Variant report

Variant	nsv882750
Chromosome Location	chr5:116252792-116292091
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:6)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:116197562..116200213-chr5:116281914..116283961,2	MCF-7	breast:
2	chr5:115473291..115473804-chr5:116283477..116284254,2	MCF-7	breast:
3	chr5:116274317..116277091-chr5:116277592..116280132,2	MCF-7	breast:
4	chr5:116274317..116277091-chr5:116277592..116280132,2	MCF-7	breast:
5	chr5:115911257..115912668-chr5:116283296..116284268,6	MCF-7	breast:
6	chr5:115911320..115912473-chr5:116283341..116284236,4	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-COMMD10-11	chr5:116281744-116281873	NONHSAT103381
2	lnc-COMMD10-11	chr5:116282030-116282143	NONHSAT103381

No data

Extended variants
information (count: 1562 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:1562 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1284011	chr5:116252792-116252793	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
2	rs558558211	chr5:116252800-116252801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs563338779	chr5:116252814-116252815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs572036020	chr5:116252833-116252834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs79423140	chr5:116252834-116252835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs75374567	chr5:116252837-116252838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs145480934	chr5:116252842-116252843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs189255391	chr5:116252923-116252924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs112359181	chr5:116252942-116252943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs376574135	chr5:116252950-116252951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs113909836	chr5:116252960-116252961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs543495209	chr5:116252971-116252972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs181521873	chr5:116252981-116252982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs532585079	chr5:116252982-116252983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs552865299	chr5:116252985-116252986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs148401988	chr5:116253004-116253005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs528752779	chr5:116253029-116253030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs185035935	chr5:116253059-116253060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs559780951	chr5:116253067-116253068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs537198292	chr5:116253082-116253083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs78074839	chr5:116253100-116253101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs112528407	chr5:116253112-116253113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs144164144	chr5:116253122-116253123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs538434018	chr5:116253128-116253129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs189518427	chr5:116253131-116253132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs542303481	chr5:116253134-116253135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs146512585	chr5:116253135-116253136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs554606376	chr5:116253226-116253227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs528070446	chr5:116253313-116253314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs529318089	chr5:116253329-116253330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs574481101	chr5:116253337-116253338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs368763695	chr5:116253363-116253364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs543582890	chr5:116253364-116253365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs182281812	chr5:116253401-116253402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs185974578	chr5:116253433-116253434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs546099758	chr5:116253434-116253435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs74596808	chr5:116253451-116253452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs189306459	chr5:116253452-116253453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs548472052	chr5:116253459-116253460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs561790125	chr5:116253468-116253469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs200440898	chr5:116253476-116253477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs113356109	chr5:116253477-116253478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs80117041	chr5:116253489-116253490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs530801278	chr5:116253498-116253499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs528989389	chr5:116253500-116253501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs11747127	chr5:116253557-116253558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs111668638	chr5:116253564-116253565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs570878654	chr5:116253576-116253577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs371409991	chr5:116253607-116253608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs533433163	chr5:116253635-116253636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

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
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:262 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:116252400-116258800	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr5:116257000-116259400	Enhancers	GM12878-XiMat	blood
3	chr5:116257200-116259200	Enhancers	iPS-20b Cell Line	embryonic stem cell
4	chr5:116257400-116259200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr5:116258400-116259200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr5:116258400-116260000	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr5:116258600-116259000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr5:116258600-116259400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
9	chr5:116258800-116259000	Enhancers	H9 Cell Line	embryonic stem cell
10	chr5:116258800-116259200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr5:116258800-116259200	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr5:116258800-116259400	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr5:116258800-116259400	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr5:116258800-116259400	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr5:116258800-116259400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr5:116258800-116259600	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr5:116259400-116261800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr5:116263000-116263200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr5:116266000-116266200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr5:116266000-116268400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr5:116266400-116268000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr5:116267400-116269000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr5:116268000-116269800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr5:116268400-116274000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr5:116269000-116274000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr5:116269600-116269800	Enhancers	Fetal Muscle Leg	muscle
27	chr5:116269800-116271000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr5:116270200-116271400	Weak transcription	Fetal Muscle Leg	muscle
29	chr5:116271400-116271800	Enhancers	Fetal Muscle Leg	muscle
30	chr5:116271400-116273600	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr5:116271800-116274200	Weak transcription	Fetal Muscle Leg	muscle
32	chr5:116272400-116272600	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr5:116272600-116272800	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr5:116272600-116273400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr5:116272600-116275600	Enhancers	Right Ventricle	heart
36	chr5:116272800-116273000	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr5:116272800-116273000	Enhancers	H9 Cell Line	embryonic stem cell
38	chr5:116272800-116275600	Enhancers	Left Ventricle	heart
39	chr5:116273000-116276800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr5:116273000-116276800	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr5:116273400-116274600	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr5:116273400-116275600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
43	chr5:116273600-116274000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
44	chr5:116273600-116274000	Enhancers	iPS-20b Cell Line	embryonic stem cell
45	chr5:116273600-116274200	Enhancers	HUES6 Cell Line	embryonic stem cell
46	chr5:116273600-116274400	Enhancers	HUES48 Cell Line	embryonic stem cell
47	chr5:116273600-116274400	Enhancers	HUES64 Cell Line	embryonic stem cell
48	chr5:116273800-116277400	Enhancers	iPS-15b Cell Line	embryonic stem cell
49	chr5:116274000-116274200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
50	chr5:116274000-116274200	Enhancers	Brain Inferior Temporal Lobe	brain

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