Variant report

Variant	nsv611881
Chromosome Location	chr8:111138684-111181385
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:90014072..90014862-chr8:111171720..111172332,2	MCF-7	breast:
2	chr8:111170132..111173027-chr8:111181087..111182741,2	K562	blood:
3	chr8:111170132..111173027-chr8:111181087..111182741,2	K562	blood:
4	chr8:111148225..111150967-chr8:111837407..111839836,2	MCF-7	breast:
5	chr8:111147028..111149045-chr8:111188972..111191014,2	K562	blood:

Extended variants
information (count: 750 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:750 , 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	rs577785346	chr8:111144427-111144428	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs541700946	chr8:111144437-111144438	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs144709785	chr8:111144511-111144512	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs375672298	chr8:111144535-111144536	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs1868750	chr8:111144619-111144620	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs9643052	chr8:111144726-111144727	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs374475668	chr8:111144753-111144754	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs559785382	chr8:111144790-111144791	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs556016638	chr8:111144799-111144800	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs147889014	chr8:111144857-111144858	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs553450794	chr8:111144869-111144870	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs17477642	chr8:111144892-111144893	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs141529528	chr8:111144916-111144917	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs377300512	chr8:111145061-111145062	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs28473304	chr8:111145072-111145073	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs114238875	chr8:111145074-111145075	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs185620084	chr8:111145113-111145114	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs146945285	chr8:111145201-111145202	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs370674828	chr8:111145232-111145233	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs561615872	chr8:111145254-111145255	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs565816454	chr8:111145298-111145299	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs190381561	chr8:111145357-111145358	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs557785176	chr8:111145396-111145397	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs571072028	chr8:111145433-111145434	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs138629140	chr8:111145434-111145435	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs544494376	chr8:111145519-111145520	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs148877666	chr8:111145576-111145577	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs542198293	chr8:111145605-111145606	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs183018110	chr8:111145606-111145607	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs34843357	chr8:111145623-111145624	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs34866607	chr8:111145644-111145645	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs187681254	chr8:111145666-111145667	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs557792843	chr8:111145690-111145691	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs371998395	chr8:111145730-111145731	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs577992997	chr8:111145757-111145758	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs34668871	chr8:111145832-111145833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs545648814	chr8:111145857-111145858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs192176919	chr8:111145870-111145871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs375173869	chr8:111145894-111145895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs577667212	chr8:111145899-111145900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs531125058	chr8:111145900-111145901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs35672083	chr8:111145952-111145953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs199880419	chr8:111145954-111145955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs545374899	chr8:111145970-111145971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs561354271	chr8:111145996-111145997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs559754132	chr8:111146090-111146091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs183680212	chr8:111146118-111146119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs376359761	chr8:111146122-111146123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs546802337	chr8:111146163-111146164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs201111565	chr8:111146329-111146330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

Disease	PMID	Source
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
Gastric cancer	17908304	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	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
Testicular cancer	18059402	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
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
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	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
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
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
Colorectal cancer	16774939	CNVD
Autosomal-dominant progressive external ophthalmoplegia	19664747	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Sezary syndrome	18413736	CNVD
Breast cancer	21611746	CNVD
Developmental delay	21147756	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Non-small cell lung cancer	19010865	CNVD
small cell lung cancer	20016488	CNVD
Chronic myeloid leukemia	21384125	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:111144400-111145800	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr8:111145000-111145200	Enhancers	Fetal Brain Male	brain
3	chr8:111145000-111145400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr8:111145000-111145600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr8:111145000-111145600	Enhancers	Adipose Nuclei	Adipose
6	chr8:111145000-111145800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr8:111145000-111145800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr8:111145000-111145800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr8:111145200-111145400	Enhancers	Fetal Intestine Small	intestine
10	chr8:111145200-111145600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr8:111145200-111145600	Enhancers	Fetal Intestine Large	intestine
12	chr8:111145600-111147200	Weak transcription	Fetal Intestine Large	intestine
13	chr8:111147200-111148000	Enhancers	Fetal Intestine Small	intestine
14	chr8:111147200-111148600	Enhancers	Fetal Intestine Large	intestine
15	chr8:111148000-111150600	Weak transcription	Fetal Intestine Small	intestine
16	chr8:111150600-111150800	Enhancers	Fetal Intestine Small	intestine
17	chr8:111155200-111155600	Enhancers	Fetal Intestine Large	intestine
18	chr8:111155200-111155600	Enhancers	Sigmoid Colon	Sigmoid Colon
19	chr8:111166600-111167600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr8:111166600-111167600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr8:111166800-111167200	Enhancers	Sigmoid Colon	Sigmoid Colon
22	chr8:111166800-111168200	Enhancers	Fetal Intestine Large	intestine
23	chr8:111167000-111167200	Enhancers	Fetal Intestine Small	intestine
24	chr8:111167000-111168200	Enhancers	Rectal Mucosa Donor 31	rectum
25	chr8:111167200-111172800	Weak transcription	Fetal Intestine Small	intestine
26	chr8:111168200-111172600	Weak transcription	Fetal Intestine Large	intestine
27	chr8:111168200-111173200	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr8:111168400-111170600	Enhancers	HMEC	breast
29	chr8:111168600-111169200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr8:111168600-111169800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr8:111168800-111169800	Enhancers	Muscle Satellite Cultured Cells	--
32	chr8:111168800-111169800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr8:111169000-111169800	Enhancers	NHEK	skin
34	chr8:111169200-111173400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr8:111169800-111173200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr8:111169800-111175800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr8:111170600-111173200	Weak transcription	HMEC	breast
38	chr8:111172600-111173400	Enhancers	Fetal Intestine Large	intestine
39	chr8:111172800-111174200	Enhancers	Fetal Intestine Small	intestine
40	chr8:111173200-111174200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr8:111173200-111174200	Enhancers	Rectal Mucosa Donor 31	rectum
42	chr8:111173200-111175200	Enhancers	HMEC	breast
43	chr8:111173400-111174200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr8:111173400-111174200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr8:111173400-111174200	Enhancers	HepG2	liver
46	chr8:111173400-111180000	Weak transcription	Fetal Intestine Large	intestine
47	chr8:111173600-111174000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
48	chr8:111173600-111174200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr8:111173600-111174200	Enhancers	Liver	Liver
50	chr8:111173800-111174000	Enhancers	Rectal Mucosa Donor 29	rectum

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