Variant report

Variant	nsv1016903
Chromosome Location	chr5:117301623-117483934
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:39)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:39 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:117345316..117346227-chr5:118111319..118112071,2	MCF-7	breast:
2	chr5:117347395..117349488-chr5:117350615..117352225,2	MCF-7	breast:
3	chr1:120217504..120218053-chr5:117348657..117349312,2	MCF-7	breast:
4	chr5:117357636..117358157-chr5:117474927..117475609,2	MCF-7	breast:
5	chr5:117347395..117349488-chr5:117350615..117352225,2	MCF-7	breast:
6	chr5:117345575..117346316-chr5:118111227..118112029,2	MCF-7	breast:
7	chr5:117345372..117346225-chr5:117357513..117358341,4	MCF-7	breast:
8	chr5:117377675..117379711-chr5:117380055..117382328,2	MCF-7	breast:
9	chr5:117348230..117352164-chr5:117354348..117358025,4	MCF-7	breast:
10	chr5:117345300..117346190-chr5:117357499..117358381,2	MCF-7	breast:
11	chr5:116752873..116753980-chr5:117345444..117346250,3	MCF-7	breast:
12	chr5:117345254..117346267-chr5:117474942..117475858,13	MCF-7	breast:
13	chr5:117345305..117346227-chr5:117474940..117475818,10	MCF-7	breast:
14	chr5:117393514..117395795-chr9:96212246..96215185,2	MCF-7	breast:
15	chr5:117345305..117346362-chr5:117474865..117475949,14	MCF-7	breast:
16	chr5:116822796..116823373-chr5:117345646..117346259,4	MCF-7	breast:
17	chr5:117345305..117346362-chr5:117474865..117475949,14	MCF-7	breast:
18	chr5:116822600..116823429-chr5:117474971..117475497,2	MCF-7	breast:
19	chr5:117329526..117331412-chr5:117334401..117335958,2	MCF-7	breast:
20	chr5:116790507..116792184-chr5:117345350..117346963,2	MCF-7	breast:
21	chr5:117348230..117352164-chr5:117354348..117358025,4	MCF-7	breast:
22	chr5:117281554..117282055-chr5:117345500..117346273,2	MCF-7	breast:
23	chr5:117433192..117435402-chr5:117438097..117440516,2	MCF-7	breast:
24	chr5:117347018..117349596-chr5:117474146..117475861,2	MCF-7	breast:
25	chr5:117433192..117435402-chr5:117438097..117440516,2	MCF-7	breast:
26	chr5:117347018..117349596-chr5:117474146..117475861,2	MCF-7	breast:
27	chr5:117345300..117346190-chr5:117357499..117358381,2	MCF-7	breast:
28	chr5:117357636..117358157-chr5:117474927..117475609,2	MCF-7	breast:
29	chr5:117345305..117346227-chr5:117474940..117475818,10	MCF-7	breast:
30	chr5:117326789..117327367-chr5:117345464..117346258,2	MCF-7	breast:
31	chr5:116822477..116823522-chr5:117345341..117346321,14	MCF-7	breast:
32	chr5:117425163..117426019-chr8:96717892..96718447,2	MCF-7	breast:
33	chr5:117377675..117379711-chr5:117380055..117382328,2	MCF-7	breast:
34	chr5:117345316..117346232-chr5:118111290..118112171,4	MCF-7	breast:
35	chr5:117345372..117346225-chr5:117357513..117358341,4	MCF-7	breast:
36	chr5:117329526..117331412-chr5:117334401..117335958,2	MCF-7	breast:
37	chr5:116822579..116823522-chr5:117345341..117346279,5	MCF-7	breast:
38	chr5:117326789..117327367-chr5:117345464..117346258,2	MCF-7	breast:
39	chr5:117345254..117346267-chr5:117474942..117475858,13	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DMXL1-4	chr5:117331303-117331432	XLOC_004524

No data

Variant related genes	Relation type
ENSG00000188938	chromatin interactions
ENSG00000048828	chromatin interactions
ENSG00000248663	chromatin interactions

Extended variants
information (count: 1973 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:1973 , 50 per page) page: 1 2 3 4 5 6 7 ... 40

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553374	chr5:117301623-117301624	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs531656557	chr5:117301672-117301673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs183315469	chr5:117301703-117301704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs551422	chr5:117301836-117301837	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs55724574	chr5:117301851-117301852	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs554113863	chr5:117301853-117301854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs114949948	chr5:117301881-117301882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs77398211	chr5:117301884-117301885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs142559234	chr5:117301885-117301886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs187509371	chr5:117301889-117301890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs72786747	chr5:117301892-117301893	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs371898513	chr5:117301908-117301909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs115543847	chr5:117301913-117301914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs558665025	chr5:117301932-117301933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs572082598	chr5:117301977-117301978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs191039494	chr5:117301979-117301980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs150944212	chr5:117302017-117302018	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs183091082	chr5:117302035-117302036	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs543327977	chr5:117302072-117302073	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs368170209	chr5:117302097-117302098	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs562512038	chr5:117302101-117302102	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs187723362	chr5:117302109-117302110	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs140684211	chr5:117302115-117302116	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs192695393	chr5:117302157-117302158	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs144918976	chr5:117302219-117302220	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs545501019	chr5:117302259-117302260	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs138767808	chr5:117302313-117302314	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs567664900	chr5:117302343-117302344	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs371972694	chr5:117302379-117302380	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs538376991	chr5:117302489-117302490	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs75346715	chr5:117302506-117302507	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs182813393	chr5:117302555-117302556	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs74409305	chr5:117302560-117302561	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs570392425	chr5:117302569-117302570	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs538624487	chr5:117302581-117302582	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs558630491	chr5:117302615-117302616	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs538433155	chr5:117302643-117302644	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs572058542	chr5:117302644-117302645	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs534428243	chr5:117302648-117302649	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs548632349	chr5:117302657-117302658	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs373870690	chr5:117302658-117302659	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs201144477	chr5:117302696-117302697	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs554714189	chr5:117302746-117302747	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs140380297	chr5:117302769-117302770	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs553663418	chr5:117302775-117302776	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs187489105	chr5:117302815-117302816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs563224975	chr5:117302821-117302822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs576765769	chr5:117302829-117302830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs374307173	chr5:117302866-117302867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs145462102	chr5:117302875-117302876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

Disease	PMID	Source
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
Colorectal cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Prostate cancer	16461572	CNVD
Myelofibrosis	22110671	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Glaucoma	21310917	CNVD
Glioblastoma multiforme	22286061	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Breast cancer	21509527	CNVD
Autism	22543975	CNVD
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Ovarian clear cell carcinoma	21343371	CNVD

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:117298800-117304200	Weak transcription	Rectal Smooth Muscle	rectum
2	chr5:117300000-117302000	Weak transcription	Colon Smooth Muscle	Colon
3	chr5:117301000-117303400	Weak transcription	Left Ventricle	heart
4	chr5:117302000-117302800	Enhancers	Colon Smooth Muscle	Colon
5	chr5:117302800-117304800	Weak transcription	Colon Smooth Muscle	Colon
6	chr5:117304200-117306200	Enhancers	Rectal Smooth Muscle	rectum
7	chr5:117304600-117305600	Enhancers	Duodenum Smooth Muscle	Duodenum
8	chr5:117304800-117305600	Enhancers	Fetal Stomach	stomach
9	chr5:117304800-117305600	Enhancers	Stomach Smooth Muscle	stomach
10	chr5:117304800-117305800	Enhancers	Colon Smooth Muscle	Colon
11	chr5:117309000-117310600	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr5:117309200-117310000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr5:117309200-117310200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr5:117309400-117310200	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr5:117309400-117310400	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr5:117309400-117310400	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr5:117310000-117310400	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr5:117318200-117318800	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr5:117318200-117318800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr5:117318200-117318800	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr5:117318200-117318800	Enhancers	Adipose Nuclei	Adipose
22	chr5:117318200-117319200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr5:117318400-117318600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr5:117318400-117318800	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr5:117318400-117318800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr5:117318600-117319000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr5:117318600-117319200	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr5:117319000-117320200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr5:117320400-117320600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr5:117329800-117330200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr5:117329800-117330200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr5:117329800-117330400	Enhancers	HMEC	breast
33	chr5:117335800-117336000	Enhancers	HSMMtube	muscle
34	chr5:117335800-117336200	Enhancers	Ovary	ovary
35	chr5:117335800-117336800	Enhancers	Fetal Heart	heart
36	chr5:117336000-117336600	Enhancers	Fetal Muscle Leg	muscle
37	chr5:117336000-117336600	Enhancers	Right Ventricle	heart
38	chr5:117336000-117336600	Enhancers	GM12878-XiMat	blood
39	chr5:117336800-117341600	Weak transcription	Fetal Heart	heart
40	chr5:117341600-117342800	Enhancers	Fetal Heart	heart
41	chr5:117342000-117342200	Enhancers	Psoas Muscle	Psoas
42	chr5:117342000-117342800	Enhancers	Colon Smooth Muscle	Colon
43	chr5:117345200-117345800	Enhancers	Fetal Lung	lung
44	chr5:117345200-117345800	Enhancers	Fetal Stomach	stomach
45	chr5:117345200-117345800	Enhancers	Rectal Smooth Muscle	rectum
46	chr5:117345400-117346000	Enhancers	HUES6 Cell Line	embryonic stem cell
47	chr5:117345800-117346800	Weak transcription	Rectal Smooth Muscle	rectum
48	chr5:117346800-117347000	Enhancers	Rectal Smooth Muscle	rectum
49	chr5:117351400-117353400	Enhancers	Fetal Lung	lung
50	chr5:117352400-117352800	Enhancers	Brain Anterior Caudate	brain

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