Variant report

Variant	nsv830909
Chromosome Location	chr7:13692329-13868294
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:10)
LncRNA
region (count:10)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:13859282..13862271-chr7:13864269..13866964,2	K562	blood:
2	chr7:13321441..13322985-chr7:13782052..13783356,4	MCF-7	breast:
3	chr17:57922547..57924821-chr7:13833856..13835517,2	MCF-7	breast:
4	chr7:13726746..13728268-chr7:14029761..14031968,2	K562	blood:
5	chr7:13739444..13741121-chr7:14029651..14032169,2	K562	blood:
6	chr7:13338594..13340126-chr7:13765044..13766926,2	K562	blood:
7	chr7:13319346..13320250-chr7:13765396..13766149,2	MCF-7	breast:
8	chr7:13859282..13862271-chr7:13864269..13866964,2	K562	blood:
9	chr7:13321927..13322595-chr7:13765268..13765848,2	MCF-7	breast:
10	chr7:13321708..13322614-chr7:13781609..13782954,4	MCF-7	breast:

(count:10 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ETV1-3	chr7:13860505-13860772	NONHSAT119257
2	lnc-ARL4A-2	chr7:13770980-13771177	FPKM1_group_29192_transcript_5
3	lnc-ARL4A-2	chr7:13783062-13783205	XLOC_005989
4	lnc-ARL4A-2	chr7:13770981-13771177	XLOC_005989
5	lnc-ARL4A-2	chr7:13770980-13771177	NONHSAT119255
6	lnc-ETV1-3	chr7:13865085-13865175	NONHSAT119257
7	lnc-ARL4A-7	chr7:13710212-13710299	NONHSAT119248
8	lnc-ARL4A-1	chr7:13743687-13743774	XLOC_005988
9	lnc-ARL4A-2	chr7:13772127-13773383	FPKM1_group_29192_transcript_5
10	lnc-ARL4A-2	chr7:13782450-13783706	NONHSAT119255

No data

Variant related genes	Relation type
ENSG00000006468	chromatin interactions

Extended variants
information (count: 4923 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:4923 , 50 per page) page: 1 2 3 4 5 6 7 ... 99

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1404943	chr7:13692409-13692410	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs148395631	chr7:13692431-13692432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs67412940	chr7:13692459-13692460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs35520960	chr7:13692460-13692461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs202012139	chr7:13692461-13692462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs3062596	chr7:13692470-13692471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs201499051	chr7:13692471-13692472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs561962080	chr7:13692473-13692474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs527917070	chr7:13692482-13692483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs547655150	chr7:13692483-13692484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs572526639	chr7:13692492-13692493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs377267438	chr7:13692514-13692515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs113854129	chr7:13692520-13692521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs113553039	chr7:13692529-13692530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs575552878	chr7:13692554-13692555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs549750754	chr7:13692635-13692636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs73260992	chr7:13692636-13692637	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs561399234	chr7:13692659-13692660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs535763308	chr7:13692685-13692686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs182830591	chr7:13692690-13692691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs565957850	chr7:13692694-13692695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs7787152	chr7:13692790-13692791	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs187952946	chr7:13692795-13692796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs546979532	chr7:13692811-13692812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs560240219	chr7:13692817-13692818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs532532212	chr7:13692841-13692842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs7786891	chr7:13692843-13692844	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs189690608	chr7:13692864-13692865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs11975756	chr7:13692924-13692925	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs562074090	chr7:13692945-13692946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs527976020	chr7:13692966-13692967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs199673061	chr7:13693014-13693015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs541654277	chr7:13693023-13693024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs17167319	chr7:13693060-13693061	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs533066097	chr7:13693068-13693069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs548347712	chr7:13693071-13693072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs200048643	chr7:13693082-13693083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs549575735	chr7:13693111-13693112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs142498962	chr7:13693119-13693120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs528922991	chr7:13693123-13693124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs183541949	chr7:13693175-13693176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs566019768	chr7:13693213-13693214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs534572540	chr7:13693215-13693216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs112569857	chr7:13693219-13693220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs192276284	chr7:13693252-13693253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs185230959	chr7:13693258-13693259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs150939997	chr7:13693272-13693273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs556274909	chr7:13693299-13693300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs576108490	chr7:13693348-13693349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs188246719	chr7:13693357-13693358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

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	22037309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:335 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:13688600-13697600	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr7:13696200-13697800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr7:13696200-13698000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr7:13697600-13698200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
5	chr7:13712600-13714800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr7:13713000-13713200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr7:13713000-13713200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr7:13713200-13717600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr7:13713200-13719000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr7:13717200-13718200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
11	chr7:13717600-13718000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
12	chr7:13720800-13721400	Enhancers	Primary neutrophils fromperipheralblood	blood
13	chr7:13735200-13735800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr7:13737400-13741800	Weak transcription	Fetal Brain Male	brain
15	chr7:13741800-13742000	Enhancers	Fetal Brain Male	brain
16	chr7:13742200-13742400	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr7:13742400-13743000	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr7:13742600-13743600	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr7:13743000-13743600	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr7:13743200-13744000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr7:13743600-13744000	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr7:13743600-13745400	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr7:13745400-13746400	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr7:13745600-13745800	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr7:13752800-13753400	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr7:13753200-13753600	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr7:13753200-13753800	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr7:13753400-13755200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr7:13754000-13756200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr7:13755000-13755600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr7:13757600-13758000	Enhancers	Fetal Heart	heart
32	chr7:13758000-13758200	Enhancers	Fetal Brain Male	brain
33	chr7:13763800-13764800	Enhancers	Fetal Brain Female	brain
34	chr7:13764000-13764400	Enhancers	Pancreatic Islets	Pancreatic Islet
35	chr7:13764000-13765000	Enhancers	Fetal Brain Male	brain
36	chr7:13764400-13765400	Active TSS	Pancreatic Islets	Pancreatic Islet
37	chr7:13764600-13764800	Enhancers	Osteobl	bone
38	chr7:13764600-13765200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr7:13764800-13765200	Flanking Active TSS	Osteobl	bone
40	chr7:13765000-13766800	Weak transcription	Fetal Brain Male	brain
41	chr7:13767000-13767200	Enhancers	Fetal Brain Male	brain
42	chr7:13768000-13768200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
43	chr7:13770600-13772000	Enhancers	Muscle Satellite Cultured Cells	--
44	chr7:13770800-13772000	Enhancers	Osteobl	bone
45	chr7:13780400-13783800	Enhancers	Breast Myoepithelial Primary Cells	Breast
46	chr7:13780800-13783200	Enhancers	HSMM	muscle
47	chr7:13780800-13783600	Enhancers	Osteobl	bone
48	chr7:13781000-13781200	Enhancers	Colon Smooth Muscle	Colon
49	chr7:13781000-13782600	Enhancers	Fetal Heart	heart
50	chr7:13781200-13782200	Weak transcription	Colon Smooth Muscle	Colon

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