Variant report

Variant	nsv1034144
Chromosome Location	chr8:85230634-85268654
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:85244937..85247622-chr8:85249588..85252468,2	MCF-7	breast:
2	chr8:85244937..85247622-chr8:85249588..85252468,2	MCF-7	breast:
3	chr8:85254893..85257135-chr8:85258246..85262364,3	K562	blood:
4	chr8:85168225..85170591-chr8:85247775..85249276,2	K562	blood:
5	chr8:85229678..85232410-chr8:85340813..85342661,2	K562	blood:
6	chr8:85254893..85257135-chr8:85258246..85262364,3	K562	blood:

Extended variants
information (count: 914 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:914 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs185281223	chr8:85230643-85230644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs73306940	chr8:85230645-85230646	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs77682606	chr8:85230672-85230673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs548458615	chr8:85230761-85230762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs369713082	chr8:85230811-85230812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs568271976	chr8:85230850-85230851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs10093277	chr8:85230860-85230861	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs553683506	chr8:85230914-85230915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs190037941	chr8:85230919-85230920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs73306942	chr8:85230961-85230962	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs546946973	chr8:85231025-85231026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs375254156	chr8:85231031-85231032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs575204824	chr8:85231046-85231047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs544504133	chr8:85231051-85231052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs554799528	chr8:85231068-85231069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs183305099	chr8:85231117-85231118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs540867928	chr8:85231122-85231123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs560499018	chr8:85231137-85231138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs532268126	chr8:85231160-85231161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs566870819	chr8:85231167-85231168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs545553142	chr8:85231191-85231192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs188919643	chr8:85231244-85231245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs148349294	chr8:85231258-85231259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs386727349	chr8:85231260-85231261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs115629746	chr8:85231262-85231263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs35338496	chr8:85231332-85231333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs183325185	chr8:85231347-85231348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs188686277	chr8:85231348-85231349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs570704021	chr8:85231462-85231463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs191630153	chr8:85231482-85231483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs547607356	chr8:85231489-85231490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs138500890	chr8:85231501-85231502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs539143042	chr8:85231544-85231545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs184146556	chr8:85231547-85231548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs568918741	chr8:85231626-85231627	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs73306943	chr8:85231670-85231671	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs554539585	chr8:85231727-85231728	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs575103793	chr8:85231800-85231801	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs188057478	chr8:85231811-85231812	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs142943505	chr8:85231832-85231833	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs577320974	chr8:85231866-85231867	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs535904598	chr8:85231929-85231930	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs73306944	chr8:85231939-85231940	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs35950870	chr8:85231963-85231964	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs372104396	chr8:85231965-85231966	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs146132264	chr8:85231972-85231973	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs79914691	chr8:85232001-85232002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs541876784	chr8:85232011-85232012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs28590718	chr8:85232019-85232020	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs527603127	chr8:85232054-85232055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

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

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:85230400-85231600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr8:85231600-85232000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr8:85232000-85233000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr8:85233000-85233600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr8:85233600-85235000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr8:85235000-85238200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr8:85236200-85237200	Enhancers	Fetal Intestine Large	intestine
8	chr8:85237200-85239000	Weak transcription	Fetal Intestine Large	intestine
9	chr8:85238200-85240400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr8:85239000-85241400	Enhancers	Fetal Intestine Large	intestine
11	chr8:85239200-85239400	Enhancers	Fetal Intestine Small	intestine
12	chr8:85239400-85240200	Weak transcription	Fetal Intestine Small	intestine
13	chr8:85239600-85239800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr8:85239600-85239800	Enhancers	Spleen	Spleen
15	chr8:85240200-85241400	Enhancers	Fetal Intestine Small	intestine
16	chr8:85240400-85241200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr8:85240400-85241200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr8:85241200-85242600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr8:85241200-85247200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr8:85241400-85242600	Weak transcription	Fetal Intestine Large	intestine
21	chr8:85241400-85242800	Weak transcription	Fetal Intestine Small	intestine
22	chr8:85242600-85245400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr8:85242600-85246000	Enhancers	Fetal Intestine Large	intestine
24	chr8:85242800-85244800	Enhancers	Fetal Intestine Small	intestine
25	chr8:85245400-85247400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr8:85247200-85247600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr8:85247200-85247600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr8:85247200-85247600	Enhancers	Right Atrium	heart
29	chr8:85247200-85248600	Enhancers	Fetal Heart	heart
30	chr8:85247400-85249600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr8:85247600-85249200	Enhancers	Fetal Brain Male	brain
32	chr8:85247800-85248600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr8:85248000-85248400	Enhancers	Stomach Smooth Muscle	stomach
34	chr8:85248000-85248600	Enhancers	Fetal Brain Female	brain
35	chr8:85263200-85263600	Enhancers	Brain Germinal Matrix	brain
36	chr8:85264000-85264200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
37	chr8:85264000-85264200	Enhancers	Brain Germinal Matrix	brain
38	chr8:85264600-85265800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr8:85264800-85265000	Enhancers	HUES6 Cell Line	embryonic stem cell
40	chr8:85265000-85265600	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr8:85265400-85267200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr8:85265600-85266000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr8:85265600-85266600	Enhancers	NH-A	brain
44	chr8:85265600-85266800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr8:85265600-85266800	Enhancers	HUES64 Cell Line	embryonic stem cell
46	chr8:85265600-85267400	Enhancers	iPS-15b Cell Line	embryonic stem cell
47	chr8:85265600-85267600	Enhancers	HUES48 Cell Line	embryonic stem cell
48	chr8:85265600-85267800	Enhancers	ES-I3 Cell Line	embryonic stem cell
49	chr8:85265600-85268200	Enhancers	HUES6 Cell Line	embryonic stem cell
50	chr8:85265800-85266800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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