Variant report

Variant	esv3477643
Chromosome Location	chr7:26135127-26140125
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:26135924..26137855-chr7:26144469..26146230,4	MCF-7	breast:
2	chr7:26135136..26138294-chr7:26144321..26146577,5	MCF-7	breast:
3	chr7:26138953..26140614-chr7:26142057..26143746,2	K562	blood:
4	chr7:26140097..26142166-chr7:26224742..26227594,2	K562	blood:
5	chr7:26117990..26136794-chr7:26219781..26234338,53	K562	blood:
6	chr7:26133229..26135657-chr7:26144514..26146950,2	MCF-7	breast:
7	chr7:26136960..26140512-chr7:26226454..26229545,3	K562	blood:
8	chr7:26134385..26136107-chr7:26239301..26241163,2	K562	blood:
9	chr7:26129160..26135245-chr7:26236399..26242372,9	MCF-7	breast:
10	chr7:26131124..26132975-chr7:26134853..26136801,2	K562	blood:
11	chr7:26127085..26136794-chr7:26224123..26230309,16	K562	blood:
12	chr7:26134161..26136379-chr7:26242320..26244096,2	K562	blood:
13	chr7:26127176..26132084-chr7:26132908..26137367,5	K562	blood:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HNRNPA2B1-9	chr7:26136736-26136923	l_3383_chr7:26064190-26136923_testes

No data

Variant related genes	Relation type
ENSG00000122566	chromatin interactions
ENSG00000122565	chromatin interactions
ENSG00000050344	chromatin interactions

Extended variants
information (count: 158 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:158 , 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	rs560075908	chr7:26135127-26135128	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs556329988	chr7:26135152-26135153	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs373371378	chr7:26135194-26135195	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs76724010	chr7:26135199-26135200	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs117695482	chr7:26135210-26135211	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs530976687	chr7:26135216-26135217	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs148541255	chr7:26135225-26135226	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs563796617	chr7:26135229-26135230	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs529578232	chr7:26135300-26135301	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs188413673	chr7:26135324-26135325	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs192185822	chr7:26135361-26135362	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs533432931	chr7:26135369-26135370	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs546718377	chr7:26135378-26135379	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs149160786	chr7:26135379-26135380	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs35257100	chr7:26135404-26135405	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs368913375	chr7:26135453-26135454	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs184433758	chr7:26135466-26135467	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs568971013	chr7:26135469-26135470	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs35006008	chr7:26135490-26135491	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs557961411	chr7:26135511-26135512	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs578022777	chr7:26135531-26135532	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs528474070	chr7:26135570-26135571	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs540521425	chr7:26135575-26135576	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs10270515	chr7:26135577-26135578	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs188875992	chr7:26135587-26135588	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs11368583	chr7:26135637-26135638	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs386409745	chr7:26135638-26135639	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs182294033	chr7:26135650-26135651	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs200205203	chr7:26135651-26135652	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs386409746	chr7:26135652-26135653	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs59361687	chr7:26135653-26135654	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs199605051	chr7:26135654-26135655	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs200558173	chr7:26135696-26135697	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs571406245	chr7:26135703-26135704	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs562578041	chr7:26135707-26135708	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs531287956	chr7:26135722-26135723	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs187371991	chr7:26135768-26135769	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs564331813	chr7:26135785-26135786	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs533492226	chr7:26135854-26135855	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs571733738	chr7:26135948-26135949	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs547227195	chr7:26135950-26135951	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs148040580	chr7:26135989-26135990	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs117245666	chr7:26136002-26136003	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs112118116	chr7:26136003-26136004	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs375896490	chr7:26136025-26136026	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs144895007	chr7:26136038-26136039	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs558022949	chr7:26136062-26136063	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs556180492	chr7:26136099-26136100	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs571460959	chr7:26136105-26136106	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs138755054	chr7:26136128-26136129	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:77)

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
Colorectal cancer	16774939	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:130 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:26119200-26141000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:26126000-26135800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr7:26127000-26136600	Weak transcription	Fetal Thymus	thymus
4	chr7:26129000-26136400	Weak transcription	Placenta	Placenta
5	chr7:26129800-26136400	Weak transcription	GM12878-XiMat	blood
6	chr7:26131000-26136200	Weak transcription	Primary B cells from cord blood	blood
7	chr7:26131000-26136200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr7:26131000-26136400	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr7:26131000-26136400	Weak transcription	Primary B cells from peripheral blood	blood
10	chr7:26131000-26136800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr7:26131800-26137200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr7:26131800-26137400	Weak transcription	A549	lung
13	chr7:26131800-26140400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr7:26132000-26135800	Weak transcription	Primary T cells from cord blood	blood
15	chr7:26132000-26135800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr7:26132000-26136800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr7:26132000-26137400	Weak transcription	Hela-S3	cervix
18	chr7:26132200-26135400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr7:26132200-26136000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr7:26132200-26136200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr7:26132200-26136200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr7:26132200-26136200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr7:26132200-26137400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr7:26132200-26137400	Weak transcription	NHEK	skin
25	chr7:26132400-26135800	Weak transcription	Primary T helper cells fromperipheralblood	blood
26	chr7:26132600-26135800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr7:26132600-26137400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr7:26134800-26137000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr7:26135000-26135200	Enhancers	Primary T helper cells PMA-I stimulated	--
30	chr7:26135200-26135600	Weak transcription	Primary T helper cells PMA-I stimulated	--
31	chr7:26135400-26137000	Enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr7:26135600-26139200	Enhancers	Primary T helper cells PMA-I stimulated	--
33	chr7:26135800-26136200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr7:26135800-26136600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr7:26135800-26137200	Enhancers	Primary T cells from cord blood	blood
36	chr7:26135800-26137600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
37	chr7:26135800-26138200	Enhancers	Primary T helper naive cells from peripheral blood	blood
38	chr7:26135800-26138800	Enhancers	Primary T helper cells fromperipheralblood	blood
39	chr7:26136000-26136400	Enhancers	Brain Cingulate Gyrus	brain
40	chr7:26136000-26136600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
41	chr7:26136000-26136600	Enhancers	Brain Inferior Temporal Lobe	brain
42	chr7:26136200-26137200	Weak transcription	HepG2	liver
43	chr7:26136200-26137600	Enhancers	Primary B cells from cord blood	blood
44	chr7:26136200-26138400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
45	chr7:26136200-26138600	Enhancers	Primary T killer memory cells from peripheral blood	blood
46	chr7:26136200-26139200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
47	chr7:26136200-26140600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr7:26136200-26141000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
49	chr7:26136400-26138200	Enhancers	Primary B cells from peripheral blood	blood
50	chr7:26136400-26138200	Enhancers	GM12878-XiMat	blood

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