Variant report

Variant	nsv891411
Chromosome Location	chr8:118891896-118942698
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:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:118928857..118930921-chr8:118936919..118939329,2	MCF-7	breast:
2	chr8:118901302..118903490-chr8:119123908..119125633,2	MCF-7	breast:
3	chr8:118930438..118932126-chr8:119123387..119125000,2	MCF-7	breast:
4	chr8:118895392..118899100-chr8:119122968..119125162,4	MCF-7	breast:
5	chr8:118894308..118897199-chr8:119123485..119125285,2	MCF-7	breast:
6	chr8:118890541..118892939-chr8:119125383..119127926,2	MCF-7	breast:
7	chr8:118896198..118897114-chr8:119037614..119038165,2	MCF-7	breast:
8	8:118911988-118922970..8:119208477-119211356	GM12878	blood:
9	chr8:118906865..118908986-chr8:118910823..118912929,2	MCF-7	breast:
10	chr8:118929621..118931886-chr8:118940149..118942806,2	MCF-7	breast:
11	chr8:118931174..118933770-chr8:118938914..118940644,2	K562	blood:
12	chr8:118874257..118874880-chr8:118929262..118930077,2	MCF-7	breast:
13	chr8:118929621..118931886-chr8:118940149..118942806,2	MCF-7	breast:
14	chr8:118896207..118897097-chr8:119132804..119133487,2	MCF-7	breast:
15	chr8:118928857..118930921-chr8:118936919..118939329,2	MCF-7	breast:
16	chr8:118906865..118908986-chr8:118910823..118912929,2	MCF-7	breast:
17	chr8:118897210..118898934-chr8:119121979..119124377,2	MCF-7	breast:
18	chr8:118924992..118927722-chr8:118950419..118952468,2	MCF-7	breast:
19	chr8:118931174..118933770-chr8:118938914..118940644,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000182197	chromatin interactions

Extended variants
information (count: 2003 )
Associated
traits (count: 145 )

Variant overlapped rSNPs/rCNVs (count:2003 , 50 per page) page: 1 2 3 4 5 6 7 ... 41

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11785986	chr8:118891896-118891897	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs113490163	chr8:118891915-118891916	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs550011691	chr8:118891935-118891936	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs569363490	chr8:118891956-118891957	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs17503962	chr8:118891973-118891974	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs17475127	chr8:118892005-118892006	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs17475134	chr8:118892009-118892010	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs566373031	chr8:118892019-118892020	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs536985434	chr8:118892027-118892028	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs374524428	chr8:118892038-118892039	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs4129093	chr8:118892045-118892046	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs138632153	chr8:118892073-118892074	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs537921878	chr8:118892095-118892096	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs185390686	chr8:118892110-118892111	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs190639080	chr8:118892123-118892124	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs112754386	chr8:118892285-118892286	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs576567173	chr8:118892290-118892291	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs142759019	chr8:118892302-118892303	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs4129092	chr8:118892344-118892345	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs115341595	chr8:118892373-118892374	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs574385307	chr8:118892375-118892376	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs541768670	chr8:118892398-118892399	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs561288648	chr8:118892514-118892515	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs150740171	chr8:118892522-118892523	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs182317855	chr8:118892525-118892526	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs17450752	chr8:118892629-118892630	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs534949295	chr8:118892643-118892644	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs184428988	chr8:118892666-118892667	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs371076486	chr8:118892750-118892751	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs554748065	chr8:118892769-118892770	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs535182102	chr8:118892807-118892808	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs17450758	chr8:118892823-118892824	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs543921415	chr8:118892833-118892834	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs58814828	chr8:118892834-118892835	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs397966661	chr8:118892847-118892848	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs199822664	chr8:118892852-118892853	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs17450765	chr8:118892954-118892955	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs548620664	chr8:118892955-118892956	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs569598196	chr8:118892975-118892976	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs551379027	chr8:118892986-118892987	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs552180453	chr8:118893056-118893057	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs188415370	chr8:118893060-118893061	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs560788016	chr8:118893095-118893096	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs6999192	chr8:118893104-118893105	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs71569750	chr8:118893122-118893123	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs552710259	chr8:118893160-118893161	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs144185466	chr8:118893161-118893162	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs577246503	chr8:118893171-118893172	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs112969745	chr8:118893172-118893173	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs367724144	chr8:118893173-118893174	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:145)

Disease	PMID	Source
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
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	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
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
Glioblastoma multiforme	21080181	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
lymphocytic leukemia	21291569	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital diaphragmatic hernia	21085971	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
Papillary thyroid cancer	17515504	CNVD
Basal cell lymphoma	17053054	CNVD
Cancer	20164920	CNVD
Breast cancer	20932292	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	17268525	CNVD
Multiple myeloma	16461302	CNVD
Non-small cell lung cancer	19204574	CNVD
Gastric cancer	22539939	CNVD
Breast cancer	22056952	CNVD
Langer-Giedion syndrome	16773131	CNVD
Lung cancer	16740712	CNVD
Mental retardation	16773131	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Langer-Giedion syndrome	22470819	CNVD
Cornelia de Lange syndrome	24599119	CNVD
Gastric cancer	21528007	CNVD
Breast cancer	22532251	CNVD
Cervical cancer	21062161	CNVD
Cancer	21129771	CNVD
benign familial neonatal convulsions	18472482	CNVD
Breast cancer	16417655	CNVD
Astrocytoma	17387387	CNVD
Cancer	21183584	CNVD
Follicular lymphoma	20505157	CNVD
T-cell lymphomas	19863542	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	20607354	CNVD
Breast cancer	20814816	CNVD
Colorectal cancer	22486879	CNVD
Breast cancer	17908964	CNVD
Colorectal cancer	20031965	CNVD
Hepatocellular carcinoma	16750200	CNVD
Ovarian cancer	17908964	CNVD
Ovarian cancer	20031965	CNVD
Prostate cancer	20031965	CNVD
Non-small cell lung cancer	17643093	CNVD
Prostate cancer	19242612	CNVD
Colorectal cancer	16774939	CNVD
Oral squamous cell carcinoma	21853135	CNVD
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	18628472	CNVD
Malignant melanoma	17260012	CNVD
Ovarian cancer	17440070	CNVD
Cancer	17440070	CNVD
Prostate cancer	22341455	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Colorectal cancer	21645411	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
T-cell lymphomas	22341440	CNVD
Pancreatic cancer	17952125	CNVD
Glioma	20126413	CNVD

Chromatin state (count:1573 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:118873600-118896200	Weak transcription	Fetal Stomach	stomach
2	chr8:118874800-118895800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr8:118875400-118893600	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr8:118876200-118894800	Weak transcription	Fetal Lung	lung
5	chr8:118876200-118904400	Weak transcription	Right Ventricle	heart
6	chr8:118876400-118894400	Weak transcription	Fetal Intestine Small	intestine
7	chr8:118877800-118896200	Weak transcription	HepG2	liver
8	chr8:118881200-118907600	Weak transcription	Duodenum Mucosa	Duodenum
9	chr8:118881400-118893800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr8:118881400-118904600	Weak transcription	Lung	lung
11	chr8:118881400-118917400	Weak transcription	Esophagus	oesophagus
12	chr8:118881600-118892400	Weak transcription	HMEC	breast
13	chr8:118881800-118895400	Weak transcription	Liver	Liver
14	chr8:118881800-118895800	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr8:118881800-118896400	Weak transcription	Fetal Heart	heart
16	chr8:118884000-118893200	Weak transcription	NHEK	skin
17	chr8:118884200-118893200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr8:118884400-118893200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr8:118884400-118895400	Weak transcription	Fetal Intestine Large	intestine
20	chr8:118885600-118895000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr8:118888000-118893400	Enhancers	NHDF-Ad	bronchial
22	chr8:118888200-118894400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr8:118888200-118908600	Weak transcription	Rectal Smooth Muscle	rectum
24	chr8:118888600-118892000	Weak transcription	Colon Smooth Muscle	Colon
25	chr8:118888600-118892000	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr8:118888600-118893600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr8:118889000-118893600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr8:118889200-118893400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr8:118889400-118893800	Weak transcription	Adipose Nuclei	Adipose
30	chr8:118889600-118893600	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr8:118889800-118893200	Weak transcription	HSMM	muscle
32	chr8:118889800-118895800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr8:118889800-118904200	Weak transcription	Left Ventricle	heart
34	chr8:118890000-118892000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr8:118890000-118893200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr8:118890000-118893200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr8:118890000-118893400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr8:118890000-118893600	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr8:118890000-118895400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr8:118890000-118914600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr8:118890200-118893200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr8:118890200-118893400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr8:118890200-118895400	Weak transcription	A549	lung
44	chr8:118890400-118893600	Weak transcription	Fetal Muscle Leg	muscle
45	chr8:118891000-118892600	Enhancers	Small Intestine	intestine
46	chr8:118891200-118892400	Weak transcription	NH-A	brain
47	chr8:118891200-118893600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr8:118891200-118894000	Weak transcription	Pancreas	Pancrea
49	chr8:118891200-118910400	Weak transcription	Psoas Muscle	Psoas
50	chr8:118891400-118892400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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