Variant report

Variant	nsv830920
Chromosome Location	chr7:21014535-21201580
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:18)
LncRNA
region (count:10)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:21121676..21124041-chr7:21125011..21127790,2	MCF-7	breast:
2	chr7:21098344..21100554-chr7:21116053..21118075,2	MCF-7	breast:
3	chr7:21030959..21031728-chr7:21293405..21294297,3	MCF-7	breast:
4	chr7:21030868..21031815-chr7:21293621..21294401,4	MCF-7	breast:
5	chr7:21098344..21100554-chr7:21116053..21118075,2	MCF-7	breast:
6	chr7:21085592..21088461-chr7:21092552..21094323,2	MCF-7	breast:
7	chr7:21165568..21168346-chr7:21168839..21171370,2	MCF-7	breast:
8	chr7:21037545..21039911-chr7:21040788..21043739,2	MCF-7	breast:
9	chr7:21194952..21197054-chr7:21211805..21213691,2	MCF-7	breast:
10	chr7:21037545..21039911-chr7:21040788..21043739,2	MCF-7	breast:
11	chr7:21028658..21031192-chr7:21285950..21288687,2	MCF-7	breast:
12	chr7:21085592..21088461-chr7:21092552..21094323,2	MCF-7	breast:
13	chr7:21165568..21168346-chr7:21168839..21171370,2	MCF-7	breast:
14	chr7:21121676..21124041-chr7:21125011..21127790,2	MCF-7	breast:
15	chr7:21122637..21125555-chr7:21127865..21130767,4	K562	blood:
16	chr7:21122637..21125555-chr7:21127865..21130767,4	K562	blood:
17	chr7:21030941..21031589-chr7:21290459..21291400,3	MCF-7	breast:
18	chr7:21063002..21063945-chr7:21290594..21291415,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ABCB5-1	chr7:21036845-21037627	NONHSAT119439
2	lnc-ABCB5-1	chr7:21062751-21062767	ENSG00000232790.2
3	lnc-ABCB5-1	chr7:21061478-21061526	ENSG00000232790.2
4	lnc-ABCB5-1	chr7:21061676-21061771	ENSG00000232790.1
5	lnc-ABCB5-1	chr7:21032500-21033057	NONHSAT119439
6	lnc-ABCB5-1	chr7:21061676-21061844	NONHSAT119439
7	lnc-ABCB5-1	chr7:21061478-21061526	ENSG00000232790.1
8	lnc-ABCB5-1	chr7:21060487-21060622	ENSG00000232790.1
9	lnc-ABCB5-1	chr7:21061676-21061769	ENSG00000232790.2
10	lnc-ABCB5-1	chr7:21060487-21060622	ENSG00000232790.2

No data

Extended variants
information (count: 7158 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:7158 , 50 per page) page: 1 2 3 4 5 6 7 ... 144

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs528691032	chr7:21014649-21014650	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs548537629	chr7:21014792-21014793	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs568720271	chr7:21014836-21014837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs34594324	chr7:21014850-21014851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs375245823	chr7:21014867-21014868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs556579353	chr7:21014890-21014891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs62441689	chr7:21014892-21014893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs200684079	chr7:21014895-21014896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs398003927	chr7:21014903-21014904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs185158884	chr7:21014993-21014994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs150456610	chr7:21014999-21015000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs538697530	chr7:21015008-21015009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs145345280	chr7:21015028-21015029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs565683987	chr7:21015029-21015030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs189531205	chr7:21015031-21015032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs554502405	chr7:21015078-21015079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs116162760	chr7:21015161-21015162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs543335870	chr7:21015166-21015167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs556904974	chr7:21015179-21015180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs576837343	chr7:21015182-21015183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs374610649	chr7:21015219-21015220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs545848699	chr7:21015242-21015243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs148860948	chr7:21015243-21015244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs573288224	chr7:21015287-21015288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs12700247	chr7:21015297-21015298	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs562163494	chr7:21015318-21015319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs575180360	chr7:21015327-21015328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs143489534	chr7:21015352-21015353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs551304106	chr7:21015426-21015427	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs563227842	chr7:21015446-21015447	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs532141219	chr7:21015450-21015451	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs552244189	chr7:21015537-21015538	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs565752280	chr7:21015560-21015561	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs534448868	chr7:21015565-21015566	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs548339090	chr7:21015614-21015615	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs568179550	chr7:21015624-21015625	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs62441690	chr7:21015634-21015635	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs75184558	chr7:21015636-21015637	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs398085627	chr7:21015646-21015647	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs183273063	chr7:21015682-21015683	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs10499517	chr7:21015689-21015690	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs188928152	chr7:21015703-21015704	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs553117560	chr7:21015707-21015708	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs555170772	chr7:21015739-21015740	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs541971331	chr7:21015779-21015780	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs562267193	chr7:21015802-21015803	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs193247390	chr7:21015837-21015838	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs77845707	chr7:21015869-21015870	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs564760521	chr7:21015884-21015885	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs73268093	chr7:21015910-21015911	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

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
Prostate cancer	16573809	CNVD
Acute myeloid leukemia	21251322	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
Abnormal phenotypes	18644119	CNVD
Non-syndromic sensorineural hearing loss	22570644	CNVD
Cancer	21183584	CNVD
abnormal development	18461090	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	21785460	CNVD
Lung cancer	16773561	CNVD
Schizophrenia	19546859	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:630 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:21004200-21028000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr7:21011000-21014600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr7:21014600-21014800	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr7:21015400-21016400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr7:21017200-21017600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr7:21017200-21017600	Enhancers	HMEC	breast
7	chr7:21019800-21020200	Enhancers	Pancreas	Pancrea
8	chr7:21020000-21020600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr7:21020000-21020600	Enhancers	Fetal Lung	lung
10	chr7:21020200-21020800	Enhancers	Primary hematopoietic stem cells	blood
11	chr7:21020200-21020800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr7:21020200-21020800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr7:21020400-21020800	Enhancers	Fetal Stomach	stomach
14	chr7:21025000-21025800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr7:21025800-21026800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr7:21026800-21028400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr7:21028000-21028600	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr7:21028400-21028600	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr7:21028600-21031400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr7:21028600-21032200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr7:21031200-21031400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr7:21031400-21031600	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr7:21031400-21031800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr7:21031800-21032800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr7:21033000-21033200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr7:21033200-21033600	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
27	chr7:21033600-21037800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr7:21034000-21037600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr7:21036800-21039000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr7:21037000-21039000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr7:21037000-21039000	Enhancers	HMEC	breast
32	chr7:21037000-21039000	Enhancers	NHEK	skin
33	chr7:21037000-21039200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr7:21037400-21038400	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr7:21037600-21038000	Enhancers	iPS-15b Cell Line	embryonic stem cell
36	chr7:21037600-21038400	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr7:21037600-21038400	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chr7:21037600-21038400	Enhancers	iPS-20b Cell Line	embryonic stem cell
39	chr7:21037800-21038200	Enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr7:21037800-21038400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
41	chr7:21037800-21038400	Enhancers	HepG2	liver
42	chr7:21038000-21039800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr7:21038400-21043200	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr7:21038400-21044200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
45	chr7:21039000-21044800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr7:21039800-21040200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr7:21042200-21042400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
48	chr7:21044800-21045800	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr7:21045400-21047000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr7:21045800-21046800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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