Variant report

Variant	nsv599199
Chromosome Location	chr5:103244640-103264987
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:7)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:103253901..103255465-chr5:103259944..103261720,2	K562	blood:
2	chr5:103249220..103251663-chr5:103417841..103420142,2	K562	blood:
3	chr5:103255422..103257271-chr5:103259768..103262225,2	K562	blood:
4	chr5:103242025..103244376-chr5:103246546..103249360,2	K562	blood:
5	chr5:103253901..103255465-chr5:103259944..103261720,2	K562	blood:
6	chr5:103255422..103257271-chr5:103259768..103262225,2	K562	blood:
7	chr5:103240624..103244376-chr5:103246546..103249672,3	K562	blood:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NUDT12-9	chr5:103249941-103250067	l_2987_chr5:103244051-103254986_brain
2	lnc-NUDT12-9	chr5:103251704-103251784	l_2987_chr5:103244051-103254986_brain
3	lnc-NUDT12-9	chr5:103244052-103245564	l_2987_chr5:103244051-103254986_brain
4	lnc-NUDT12-9	chr5:103254932-103254986	l_2987_chr5:103244051-103254986_brain

No data

Extended variants
information (count: 707 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:707 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs34236	chr5:103244640-103244641	Enhancers Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs545731018	chr5:103244645-103244646	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
3	rs78402741	chr5:103244712-103244713	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
4	rs576124389	chr5:103244715-103244716	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
5	rs59161245	chr5:103244785-103244786	Enhancers Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs562100585	chr5:103244798-103244799	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
7	rs527766842	chr5:103244802-103244803	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
8	rs541169205	chr5:103244808-103244809	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
9	rs564320642	chr5:103244853-103244854	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
10	rs531219788	chr5:103244861-103244862	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
11	rs202240004	chr5:103244930-103244931	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
12	rs562301040	chr5:103244951-103244952	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
13	rs550167681	chr5:103244982-103244983	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
14	rs183087708	chr5:103245040-103245041	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
15	rs115224493	chr5:103245058-103245059	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
16	rs549582654	chr5:103245070-103245071	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
17	rs377093599	chr5:103245097-103245098	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
18	rs35994379	chr5:103245126-103245127	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
19	rs142663405	chr5:103245136-103245137	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
20	rs78852340	chr5:103245181-103245182	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
21	rs78955390	chr5:103245182-103245183	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
22	rs77851623	chr5:103245183-103245184	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
23	rs200915545	chr5:103245199-103245200	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
24	rs77312596	chr5:103245201-103245202	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
25	rs569552806	chr5:103245207-103245208	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
26	rs543744464	chr5:103245212-103245213	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
27	rs547514736	chr5:103245226-103245227	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
28	rs570310195	chr5:103245233-103245234	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
29	rs539432455	chr5:103245265-103245266	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
30	rs373440446	chr5:103245271-103245272	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
31	rs187537941	chr5:103245309-103245310	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
32	rs193071529	chr5:103245317-103245318	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
33	rs535396990	chr5:103245319-103245320	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
34	rs184919928	chr5:103245383-103245384	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
35	rs74894103	chr5:103245435-103245436	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
36	rs189916291	chr5:103245475-103245476	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
37	rs564615467	chr5:103245486-103245487	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
38	rs577925605	chr5:103245490-103245491	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
39	rs192615292	chr5:103245536-103245537	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
40	rs148363822	chr5:103245565-103245566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs537092364	chr5:103245670-103245671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs529601566	chr5:103245690-103245691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs549743686	chr5:103245691-103245692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs141425332	chr5:103245745-103245746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs184494612	chr5:103245867-103245868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs547141360	chr5:103245893-103245894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs150815342	chr5:103245897-103245898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs539189217	chr5:103245935-103245936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs56404466	chr5:103245954-103245955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs73199163	chr5:103245967-103245968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

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
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	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
Retinoblastoma	22278416	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
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Colorectal cancer	16774939	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Ovarian cancer	21720365	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	21509527	CNVD
Breast cancer	16608533	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:103244000-103245000	Enhancers	iPS-15b Cell Line	embryonic stem cell
2	chr5:103244200-103244800	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr5:103244400-103245000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr5:103244400-103245000	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr5:103244400-103245000	Enhancers	Fetal Kidney	kidney
6	chr5:103244400-103245000	Enhancers	Fetal Muscle Leg	muscle
7	chr5:103244800-103252200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr5:103245000-103254400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr5:103246000-103246400	Enhancers	NH-A	brain
10	chr5:103246400-103254000	Weak transcription	NH-A	brain
11	chr5:103248200-103248800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr5:103248200-103250800	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr5:103248800-103254400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr5:103250600-103251200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr5:103250600-103255400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr5:103250800-103251000	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr5:103250800-103251200	Enhancers	Muscle Satellite Cultured Cells	--
18	chr5:103250800-103251200	Enhancers	NHDF-Ad	bronchial
19	chr5:103250800-103251200	Enhancers	Osteobl	bone
20	chr5:103250800-103251600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr5:103251000-103252200	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr5:103251200-103254000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr5:103251200-103254000	Weak transcription	Osteobl	bone
24	chr5:103251200-103254200	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr5:103251400-103251600	Enhancers	Brain Hippocampus Middle	brain
26	chr5:103251400-103251800	Enhancers	HSMMtube	muscle
27	chr5:103251400-103253200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr5:103251600-103252200	Weak transcription	Brain Hippocampus Middle	brain
29	chr5:103251800-103254000	Weak transcription	HSMMtube	muscle
30	chr5:103252200-103252400	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr5:103252200-103252400	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr5:103252200-103252600	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr5:103252200-103252600	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr5:103252200-103252600	Enhancers	iPS-20b Cell Line	embryonic stem cell
35	chr5:103252200-103252600	Enhancers	Brain Cingulate Gyrus	brain
36	chr5:103252200-103252800	Enhancers	Brain Hippocampus Middle	brain
37	chr5:103252200-103253000	Enhancers	Cortex derived primary cultured neurospheres	brain
38	chr5:103252400-103252600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr5:103252400-103254200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr5:103252600-103253200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr5:103252600-103254000	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr5:103252600-103254200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr5:103252600-103254400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr5:103252800-103254200	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr5:103252800-103255000	Weak transcription	Brain Hippocampus Middle	brain
46	chr5:103252800-103259400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr5:103253000-103253200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr5:103253000-103254200	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr5:103253200-103254200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr5:103253200-103254200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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