Variant report

Variant	nsv1019514
Chromosome Location	chr8:111047087-111099360
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:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:111068397..111070678-chr8:111072646..111075058,2	K562	blood:
2	chr8:111058393..111060790-chr8:111063064..111064673,2	MCF-7	breast:
3	chr8:111058393..111060790-chr8:111063064..111064673,2	MCF-7	breast:
4	chr8:111072267..111075040-chr8:111076442..111078817,2	MCF-7	breast:
5	chr8:111068397..111070678-chr8:111072646..111075058,2	K562	blood:
6	chr6:68238430..68239410-chr8:111072142..111072850,2	MCF-7	breast:
7	chr8:111059529..111060611-chr8:111844370..111845275,3	MCF-7	breast:
8	chr8:111059282..111059974-chr8:111067105..111067645,2	MCF-7	breast:
9	chr8:111042333..111044972-chr8:111050429..111052805,2	K562	blood:
10	chr8:110747393..110748163-chr8:111072647..111073698,3	MCF-7	breast:
11	chr8:110747230..110748139-chr8:111059607..111060327,3	MCF-7	breast:
12	chr8:111095057..111097322-chr8:111109649..111112073,2	K562	blood:
13	chr8:111072267..111075040-chr8:111076442..111078817,2	MCF-7	breast:
14	chr8:111059282..111059974-chr8:111067105..111067645,2	MCF-7	breast:
15	chr8:111059646..111060573-chr8:111844351..111844977,3	MCF-7	breast:
16	chr8:110747390..110748104-chr8:111067106..111067995,2	MCF-7	breast:

No data

Extended variants
information (count: 401 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:401 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs561825244	chr8:111057035-111057036	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs34729592	chr8:111057049-111057050	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs538285755	chr8:111057105-111057106	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs191145803	chr8:111057148-111057149	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs138426326	chr8:111057183-111057184	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs530750386	chr8:111057259-111057260	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs543524915	chr8:111057268-111057269	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs539478070	chr8:111057286-111057287	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs553664364	chr8:111057323-111057324	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs186786971	chr8:111059817-111059818	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs568312397	chr8:111059877-111059878	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs534164877	chr8:111059909-111059910	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs554198909	chr8:111059910-111059911	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs10111047	chr8:111059931-111059932	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs546733861	chr8:111059965-111059966	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs539794031	chr8:111059991-111059992	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs556301046	chr8:111060009-111060010	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs73310317	chr8:111060018-111060019	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs544499520	chr8:111060061-111060062	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs554940859	chr8:111060074-111060075	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs574642389	chr8:111060093-111060094	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs35645948	chr8:111060133-111060134	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs565725185	chr8:111060134-111060135	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs540428647	chr8:111060140-111060141	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs397737819	chr8:111060145-111060146	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs201727163	chr8:111060146-111060147	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs28753767	chr8:111060193-111060194	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs375170938	chr8:111060226-111060227	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs192691404	chr8:111060261-111060262	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs184685969	chr8:111060268-111060269	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs113074588	chr8:111060303-111060304	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs531247148	chr8:111060373-111060374	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs189603324	chr8:111060395-111060396	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs34010548	chr8:111060427-111060428	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs13277229	chr8:111060459-111060460	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs193039966	chr8:111060495-111060496	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs547686932	chr8:111060521-111060522	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs148714289	chr8:111060551-111060552	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs539523667	chr8:111060555-111060556	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs12056929	chr8:111060572-111060573	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs570065805	chr8:111060617-111060618	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs535826413	chr8:111060622-111060623	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs372540406	chr8:111060662-111060663	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs554866152	chr8:111060667-111060668	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs574802705	chr8:111060688-111060689	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs575487256	chr8:111060722-111060723	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs540395847	chr8:111060733-111060734	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs200191952	chr8:111060740-111060741	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs201229347	chr8:111060741-111060742	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs77392943	chr8:111060751-111060752	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:99)

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
Non-syndromic sensorineural hearing loss	18451855	CNVD
Colorectal cancer	21645411	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:161 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:111057000-111057400	Enhancers	Psoas Muscle	Psoas
2	chr8:111057200-111057400	Enhancers	Aorta	Aorta
3	chr8:111059800-111060600	Enhancers	Fetal Lung	lung
4	chr8:111060200-111060400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr8:111060200-111060400	Enhancers	Adipose Nuclei	Adipose
6	chr8:111060200-111061600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr8:111060400-111061400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr8:111060600-111061000	Weak transcription	Fetal Lung	lung
9	chr8:111061000-111061200	Enhancers	Adipose Nuclei	Adipose
10	chr8:111061000-111061600	Enhancers	Fetal Lung	lung
11	chr8:111061400-111062200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr8:111061600-111062800	Weak transcription	Fetal Lung	lung
13	chr8:111062800-111063800	Enhancers	Fetal Lung	lung
14	chr8:111068600-111068800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr8:111068800-111069200	Enhancers	GM12878-XiMat	blood
16	chr8:111068800-111069400	Active TSS	Primary B cells from cord blood	blood
17	chr8:111068800-111069400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr8:111068800-111069600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr8:111069000-111069600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr8:111069400-111069600	Enhancers	Rectal Mucosa Donor 29	rectum
21	chr8:111069400-111069800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr8:111069600-111072200	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr8:111069600-111072600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr8:111072000-111072400	Enhancers	Duodenum Mucosa	Duodenum
25	chr8:111072000-111072400	Enhancers	Fetal Intestine Large	intestine
26	chr8:111072000-111072400	Enhancers	Fetal Intestine Small	intestine
27	chr8:111072000-111072600	Enhancers	Rectal Mucosa Donor 31	rectum
28	chr8:111072200-111072400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr8:111072200-111072400	Enhancers	Colonic Mucosa	Colon
30	chr8:111072200-111072600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
31	chr8:111072200-111072600	Enhancers	Skeletal Muscle Female	skeletal muscle
32	chr8:111072200-111072800	Enhancers	H1 Cell Line	embryonic stem cell
33	chr8:111072200-111072800	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr8:111072200-111072800	Enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr8:111072200-111072800	Enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr8:111072200-111072800	Enhancers	Right Atrium	heart
37	chr8:111072200-111072800	Enhancers	Sigmoid Colon	Sigmoid Colon
38	chr8:111072200-111073000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr8:111072200-111073000	Enhancers	Fetal Muscle Leg	muscle
40	chr8:111072200-111073400	Active TSS	iPS-15b Cell Line	embryonic stem cell
41	chr8:111072200-111073400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
42	chr8:111072200-111073600	Enhancers	Liver	Liver
43	chr8:111072200-111073600	Enhancers	Fetal Muscle Trunk	muscle
44	chr8:111072400-111072600	Enhancers	Adipose Nuclei	Adipose
45	chr8:111072400-111072600	Flanking Active TSS	Colonic Mucosa	Colon
46	chr8:111072400-111072600	Flanking Active TSS	Fetal Intestine Large	intestine
47	chr8:111072400-111072600	Flanking Active TSS	Fetal Intestine Small	intestine
48	chr8:111072400-111072600	Flanking Active TSS	Stomach Smooth Muscle	stomach
49	chr8:111072400-111072800	Enhancers	ES-I3 Cell Line	embryonic stem cell
50	chr8:111072400-111072800	Enhancers	HUES6 Cell Line	embryonic stem cell

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