Variant report

Variant	nsv599198
Chromosome Location	chr5:103228629-103258936
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:9)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:103230190..103231786-chr5:103232834..103235097,2	K562	blood:
2	chr5:103249220..103251663-chr5:103417841..103420142,2	K562	blood:
3	chr5:103253901..103255465-chr5:103259944..103261720,2	K562	blood:
4	chr5:103242025..103244376-chr5:103246546..103249360,2	K562	blood:
5	chr5:103255422..103257271-chr5:103259768..103262225,2	K562	blood:
6	chr5:103242025..103244376-chr5:103246546..103249360,2	K562	blood:
7	chr5:103240624..103244376-chr5:103246546..103249672,3	K562	blood:
8	chr5:103240624..103244376-chr5:103246546..103249672,3	K562	blood:
9	chr5:103230190..103231786-chr5:103232834..103235097,2	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	chr5:103254932-103254986	l_2987_chr5:103244051-103254986_brain
3	lnc-NUDT12-9	chr5:103244052-103245564	l_2987_chr5:103244051-103254986_brain
4	lnc-NUDT12-9	chr5:103251704-103251784	l_2987_chr5:103244051-103254986_brain

No data

Extended variants
information (count: 1035 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:1035 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs34249	chr5:103228629-103228630	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs578028641	chr5:103228637-103228638	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs77669346	chr5:103228655-103228656	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs370372990	chr5:103228668-103228669	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs574926788	chr5:103228687-103228688	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs540568011	chr5:103228721-103228722	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs147834925	chr5:103228722-103228723	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs141345817	chr5:103228775-103228776	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs184754197	chr5:103228790-103228791	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs76294350	chr5:103228797-103228798	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs530499013	chr5:103228865-103228866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs189626037	chr5:103228931-103228932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs74500775	chr5:103228933-103228934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs536291737	chr5:103228975-103228976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs180811405	chr5:103228981-103228982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs186532156	chr5:103229034-103229035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs189562289	chr5:103229040-103229041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs181781843	chr5:103229055-103229056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs558764946	chr5:103229086-103229087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs34248	chr5:103229114-103229115	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs561789704	chr5:103229115-103229116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs146972156	chr5:103229159-103229160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs574698205	chr5:103229176-103229177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs540633632	chr5:103229198-103229199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs560592806	chr5:103229227-103229228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs545802971	chr5:103229242-103229243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs186141022	chr5:103229306-103229307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs151016361	chr5:103229329-103229330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs544270193	chr5:103229335-103229336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs140866000	chr5:103229343-103229344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs191551862	chr5:103229429-103229430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs531825802	chr5:103229436-103229437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs150094759	chr5:103229447-103229448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs111690797	chr5:103229500-103229501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs78153002	chr5:103229533-103229534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs528244473	chr5:103229552-103229553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs34247	chr5:103229594-103229595	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs546590213	chr5:103229609-103229610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs566625487	chr5:103229675-103229676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs538910136	chr5:103229676-103229677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs552546568	chr5:103229705-103229706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs569071887	chr5:103229709-103229710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs538042955	chr5:103229710-103229711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs114513783	chr5:103229721-103229722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs574893434	chr5:103229727-103229728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs368121091	chr5:103229744-103229745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs551679218	chr5:103229767-103229768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs115253006	chr5:103229819-103229820	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs554112816	chr5:103229868-103229869	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs527444153	chr5:103229881-103229882	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

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

Chromatin state (count:133 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:103227000-103230400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr5:103227200-103230400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr5:103227200-103230400	Weak transcription	Brain Angular Gyrus	brain
4	chr5:103227200-103230400	Weak transcription	Brain Anterior Caudate	brain
5	chr5:103227400-103230000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr5:103227400-103230400	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr5:103228200-103228800	Enhancers	Brain Hippocampus Middle	brain
8	chr5:103228600-103229800	Weak transcription	Brain Substantia Nigra	brain
9	chr5:103228800-103230200	Weak transcription	Brain Hippocampus Middle	brain
10	chr5:103229800-103230800	Enhancers	Brain Substantia Nigra	brain
11	chr5:103230000-103230800	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr5:103230000-103231000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr5:103230200-103230600	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr5:103230200-103230600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr5:103230200-103230800	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr5:103230200-103230800	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr5:103230200-103230800	Enhancers	Brain Hippocampus Middle	brain
18	chr5:103230400-103230800	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr5:103230400-103230800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr5:103230400-103230800	Enhancers	Brain Angular Gyrus	brain
21	chr5:103230400-103230800	Enhancers	Brain Anterior Caudate	brain
22	chr5:103230400-103230800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
23	chr5:103230400-103231000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr5:103230400-103231000	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr5:103230400-103231000	Enhancers	Brain Inferior Temporal Lobe	brain
26	chr5:103230800-103237400	Weak transcription	Brain Hippocampus Middle	brain
27	chr5:103231000-103231600	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr5:103231600-103231800	Enhancers	Brain Inferior Temporal Lobe	brain
29	chr5:103236800-103237600	Enhancers	Placenta Amnion	Placenta Amnion
30	chr5:103237000-103239000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr5:103237200-103237800	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr5:103237400-103238000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr5:103237400-103238000	Enhancers	Brain Hippocampus Middle	brain
34	chr5:103237400-103238800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr5:103240400-103244000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr5:103242600-103242800	Enhancers	Fetal Kidney	kidney
37	chr5:103242800-103243000	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chr5:103242800-103243000	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr5:103243000-103243200	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr5:103243000-103244000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr5:103243200-103244000	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr5:103243200-103244200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr5:103244000-103244400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr5:103244000-103245000	Enhancers	iPS-15b Cell Line	embryonic stem cell
45	chr5:103244200-103244800	Enhancers	ES-I3 Cell Line	embryonic stem cell
46	chr5:103244400-103245000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr5:103244400-103245000	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr5:103244400-103245000	Enhancers	Fetal Kidney	kidney
49	chr5:103244400-103245000	Enhancers	Fetal Muscle Leg	muscle
50	chr5:103244800-103252200	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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