Variant report

Variant	esv32534
Chromosome Location	chr7:7965319-7968506
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:6)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:7967883..7969895-chr7:8007215..8009286,2	MCF-7	breast:
2	chr7:7960775..7968037-chr7:8006243..8012214,13	MCF-7	breast:
3	chr7:7961731..7965503-chr7:8006784..8010279,5	MCF-7	breast:
4	chr7:7930260..7932176-chr7:7966125..7967661,2	K562	blood:
5	chr1:65350348..65350931-chr7:7966977..7967736,2	MCF-7	breast:
6	chr6:36077762..36078586-chr7:7965279..7966158,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GLCCI1-6	chr7:7968360-7968895	NONHSAT119135

No data

Variant related genes	Relation type
ENSG00000233108	chromatin interactions
ENSG00000106415	chromatin interactions

Extended variants
information (count: 104 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:104 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs369759535	chr7:7965332-7965333	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs545496235	chr7:7965449-7965450	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs564345553	chr7:7965470-7965471	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs576407598	chr7:7965499-7965500	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs543603094	chr7:7965620-7965621	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs561857059	chr7:7965629-7965630	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs554956520	chr7:7965636-7965637	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs529124595	chr7:7965691-7965692	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs74953982	chr7:7965724-7965725	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs560417895	chr7:7965749-7965750	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs371568614	chr7:7965776-7965777	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs139214194	chr7:7965781-7965782	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs185783685	chr7:7965797-7965798	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs376581109	chr7:7965821-7965822	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs550106558	chr7:7965828-7965829	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs551491628	chr7:7965925-7965926	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs2041565	chr7:7966010-7966011	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs553794804	chr7:7966031-7966032	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs572067227	chr7:7966046-7966047	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs539371816	chr7:7966167-7966168	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs145293596	chr7:7966217-7966218	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs371765781	chr7:7966229-7966230	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs576148336	chr7:7966271-7966272	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs543718127	chr7:7966306-7966307	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs147631486	chr7:7966348-7966349	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs74577380	chr7:7966351-7966352	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs140302291	chr7:7966355-7966356	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs190546021	chr7:7966373-7966374	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs181855821	chr7:7966377-7966378	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs73047573	chr7:7966414-7966415	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs527801978	chr7:7966480-7966481	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs192113586	chr7:7966575-7966576	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs144174387	chr7:7966596-7966597	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs545378851	chr7:7966606-7966607	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs375671079	chr7:7966607-7966608	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs73237581	chr7:7966635-7966636	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs184053603	chr7:7966640-7966641	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs568670320	chr7:7966670-7966671	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs187499234	chr7:7966692-7966693	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs547695107	chr7:7966705-7966706	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs565734211	chr7:7966741-7966742	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs560670714	chr7:7966797-7966798	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs35509495	chr7:7966798-7966799	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs566595995	chr7:7966894-7966895	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs373187291	chr7:7966907-7966908	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs78293466	chr7:7966910-7966911	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs189809270	chr7:7966918-7966919	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs147802322	chr7:7966984-7966985	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs148846770	chr7:7966994-7966995	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs143356790	chr7:7967026-7967027	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Ovarian cancer	21720365	CNVD
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
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Acute myeloid leukemia	21251322	CNVD
Melanoma	17363583	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Hirschsprung''s Disease	21712996	CNVD
Glioblastoma multiforme	22286061	CNVD
Non-small cell lung cancer	21829676	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Kartagener syndrome	16639409	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Medulloblastoma	17653508	CNVD
Colorectal cancer	16272173	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
T-cell lymphomas	22341440	CNVD
Pancreatic cancer	17952125	CNVD
Williams Syndrome	20824207	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:7961800-7975800	Weak transcription	Fetal Stomach	stomach
2	chr7:7964400-7968400	Weak transcription	Primary T cells from cord blood	blood
3	chr7:7964400-7982800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr7:7964600-7965400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr7:7964600-7968600	Weak transcription	Stomach Mucosa	stomach
6	chr7:7964600-7973800	Weak transcription	Thymus	Thymus
7	chr7:7966200-7966400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
8	chr7:7968400-7969400	Enhancers	Adipose Nuclei	Adipose

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