Variant report

Variant	esv3477648
Chromosome Location	chr7:26142527-26147425
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:26135924..26137855-chr7:26144469..26146230,4	MCF-7	breast:
2	chr7:26133229..26135657-chr7:26144514..26146950,2	MCF-7	breast:
3	chr7:26135136..26138294-chr7:26144321..26146577,5	MCF-7	breast:
4	chr7:26145169..26147608-chr7:26224836..26227830,4	K562	blood:
5	chr7:26138953..26140614-chr7:26142057..26143746,2	K562	blood:
6	chr7:26146073..26148941-chr7:26224609..26227830,4	K562	blood:

Extended variants
information (count: 172 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:172 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs373231498	chr7:26142532-26142533	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs533672635	chr7:26142542-26142543	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs532928752	chr7:26142563-26142564	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs4722568	chr7:26142608-26142609	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs4722569	chr7:26142624-26142625	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs528651690	chr7:26142629-26142630	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs539310214	chr7:26142632-26142633	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs568442308	chr7:26142640-26142641	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs531092578	chr7:26142690-26142691	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs550609919	chr7:26142728-26142729	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs202033769	chr7:26142748-26142749	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs4722570	chr7:26142755-26142756	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs539560533	chr7:26142756-26142757	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs553398425	chr7:26142765-26142766	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs371733339	chr7:26142784-26142785	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs141607625	chr7:26142908-26142909	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs535671340	chr7:26142937-26142938	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs575548398	chr7:26142939-26142940	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs4722571	chr7:26142963-26142964	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs111599292	chr7:26143035-26143036	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs4722572	chr7:26143066-26143067	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs185526747	chr7:26143093-26143094	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs6959296	chr7:26143106-26143107	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs369524746	chr7:26143113-26143114	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs143243045	chr7:26143155-26143156	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs4722573	chr7:26143174-26143175	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs560388405	chr7:26143198-26143199	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs147506599	chr7:26143238-26143239	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs371042355	chr7:26143245-26143246	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs542051570	chr7:26143277-26143278	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs561935787	chr7:26143318-26143319	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs375853845	chr7:26143344-26143345	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs531115008	chr7:26143373-26143374	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs183541466	chr7:26143463-26143464	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs187304828	chr7:26143570-26143571	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs533331597	chr7:26143758-26143759	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs13247421	chr7:26143888-26143889	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs546040724	chr7:26144010-26144011	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs78267778	chr7:26144025-26144026	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs549248192	chr7:26144026-26144027	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs562660338	chr7:26144051-26144052	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs376653650	chr7:26144066-26144067	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs531299097	chr7:26144084-26144085	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs547859448	chr7:26144090-26144091	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs28479111	chr7:26144107-26144108	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs192414750	chr7:26144120-26144121	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs533811570	chr7:26144127-26144128	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs183182496	chr7:26144235-26144236	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs149651113	chr7:26144242-26144243	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs201781831	chr7:26144259-26144260	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

Disease	PMID	Source
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
Melanoma	18172304	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
Endometrioid adenocarcinoma	16974079	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
Non-syndromic sensorineural hearing loss	22570644	CNVD
Cancer	21183584	CNVD
abnormal development	18461090	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	21785460	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	21645411	CNVD
Lung adenocarcinoma	17086460	CNVD
Colorectal cancer	19455253	CNVD
Lung cancer	17086460	CNVD
Breast cancer	18852474	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:26138800-26143600	Enhancers	Placenta	Placenta
2	chr7:26141400-26144800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr7:26141400-26145000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr7:26141800-26143000	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr7:26141800-26143600	Enhancers	Primary B cells from peripheral blood	blood
6	chr7:26142000-26142600	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr7:26142000-26143200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr7:26142000-26143600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr7:26142200-26142600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr7:26142200-26142600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr7:26142200-26143000	Weak transcription	Primary B cells from cord blood	blood
12	chr7:26142200-26143000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr7:26142200-26143400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr7:26142200-26144000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr7:26142200-26145400	Weak transcription	Thymus	Thymus
16	chr7:26142200-26145600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr7:26142200-26145600	Weak transcription	Fetal Thymus	thymus
18	chr7:26142200-26145800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr7:26142200-26156600	Weak transcription	Fetal Intestine Small	intestine
20	chr7:26142400-26142800	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr7:26142400-26142800	Weak transcription	Fetal Kidney	kidney
22	chr7:26142400-26143000	Enhancers	Monocytes-CD14+_RO01746	blood
23	chr7:26142400-26143400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr7:26142400-26144600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr7:26142400-26144600	Weak transcription	Adipose Nuclei	Adipose
26	chr7:26142400-26145800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr7:26142400-26145800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr7:26142400-26146000	Enhancers	Primary monocytes fromperipheralblood	blood
29	chr7:26142400-26147400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr7:26142400-26149200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr7:26142400-26151600	Weak transcription	Primary T helper cells PMA-I stimulated	--
32	chr7:26142400-26151800	Weak transcription	Primary T cells from cord blood	blood
33	chr7:26142400-26156600	Weak transcription	GM12878-XiMat	blood
34	chr7:26142400-26156800	Weak transcription	Right Atrium	heart
35	chr7:26142600-26143000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr7:26142600-26143000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr7:26142600-26143200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr7:26142800-26143600	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr7:26142800-26144000	Enhancers	Fetal Kidney	kidney
40	chr7:26143000-26143200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
41	chr7:26143000-26143200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
42	chr7:26143000-26143400	Enhancers	Primary B cells from cord blood	blood
43	chr7:26143000-26143600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr7:26143000-26143800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr7:26143000-26145400	Enhancers	Primary neutrophils fromperipheralblood	blood
46	chr7:26143200-26143400	Enhancers	ES-I3 Cell Line	embryonic stem cell
47	chr7:26143200-26143400	Enhancers	Monocytes-CD14+_RO01746	blood
48	chr7:26143200-26143600	Enhancers	iPS-15b Cell Line	embryonic stem cell
49	chr7:26143200-26144400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr7:26143400-26143600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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