Variant report

Variant	nsv599491
Chromosome Location	chr5:117286831-117376303
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:29)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:29 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:116822579..116823522-chr5:117345341..117346279,5	MCF-7	breast:
2	chr5:117345254..117346267-chr5:117474942..117475858,13	MCF-7	breast:
3	chr5:117345305..117346362-chr5:117474865..117475949,14	MCF-7	breast:
4	chr5:117347395..117349488-chr5:117350615..117352225,2	MCF-7	breast:
5	chr5:117290251..117292922-chr5:117295708..117298452,2	K562	blood:
6	chr5:117357636..117358157-chr5:117474927..117475609,2	MCF-7	breast:
7	chr5:117329526..117331412-chr5:117334401..117335958,2	MCF-7	breast:
8	chr5:117345316..117346227-chr5:118111319..118112071,2	MCF-7	breast:
9	chr1:120217504..120218053-chr5:117348657..117349312,2	MCF-7	breast:
10	chr5:116790507..116792184-chr5:117345350..117346963,2	MCF-7	breast:
11	chr5:117348230..117352164-chr5:117354348..117358025,4	MCF-7	breast:
12	chr5:117345372..117346225-chr5:117357513..117358341,4	MCF-7	breast:
13	chr5:117326789..117327367-chr5:117345464..117346258,2	MCF-7	breast:
14	chr5:117345316..117346232-chr5:118111290..118112171,4	MCF-7	breast:
15	chr5:117281554..117282055-chr5:117345500..117346273,2	MCF-7	breast:
16	chr5:116752873..116753980-chr5:117345444..117346250,3	MCF-7	breast:
17	chr5:117348230..117352164-chr5:117354348..117358025,4	MCF-7	breast:
18	chr5:117345300..117346190-chr5:117357499..117358381,2	MCF-7	breast:
19	chr5:117290251..117292922-chr5:117295708..117298452,2	K562	blood:
20	chr5:117345305..117346227-chr5:117474940..117475818,10	MCF-7	breast:
21	chr5:117345575..117346316-chr5:118111227..118112029,2	MCF-7	breast:
22	chr5:117347395..117349488-chr5:117350615..117352225,2	MCF-7	breast:
23	chr5:116822796..116823373-chr5:117345646..117346259,4	MCF-7	breast:
24	chr5:117345372..117346225-chr5:117357513..117358341,4	MCF-7	breast:
25	chr5:116822477..116823522-chr5:117345341..117346321,14	MCF-7	breast:
26	chr5:117329526..117331412-chr5:117334401..117335958,2	MCF-7	breast:
27	chr5:117347018..117349596-chr5:117474146..117475861,2	MCF-7	breast:
28	chr5:117326789..117327367-chr5:117345464..117346258,2	MCF-7	breast:
29	chr5:117345300..117346190-chr5:117357499..117358381,2	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
ENSG00000248663	chromatin interactions

Extended variants
information (count: 1184 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:1184 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532871222	chr5:117287646-117287647	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs568597898	chr5:117287684-117287685	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs552479308	chr5:117287688-117287689	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs376660591	chr5:117287716-117287717	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs557932102	chr5:117287729-117287730	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs189279463	chr5:117287737-117287738	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs534049701	chr5:117287747-117287748	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs180917931	chr5:117287752-117287753	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs376041288	chr5:117287753-117287754	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs554121927	chr5:117287757-117287758	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs183952468	chr5:117287760-117287761	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs542221452	chr5:117287767-117287768	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs562099281	chr5:117287771-117287772	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs111269228	chr5:117287814-117287815	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs575799184	chr5:117287835-117287836	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs111543146	chr5:117287841-117287842	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs544384030	chr5:117287862-117287863	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs564661257	chr5:117287879-117287880	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs116502809	chr5:117287887-117287888	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs371214367	chr5:117287904-117287905	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs547245690	chr5:117287953-117287954	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs17143401	chr5:117287958-117287959	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs116275367	chr5:117287964-117287965	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs374684377	chr5:117287966-117287967	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs569328106	chr5:117287975-117287976	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs17143412	chr5:117287985-117287986	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs117808486	chr5:117288035-117288036	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs201048223	chr5:117288040-117288041	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs377480597	chr5:117288052-117288053	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs574596060	chr5:117288064-117288065	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs373029242	chr5:117288075-117288076	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs535582682	chr5:117288082-117288083	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs371192023	chr5:117288100-117288101	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs113659504	chr5:117288125-117288126	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs573966820	chr5:117288157-117288158	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs557087560	chr5:117288165-117288166	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs536589869	chr5:117288197-117288198	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs142363924	chr5:117290007-117290008	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs151269575	chr5:117290018-117290019	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs549993755	chr5:117290022-117290023	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs549035430	chr5:117290031-117290032	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs140581590	chr5:117290052-117290053	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs532262972	chr5:117290073-117290074	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs537673432	chr5:117290085-117290086	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs552457017	chr5:117290120-117290121	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs565865383	chr5:117290156-117290157	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs571513694	chr5:117290176-117290177	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs534557481	chr5:117290204-117290205	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs183116421	chr5:117290217-117290218	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs144215646	chr5:117290221-117290222	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

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

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:117287600-117288200	Enhancers	Psoas Muscle	Psoas
2	chr5:117290000-117290800	Enhancers	NHDF-Ad	bronchial
3	chr5:117290200-117290600	Enhancers	Liver	Liver
4	chr5:117298000-117298200	Enhancers	Colon Smooth Muscle	Colon
5	chr5:117298000-117298800	Enhancers	Rectal Smooth Muscle	rectum
6	chr5:117298200-117299200	Weak transcription	Colon Smooth Muscle	Colon
7	chr5:117298800-117304200	Weak transcription	Rectal Smooth Muscle	rectum
8	chr5:117299200-117300000	Enhancers	Colon Smooth Muscle	Colon
9	chr5:117299400-117299600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr5:117299800-117301000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr5:117300000-117302000	Weak transcription	Colon Smooth Muscle	Colon
12	chr5:117300400-117300800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr5:117301000-117301400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr5:117301000-117303400	Weak transcription	Left Ventricle	heart
15	chr5:117302000-117302800	Enhancers	Colon Smooth Muscle	Colon
16	chr5:117302800-117304800	Weak transcription	Colon Smooth Muscle	Colon
17	chr5:117304200-117306200	Enhancers	Rectal Smooth Muscle	rectum
18	chr5:117304600-117305600	Enhancers	Duodenum Smooth Muscle	Duodenum
19	chr5:117304800-117305600	Enhancers	Fetal Stomach	stomach
20	chr5:117304800-117305600	Enhancers	Stomach Smooth Muscle	stomach
21	chr5:117304800-117305800	Enhancers	Colon Smooth Muscle	Colon
22	chr5:117309000-117310600	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr5:117309200-117310000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr5:117309200-117310200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr5:117309400-117310200	Enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr5:117309400-117310400	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr5:117309400-117310400	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr5:117310000-117310400	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr5:117318200-117318800	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr5:117318200-117318800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr5:117318200-117318800	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr5:117318200-117318800	Enhancers	Adipose Nuclei	Adipose
33	chr5:117318200-117319200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr5:117318400-117318600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr5:117318400-117318800	Enhancers	HUES6 Cell Line	embryonic stem cell
36	chr5:117318400-117318800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr5:117318600-117319000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr5:117318600-117319200	Enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr5:117319000-117320200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr5:117320400-117320600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr5:117329800-117330200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr5:117329800-117330200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr5:117329800-117330400	Enhancers	HMEC	breast
44	chr5:117335800-117336000	Enhancers	HSMMtube	muscle
45	chr5:117335800-117336200	Enhancers	Ovary	ovary
46	chr5:117335800-117336800	Enhancers	Fetal Heart	heart
47	chr5:117336000-117336600	Enhancers	Fetal Muscle Leg	muscle
48	chr5:117336000-117336600	Enhancers	Right Ventricle	heart
49	chr5:117336000-117336600	Enhancers	GM12878-XiMat	blood
50	chr5:117336800-117341600	Weak transcription	Fetal Heart	heart

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