Variant report

Variant	nsv972587
Chromosome Location	chr8:61123327-61133192
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	chr8:61118757..61121609-chr8:61123020..61125468,3	K562	blood:
2	chr8:61132351..61134259-chr8:61138507..61140079,2	MCF-7	breast:
3	chr8:61123830..61126223-chr8:61127249..61129412,2	K562	blood:
4	chr8:61113855..61116459-chr8:61121653..61124541,2	K562	blood:
5	chr8:61123830..61126223-chr8:61127249..61129412,2	K562	blood:
6	chr8:61130148..61133120-chr8:61137634..61140614,3	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RAB2A-4	chr8:61124639-61124732	l_3607_chr8:61121905-61125116_testes
2	lnc-RAB2A-4	chr8:61125092-61125116	l_3607_chr8:61121905-61125116_testes

No data

Extended variants
information (count: 357 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:357 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574759316	chr8:61123417-61123418	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs143737299	chr8:61123418-61123419	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs567666598	chr8:61123421-61123422	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs369398234	chr8:61123436-61123437	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs187347506	chr8:61123520-61123521	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs534266516	chr8:61123536-61123537	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs148172631	chr8:61123539-61123540	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs13253763	chr8:61123581-61123582	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs541285901	chr8:61123605-61123606	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs545281459	chr8:61123623-61123624	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs13253838	chr8:61123647-61123648	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs572278288	chr8:61123664-61123665	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs74968221	chr8:61123687-61123688	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs192120008	chr8:61123717-61123718	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs528971167	chr8:61123737-61123738	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs574347061	chr8:61123745-61123746	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs562443287	chr8:61123770-61123771	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs182738602	chr8:61123791-61123792	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs551664897	chr8:61123799-61123800	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs566793330	chr8:61123801-61123802	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs369093224	chr8:61123831-61123832	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs527444462	chr8:61123868-61123869	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs142604259	chr8:61123871-61123872	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs567503296	chr8:61123883-61123884	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs537930843	chr8:61123975-61123976	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs550283255	chr8:61123979-61123980	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs77262244	chr8:61124044-61124045	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs77577433	chr8:61124046-61124047	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs571273529	chr8:61124052-61124053	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs146899477	chr8:61124060-61124061	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs546431818	chr8:61124067-61124068	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs370029562	chr8:61124121-61124122	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs187708773	chr8:61124169-61124170	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs563037574	chr8:61124201-61124202	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs189767484	chr8:61124225-61124226	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs7007072	chr8:61124264-61124265	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs554861481	chr8:61124299-61124300	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs141654191	chr8:61124373-61124374	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs528384334	chr8:61124375-61124376	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs541671587	chr8:61124409-61124410	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs576601622	chr8:61124464-61124465	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs139065642	chr8:61124471-61124472	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs7461548	chr8:61124529-61124530	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs562583582	chr8:61124557-61124558	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs577682770	chr8:61124571-61124572	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs142990211	chr8:61124589-61124590	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs376383592	chr8:61124603-61124604	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs7011817	chr8:61124668-61124669	Weak transcription Strong transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs375114635	chr8:61124695-61124696	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
50	rs182426220	chr8:61124722-61124723	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

Disease	PMID	Source
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Disorders of sex development	21048976	CNVD
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Cancer	20164919	CNVD
primary effusion lymphomas	17116491	CNVD
Esophageal cancer	20955586	CNVD
Multiple myeloma	16461302	CNVD
abnormal development	18461090	CNVD
Cancer	20164920	CNVD
Oral cancer	21386901	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Colorectal cancer	16272173	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Colorectal cancer	21645411	CNVD
Melanoma	22183965	CNVD
Cancer	21949371	CNVD
Non-small cell lung cancer	21829676	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute myeloid leukemia	21358987	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
Schizophrenia	23813976	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:61100200-61129800	Weak transcription	Primary hematopoietic stem cells	blood
2	chr8:61105800-61149400	Weak transcription	Gastric	stomach
3	chr8:61106400-61138800	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr8:61107200-61132000	Weak transcription	Left Ventricle	heart
5	chr8:61107200-61138200	Weak transcription	Placenta	Placenta
6	chr8:61117800-61167400	Weak transcription	Fetal Stomach	stomach
7	chr8:61119400-61139400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr8:61119600-61138400	Weak transcription	Lung	lung
9	chr8:61120600-61158200	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr8:61121400-61132200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr8:61121400-61132600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr8:61121600-61124600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr8:61121600-61126400	Weak transcription	K562	blood
14	chr8:61122200-61124800	Enhancers	Fetal Intestine Large	intestine
15	chr8:61122400-61124200	Enhancers	Fetal Intestine Small	intestine
16	chr8:61124000-61130400	Weak transcription	A549	lung
17	chr8:61124200-61138000	Weak transcription	Fetal Intestine Small	intestine
18	chr8:61124600-61125600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
19	chr8:61124800-61130600	Weak transcription	Fetal Intestine Large	intestine
20	chr8:61125600-61126400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr8:61126400-61127600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
22	chr8:61126400-61128800	Strong transcription	K562	blood
23	chr8:61126400-61135000	Weak transcription	Pancreas	Pancrea
24	chr8:61127600-61128600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr8:61127600-61146000	Weak transcription	Brain Anterior Caudate	brain
26	chr8:61128600-61136200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
27	chr8:61128800-61129600	Weak transcription	K562	blood
28	chr8:61129000-61149400	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr8:61129600-61139400	Strong transcription	K562	blood
30	chr8:61129800-61131200	Strong transcription	Primary hematopoietic stem cells	blood
31	chr8:61130400-61131200	Strong transcription	A549	lung
32	chr8:61130600-61135400	Strong transcription	Fetal Intestine Large	intestine
33	chr8:61131200-61135800	Weak transcription	A549	lung
34	chr8:61131200-61138800	Weak transcription	Primary hematopoietic stem cells	blood
35	chr8:61131400-61136000	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr8:61132000-61133600	Strong transcription	Left Ventricle	heart
37	chr8:61132200-61135400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr8:61132600-61133600	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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