Variant report

Variant	nsv525974
Chromosome Location	chr8:86407520-86415959
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:1)
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	chr8:86404163..86406491-chr8:86406532..86408170,2	MCF-7	breast:
2	chr8:86412018..86413672-chr8:86415619..86417828,2	MCF-7	breast:
3	chr8:86406517..86409106-chr8:86411209..86414222,3	MCF-7	breast:
4	chr8:86405383..86408114-chr8:86416707..86418781,2	MCF-7	breast:
5	chr8:86415312..86417964-chr8:86420831..86422849,2	MCF-7	breast:
6	chr8:86403779..86406429-chr8:86407390..86409709,2	MCF-7	breast:
7	chr8:86412018..86413672-chr8:86415619..86417828,2	MCF-7	breast:
8	chr8:86414152..86417222-chr8:87353264..87356667,3	MCF-7	breast:
9	chr8:86406517..86409106-chr8:86411209..86414222,3	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CA2-2	chr8:86413304-86413414	XLOC_006864

No data

Variant related genes	Relation type
ENSG00000254231	chromatin interactions
ENSG00000123124	chromatin interactions

Extended variants
information (count: 312 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:312 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9329911	chr8:86407520-86407521	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs141862035	chr8:86407529-86407530	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs532161363	chr8:86407538-86407539	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs563089443	chr8:86407551-86407552	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs552188884	chr8:86407595-86407596	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs150588701	chr8:86407709-86407710	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs138646320	chr8:86407734-86407735	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs377535540	chr8:86407759-86407760	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs531434406	chr8:86407832-86407833	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs541174312	chr8:86407835-86407836	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs567860946	chr8:86407873-86407874	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs142784354	chr8:86407917-86407918	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs530501162	chr8:86407955-86407956	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs553264376	chr8:86407988-86407989	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs566805325	chr8:86407989-86407990	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs538674048	chr8:86407999-86408000	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs558904918	chr8:86408033-86408034	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs551790676	chr8:86408046-86408047	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs369141111	chr8:86408051-86408052	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs544701211	chr8:86408151-86408152	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs570129883	chr8:86408160-86408161	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs146926690	chr8:86408186-86408187	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs182925921	chr8:86408197-86408198	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs16913908	chr8:86408210-86408211	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs188550261	chr8:86408269-86408270	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs560474242	chr8:86408272-86408273	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs532428086	chr8:86408281-86408282	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs147409038	chr8:86408307-86408308	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs562497562	chr8:86408325-86408326	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs554453670	chr8:86408386-86408387	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs531170917	chr8:86408387-86408388	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs139530577	chr8:86408392-86408393	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs574124430	chr8:86408471-86408472	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs568038053	chr8:86408522-86408523	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs530262927	chr8:86408529-86408530	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs546765884	chr8:86408560-86408561	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs566868742	chr8:86408572-86408573	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs538935734	chr8:86408581-86408582	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs191736264	chr8:86408585-86408586	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs568226359	chr8:86408660-86408661	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs75445319	chr8:86408662-86408663	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs555062347	chr8:86408673-86408674	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs183130558	chr8:86408689-86408690	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs534007161	chr8:86408719-86408720	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs554007646	chr8:86408720-86408721	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs371965760	chr8:86408747-86408748	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs35631191	chr8:86408776-86408777	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs117941720	chr8:86408783-86408784	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs188117826	chr8:86408809-86408810	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs546129870	chr8:86408810-86408811	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

Disease	PMID	Source
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
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	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
Esophageal cancer	20955586	CNVD
Multiple myeloma	16461302	CNVD
abnormal development	18461090	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
Cancer	16751803	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
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	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
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
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	21399628	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
small cell lung cancer	20016488	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	17393978	CNVD
Burkitt''s lymphoma	18698080	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Bladder cancer	19088036	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
Epilepsy	20502679	CNVD
Acute monocytic leukemia	16498392	CNVD
Autism	20841430	CNVD
Colorectal cancer	21645411	CNVD
Hepatocellular carcinoma	22267523	CNVD

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:86401800-86408200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr8:86401800-86413400	Weak transcription	Brain Cingulate Gyrus	brain
3	chr8:86401800-86414200	Weak transcription	Fetal Lung	lung
4	chr8:86402000-86414200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr8:86402600-86414600	Weak transcription	Brain Anterior Caudate	brain
6	chr8:86404000-86413200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr8:86404400-86407600	Weak transcription	Liver	Liver
8	chr8:86405200-86410800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr8:86406200-86413400	Weak transcription	Brain Hippocampus Middle	brain
10	chr8:86407000-86408200	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr8:86407000-86408400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
12	chr8:86407000-86408400	Enhancers	HMEC	breast
13	chr8:86407000-86408600	Enhancers	NHEK	skin
14	chr8:86407400-86408000	Enhancers	GM12878-XiMat	blood
15	chr8:86407400-86408400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr8:86407400-86408800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr8:86407800-86409000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr8:86408200-86408400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr8:86408200-86420000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr8:86408600-86412400	Weak transcription	NHEK	skin
21	chr8:86408800-86412400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr8:86410800-86411000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr8:86412400-86413000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr8:86412400-86416200	Enhancers	NHEK	skin
25	chr8:86412600-86415000	Enhancers	Primary T helper cells fromperipheralblood	blood
26	chr8:86412800-86415000	Enhancers	Primary T helper naive cells from peripheral blood	blood
27	chr8:86412800-86415000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr8:86412800-86415200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
29	chr8:86413000-86413600	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr8:86413000-86413800	Enhancers	Primary T cells fromperipheralblood	blood
31	chr8:86413000-86414200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr8:86413000-86414800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
33	chr8:86413000-86415600	Enhancers	Primary T cells from cord blood	blood
34	chr8:86413000-86415600	Enhancers	Primary T helper cells PMA-I stimulated	--
35	chr8:86413200-86413400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr8:86413200-86413400	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr8:86413200-86413600	Enhancers	Brain Angular Gyrus	brain
38	chr8:86413200-86413800	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr8:86413200-86414800	Enhancers	Primary T killer memory cells from peripheral blood	blood
40	chr8:86413200-86415800	Enhancers	Brain Substantia Nigra	brain
41	chr8:86413200-86416200	Enhancers	Primary monocytes fromperipheralblood	blood
42	chr8:86413400-86413600	Enhancers	Primary B cells from peripheral blood	blood
43	chr8:86413400-86413800	Enhancers	Brain Cingulate Gyrus	brain
44	chr8:86413400-86413800	Enhancers	Brain Inferior Temporal Lobe	brain
45	chr8:86413400-86415000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr8:86413400-86416600	Enhancers	Brain Hippocampus Middle	brain
47	chr8:86413600-86414600	Weak transcription	Brain Angular Gyrus	brain
48	chr8:86413600-86415400	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr8:86413800-86414800	Weak transcription	Primary B cells from peripheral blood	blood
50	chr8:86413800-86415200	Weak transcription	HUES64 Cell Line	embryonic stem cell

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