Variant report

Variant	nsv1034411
Chromosome Location	chr7:13743365-13826756
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:5)
LncRNA
region (count:7)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:13321708..13322614-chr7:13781609..13782954,4	MCF-7	breast:
2	chr7:13321441..13322985-chr7:13782052..13783356,4	MCF-7	breast:
3	chr7:13321927..13322595-chr7:13765268..13765848,2	MCF-7	breast:
4	chr7:13338594..13340126-chr7:13765044..13766926,2	K562	blood:
5	chr7:13319346..13320250-chr7:13765396..13766149,2	MCF-7	breast:

(count:7 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ARL4A-1	chr7:13743687-13743774	XLOC_005988
2	lnc-ARL4A-2	chr7:13782450-13783706	NONHSAT119255
3	lnc-ARL4A-2	chr7:13770980-13771177	NONHSAT119255
4	lnc-ARL4A-2	chr7:13770980-13771177	FPKM1_group_29192_transcript_5
5	lnc-ARL4A-2	chr7:13770981-13771177	XLOC_005989
6	lnc-ARL4A-2	chr7:13783062-13783205	XLOC_005989
7	lnc-ARL4A-2	chr7:13772127-13773383	FPKM1_group_29192_transcript_5

No data

Extended variants
information (count: 2574 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:2574 , 50 per page) page: 1 2 3 4 5 6 7 ... 52

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13232285	chr7:13743365-13743366	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs116299858	chr7:13743412-13743413	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs2848831	chr7:13743424-13743425	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs544540757	chr7:13743452-13743453	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs17167410	chr7:13743521-13743522	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs530302750	chr7:13743523-13743524	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs535324972	chr7:13743570-13743571	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs547187120	chr7:13743614-13743615	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs141817129	chr7:13743765-13743766	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
10	rs56983480	chr7:13743809-13743810	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs190172708	chr7:13743835-13743836	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs201275804	chr7:13743854-13743855	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs202110788	chr7:13743855-13743856	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs2568645	chr7:13743856-13743857	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs200532391	chr7:13743859-13743860	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs554594216	chr7:13743868-13743869	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs146280115	chr7:13743924-13743925	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs112477244	chr7:13743941-13743942	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs553938815	chr7:13743966-13743967	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs189902894	chr7:13744003-13744004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs576626877	chr7:13744004-13744005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs112828375	chr7:13744005-13744006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs79118157	chr7:13744011-13744012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs80170233	chr7:13744020-13744021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs553869548	chr7:13744023-13744024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs181156237	chr7:13744044-13744045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs77542126	chr7:13744065-13744066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs544617494	chr7:13744117-13744118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs368668749	chr7:13744147-13744148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs201190792	chr7:13744148-13744149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs397789109	chr7:13744165-13744166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs201119161	chr7:13744166-13744167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs78596544	chr7:13744197-13744198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs540523063	chr7:13744239-13744240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs560783812	chr7:13744271-13744272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs17167413	chr7:13744292-13744293	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs550979598	chr7:13744318-13744319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs73254753	chr7:13744369-13744370	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs2528508	chr7:13744387-13744388	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs553431020	chr7:13744389-13744390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs145215593	chr7:13744419-13744420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs574937693	chr7:13744441-13744442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs548181727	chr7:13744452-13744453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs117670949	chr7:13744461-13744462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs112204597	chr7:13744557-13744558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs2848832	chr7:13744564-13744565	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs570349160	chr7:13744606-13744607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs539226092	chr7:13744635-13744636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs555913620	chr7:13744665-13744666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs575350173	chr7:13744693-13744694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Acute myeloid leukemia	21251322	CNVD
Melanoma	17363583	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
Renal cell carcinoma	18194544	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
Myelofibrosis	22110671	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Cancer	17440070	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD

Chromatin state (count:186 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:13742600-13743600	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr7:13743000-13743600	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr7:13743200-13744000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr7:13743600-13744000	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr7:13743600-13745400	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr7:13745400-13746400	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr7:13745600-13745800	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr7:13752800-13753400	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr7:13753200-13753600	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr7:13753200-13753800	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr7:13753400-13755200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr7:13754000-13756200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr7:13755000-13755600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr7:13757600-13758000	Enhancers	Fetal Heart	heart
15	chr7:13758000-13758200	Enhancers	Fetal Brain Male	brain
16	chr7:13763800-13764800	Enhancers	Fetal Brain Female	brain
17	chr7:13764000-13764400	Enhancers	Pancreatic Islets	Pancreatic Islet
18	chr7:13764000-13765000	Enhancers	Fetal Brain Male	brain
19	chr7:13764400-13765400	Active TSS	Pancreatic Islets	Pancreatic Islet
20	chr7:13764600-13764800	Enhancers	Osteobl	bone
21	chr7:13764600-13765200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr7:13764800-13765200	Flanking Active TSS	Osteobl	bone
23	chr7:13765000-13766800	Weak transcription	Fetal Brain Male	brain
24	chr7:13767000-13767200	Enhancers	Fetal Brain Male	brain
25	chr7:13768000-13768200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
26	chr7:13770600-13772000	Enhancers	Muscle Satellite Cultured Cells	--
27	chr7:13770800-13772000	Enhancers	Osteobl	bone
28	chr7:13780400-13783800	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr7:13780800-13783200	Enhancers	HSMM	muscle
30	chr7:13780800-13783600	Enhancers	Osteobl	bone
31	chr7:13781000-13781200	Enhancers	Colon Smooth Muscle	Colon
32	chr7:13781000-13782600	Enhancers	Fetal Heart	heart
33	chr7:13781200-13782200	Weak transcription	Colon Smooth Muscle	Colon
34	chr7:13781200-13782600	Enhancers	Fetal Muscle Leg	muscle
35	chr7:13781200-13783400	Enhancers	HSMMtube	muscle
36	chr7:13781400-13782600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr7:13781400-13783000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr7:13781400-13783000	Enhancers	NH-A	brain
39	chr7:13781400-13783200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr7:13781400-13783200	Enhancers	Fetal Lung	lung
41	chr7:13781400-13783200	Enhancers	NHLF	lung
42	chr7:13781400-13783400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr7:13781400-13783400	Enhancers	Muscle Satellite Cultured Cells	--
44	chr7:13781400-13783600	Enhancers	HUES64 Cell Line	embryonic stem cell
45	chr7:13781400-13783800	Enhancers	Rectal Smooth Muscle	rectum
46	chr7:13781600-13782000	Enhancers	Fetal Kidney	kidney
47	chr7:13781600-13782000	Enhancers	Sigmoid Colon	Sigmoid Colon
48	chr7:13781600-13782000	Enhancers	Stomach Smooth Muscle	stomach
49	chr7:13781600-13782200	Enhancers	Psoas Muscle	Psoas
50	chr7:13781600-13782400	Enhancers	Fetal Stomach	stomach

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