung
10	chr7:17823000-17846200	Weak transcription	Fetal Intestine Small	intestine
11	chr7:17823200-17854400	Weak transcription	Lung	lung
12	chr7:17823600-17887600	Weak transcription	Brain Cingulate Gyrus	brain
13	chr7:17824800-17861800	Weak transcription	Fetal Heart	heart
14	chr7:17825800-17887600	Weak transcription	Colonic Mucosa	Colon
15	chr7:17826000-17847000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr7:17826400-17846400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr7:17826400-17852400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr7:17826400-17853200	Weak transcription	Aorta	Aorta
19	chr7:17826400-17864000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr7:17827400-17877600	Weak transcription	Small Intestine	intestine
21	chr7:17828800-17847800	Strong transcription	Monocytes-CD14+_RO01746	blood
22	chr7:17832000-17846400	Weak transcription	K562	blood
23	chr7:17832000-17849000	Weak transcription	Fetal Brain Female	brain
24	chr7:17832000-17862600	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr7:17832000-17880600	Weak transcription	GM12878-XiMat	blood
26	chr7:17832200-17846200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr7:17832400-17846200	Weak transcription	Spleen	Spleen
28	chr7:17832400-17846400	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr7:17832600-17846200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr7:17833400-17845600	Weak transcription	Brain Angular Gyrus	brain
31	chr7:17834000-17846200	Weak transcription	Thymus	Thymus
32	chr7:17834000-17852400	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr7:17834000-17853000	Weak transcription	Hela-S3	cervix
34	chr7:17834000-17887800	Weak transcription	Right Ventricle	heart
35	chr7:17834200-17846400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr7:17834200-17846400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr7:17834200-17879400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr7:17834400-17852200	Weak transcription	Brain Germinal Matrix	brain
39	chr7:17834800-17888800	Weak transcription	Brain Substantia Nigra	brain
40	chr7:17835600-17845400	Strong transcription	Rectal Mucosa Donor 31	rectum
41	chr7:17836000-17845200	Strong transcription	Primary hematopoietic stem cells	blood
42	chr7:17836400-17844800	Weak transcription	Fetal Brain Male	brain
43	chr7:17837000-17846400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr7:17837600-17846200	Weak transcription	Ovary	ovary
45	chr7:17837600-17846800	Weak transcription	Fetal Muscle Trunk	muscle
46	chr7:17837800-17846600	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr7:17837800-17852000	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr7:17837800-17855400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr7:17838000-17844800	Weak transcription	Primary T cells from cord blood	blood
50	chr7:17838000-17852200	Weak transcription	Brain Hippocampus Middle	brain

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