Variant report

Variant	esv3338823
Chromosome Location	chr7:7581527-7585825
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	chr7:7582529..7585016-chr7:7587079..7589582,2	K562	blood:
2	chr7:7463756..7464685-chr7:7580802..7582089,8	MCF-7	breast:
3	chr7:7465052..7465954-chr7:7580703..7581616,2	K562	blood:
4	chr7:7142758..7143661-chr7:7580812..7581638,2	MCF-7	breast:
5	chr7:7463681..7464442-chr7:7580757..7581561,4	K562	blood:
6	chr7:7463700..7464480-chr7:7580427..7581567,10	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MIOS-4	chr7:7583810-7584201	expReg_chr7_675_+

No data

Extended variants
information (count: 149 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:149 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549148230	chr7:7581551-7581552	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs369723169	chr7:7581568-7581569	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs200508576	chr7:7581572-7581573	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs543866213	chr7:7581573-7581574	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs74397999	chr7:7581584-7581585	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs398003568	chr7:7581585-7581586	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs571986802	chr7:7581608-7581609	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs187558870	chr7:7581627-7581628	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs10246969	chr7:7581648-7581649	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs373600014	chr7:7581661-7581662	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs541570768	chr7:7581670-7581671	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs559794108	chr7:7581672-7581673	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs536326176	chr7:7581676-7581677	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs372225804	chr7:7581708-7581709	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs567375322	chr7:7581709-7581710	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs552320160	chr7:7581711-7581712	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs554392331	chr7:7581719-7581720	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs572690896	chr7:7581743-7581744	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs533698591	chr7:7581746-7581747	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs374595151	chr7:7581749-7581750	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs190917690	chr7:7581750-7581751	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs144479287	chr7:7581752-7581753	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs569321658	chr7:7581816-7581817	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs536629021	chr7:7581839-7581840	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs10247226	chr7:7581841-7581842	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs142381072	chr7:7581846-7581847	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs534148980	chr7:7581866-7581867	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs559059494	chr7:7581893-7581894	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs150906178	chr7:7581895-7581896	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs140189700	chr7:7581901-7581902	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs184055735	chr7:7581907-7581908	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs544424562	chr7:7581924-7581925	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs60663837	chr7:7581944-7581945	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs374447561	chr7:7581991-7581992	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs541392018	chr7:7581992-7581993	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs578211253	chr7:7582014-7582015	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs145389950	chr7:7582019-7582020	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs537898319	chr7:7582022-7582023	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs527334226	chr7:7582032-7582033	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs545690241	chr7:7582035-7582036	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs10244335	chr7:7582037-7582038	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs78161095	chr7:7582040-7582041	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs368694570	chr7:7582045-7582046	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs550130396	chr7:7582076-7582077	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs568349772	chr7:7582179-7582180	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs530130646	chr7:7582192-7582193	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs147664096	chr7:7582201-7582202	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs187454050	chr7:7582233-7582234	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs534256866	chr7:7582242-7582243	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs142464404	chr7:7582247-7582248	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

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
Breast cancer	22522925	CNVD
Lung adenocarcinoma	21935476	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:7575800-7593000	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr7:7580600-7582600	Enhancers	Muscle Satellite Cultured Cells	--
3	chr7:7581200-7581600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr7:7581200-7581800	Enhancers	Liver	Liver
5	chr7:7581200-7582600	Enhancers	HepG2	liver
6	chr7:7581400-7582200	Enhancers	Rectal Mucosa Donor 29	rectum
7	chr7:7581400-7582400	Enhancers	A549	lung
8	chr7:7581800-7582200	Flanking Active TSS	Liver	Liver
9	chr7:7581800-7595800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr7:7582200-7582600	Enhancers	Liver	Liver
11	chr7:7582600-7588000	Weak transcription	Liver	Liver
12	chr7:7582600-7589600	Weak transcription	Muscle Satellite Cultured Cells	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links