Variant report

Variant	nsv10533
Chromosome Location	chr4:91842776-91935992
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:8)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr4:91903199..91905652-chr4:91956772..91959683,2	MCF-7	breast:
2	chr4:91852901..91854408-chr4:91856866..91859339,2	MCF-7	breast:
3	chr4:91905983..91908591-chr4:91914277..91915974,2	MCF-7	breast:
4	chr4:91852901..91854408-chr4:91856866..91859339,2	MCF-7	breast:
5	chr4:91871450..91872421-chr4:91953829..91954477,2	MCF-7	breast:
6	chr4:91874557..91876563-chr4:91888568..91890904,2	K562	blood:
7	chr4:91874557..91876563-chr4:91888568..91890904,2	K562	blood:
8	chr4:91905983..91908591-chr4:91914277..91915974,2	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MMRN1-7	chr4:91844521-91844598	NONHSAT097412
2	lnc-MMRN1-7	chr4:91872265-91872463	NONHSAT097412

No data

Extended variants
information (count: 1655 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:1655 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs377441306	chr4:91844000-91844001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs556037956	chr4:91844004-91844005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs575719018	chr4:91844024-91844025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs538410936	chr4:91844026-91844027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs558101731	chr4:91844027-91844028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs577001459	chr4:91844063-91844064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs545966654	chr4:91844070-91844071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs188240880	chr4:91844107-91844108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs538538385	chr4:91844111-91844112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs541730153	chr4:91844115-91844116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs561995189	chr4:91844162-91844163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs530748197	chr4:91844200-91844201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs72665427	chr4:91844237-91844238	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs564175395	chr4:91844242-91844243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs533209435	chr4:91844245-91844246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs546700988	chr4:91844302-91844303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs566497569	chr4:91844317-91844318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs529267849	chr4:91844330-91844331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs72882843	chr4:91844358-91844359	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs142013413	chr4:91844397-91844398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs538194934	chr4:91844420-91844421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs558325400	chr4:91844508-91844509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs377347440	chr4:91844517-91844518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs572494296	chr4:91844530-91844531	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
25	rs553126269	chr4:91844589-91844590	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
26	rs573002835	chr4:91844644-91844645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs541794500	chr4:91844670-91844671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs555110990	chr4:91844684-91844685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs575492874	chr4:91844709-91844710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs200459118	chr4:91844737-91844738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs72882844	chr4:91844794-91844795	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs369015812	chr4:91844883-91844884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs536601711	chr4:91844889-91844890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs72882845	chr4:91844890-91844891	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs540298306	chr4:91844904-91844905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs12647540	chr4:91845040-91845041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs72665428	chr4:91845118-91845119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs529379881	chr4:91845160-91845161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs373843217	chr4:91845162-91845163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs569201345	chr4:91845312-91845313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs78864248	chr4:91845314-91845315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs551795758	chr4:91845385-91845386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs180702053	chr4:91845496-91845497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs7690597	chr4:91845608-91845609	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs142620266	chr4:91845622-91845623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs534368669	chr4:91845743-91845744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs554440827	chr4:91845756-91845757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs566564933	chr4:91845781-91845782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs551040364	chr4:91845783-91845784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs576600179	chr4:91845868-91845869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Breast cancer	16272173	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Multiple myeloma	17550852	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	18414403	CNVD
primary effusion lymphomas	17116491	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Olfactory neuroblastoma	18408657	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Colorectal cancer	20459617	CNVD
Acute monocytic leukemia	16498392	CNVD
Multiple myeloma	16616336	CNVD
Esophageal adenocarcinoma	18820669	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myelofibrosis	22110671	CNVD
Parkinson disease	20877625	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Ovarian cancer	21720365	CNVD
Obesity	20622171	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cancer	20164920	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Cancer	21272361	CNVD

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:91844000-91847000	Weak transcription	Pancreas	Pancrea
2	chr4:91860200-91861800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr4:91860600-91860800	Enhancers	Gastric	stomach
4	chr4:91860800-91869200	Weak transcription	Gastric	stomach
5	chr4:91865600-91865800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr4:91865800-91866200	Active TSS	A549	lung
7	chr4:91866200-91868000	Weak transcription	A549	lung
8	chr4:91867600-91868400	Enhancers	Hela-S3	cervix
9	chr4:91868000-91868400	Enhancers	A549	lung
10	chr4:91868400-91870600	Weak transcription	Hela-S3	cervix
11	chr4:91868400-91871000	Weak transcription	A549	lung
12	chr4:91870600-91871200	Enhancers	Hela-S3	cervix
13	chr4:91871000-91871200	Enhancers	Gastric	stomach
14	chr4:91871000-91871400	Enhancers	A549	lung
15	chr4:91871000-91872200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr4:91871000-91872200	Enhancers	Fetal Intestine Large	intestine
17	chr4:91871000-91872200	Enhancers	Fetal Intestine Small	intestine
18	chr4:91871200-91871400	Enhancers	HUVEC	blood vessel
19	chr4:91871200-91871600	Enhancers	Pancreatic Islets	Pancreatic Islet
20	chr4:91871200-91872000	Flanking Active TSS	Hela-S3	cervix
21	chr4:91871400-91871600	Active TSS	A549	lung
22	chr4:91871400-91871800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr4:91871400-91872000	Enhancers	Fetal Heart	heart
24	chr4:91871400-91872600	Flanking Active TSS	HUVEC	blood vessel
25	chr4:91871600-91871800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr4:91871600-91871800	Flanking Active TSS	Aorta	Aorta
27	chr4:91871600-91871800	Enhancers	Pancreas	Pancrea
28	chr4:91871600-91871800	Flanking Active TSS	A549	lung
29	chr4:91871600-91872000	Enhancers	Fetal Lung	lung
30	chr4:91871600-91872200	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr4:91871600-91872200	Enhancers	Duodenum Mucosa	Duodenum
32	chr4:91871600-91872200	Active TSS	Pancreatic Islets	Pancreatic Islet
33	chr4:91871600-91872200	Enhancers	Rectal Mucosa Donor 29	rectum
34	chr4:91871600-91872400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr4:91871600-91872400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr4:91871600-91872600	Enhancers	NHEK	skin
37	chr4:91871800-91872000	Enhancers	Aorta	Aorta
38	chr4:91871800-91872000	Enhancers	Rectal Smooth Muscle	rectum
39	chr4:91871800-91872600	Enhancers	HUES6 Cell Line	embryonic stem cell
40	chr4:91871800-91872600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr4:91871800-91872600	Active TSS	A549	lung
42	chr4:91871800-91872600	Enhancers	NH-A	brain
43	chr4:91871800-91872800	Enhancers	HMEC	breast
44	chr4:91871800-91879600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr4:91872000-91872200	Enhancers	Colon Smooth Muscle	Colon
46	chr4:91872000-91872600	Enhancers	HUES64 Cell Line	embryonic stem cell
47	chr4:91872000-91872600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr4:91872000-91872800	Weak transcription	Fetal Lung	lung
49	chr4:91872000-91873200	Enhancers	Hela-S3	cervix
50	chr4:91872000-91879600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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