Variant report

Variant	nsv889924
Chromosome Location	chr8:3828138-4180844
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:103323089..103325462-chr8:4135925..4138695,2	MCF-7	breast:
2	chr8:4091951..4092554-chr8:4399113..4400010,2	MCF-7	breast:
3	chr8:4091582..4092324-chr8:4399511..4400398,2	MCF-7	breast:
4	chr8:4010079..4014350-chr8:4015920..4019883,4	K562	blood:
5	chr8:3823058..3824890-chr8:3826094..3828395,2	K562	blood:
6	chr8:3862970..3864915-chr8:3867415..3869991,2	K562	blood:
7	chr8:4138578..4139163-chr8:4399169..4399679,2	MCF-7	breast:
8	chr8:4092133..4092721-chr8:4257157..4257997,2	MCF-7	breast:
9	chr8:4010079..4014350-chr8:4015920..4018884,3	K562	blood:
10	chr8:4010079..4014350-chr8:4015920..4019883,4	K562	blood:
11	chr8:3675597..3677848-chr8:3833927..3836270,2	K562	blood:
12	chr8:3862970..3864915-chr8:3867415..3869991,2	K562	blood:
13	chr8:4010079..4014350-chr8:4015920..4018884,3	K562	blood:

No data

Extended variants
information (count: 19607 )
Associated
traits (count: 134 )

Variant overlapped rSNPs/rCNVs (count:19607 , 50 per page) page: 1 2 3 4 5 6 7 ... 393

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1529316	chr8:3828138-3828139	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance disease
2	rs553585908	chr8:3828145-3828146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs1529317	chr8:3828155-3828156	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs560755194	chr8:3828162-3828163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs572626477	chr8:3828165-3828166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs188250247	chr8:3828185-3828186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs564430191	chr8:3828188-3828189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs78351772	chr8:3828196-3828197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs550244654	chr8:3828204-3828205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs561993588	chr8:3828210-3828211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs562018315	chr8:3828243-3828244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs373066899	chr8:3828251-3828252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs376006884	chr8:3828258-3828259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs548046808	chr8:3828264-3828265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs531912222	chr8:3828268-3828269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs529831072	chr8:3828273-3828274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs533511185	chr8:3828276-3828277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs145997364	chr8:3828282-3828283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs549758425	chr8:3828284-3828285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs552045299	chr8:3828307-3828308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs138880059	chr8:3828309-3828310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs192369039	chr8:3828319-3828320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs370248340	chr8:3828320-3828321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs112328837	chr8:3828337-3828338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs2627452	chr8:3828344-3828345	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs556160970	chr8:3828352-3828353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs148905098	chr8:3828359-3828360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs532534697	chr8:3828361-3828362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs554023626	chr8:3828365-3828366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs57339387	chr8:3828371-3828372	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs566030004	chr8:3828383-3828384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs147980523	chr8:3828407-3828408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs141644652	chr8:3828420-3828421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs548889126	chr8:3828430-3828431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs184811685	chr8:3828441-3828442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs370699023	chr8:3828455-3828456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs145959245	chr8:3828456-3828457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs112192317	chr8:3828463-3828464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs559631562	chr8:3828464-3828465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs527482102	chr8:3828481-3828482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs551982359	chr8:3828482-3828483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs188841334	chr8:3828488-3828489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs181893367	chr8:3828492-3828493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs142908162	chr8:3828493-3828494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs146126542	chr8:3828496-3828497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs139926283	chr8:3828503-3828504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs111668744	chr8:3828508-3828509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs144856082	chr8:3828518-3828519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs186487017	chr8:3828520-3828521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs375635019	chr8:3828522-3828523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:134)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	16573809	CNVD
Myelofibrosis	22110671	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
abnormal development	18461090	CNVD
Crohn''s disease	19220326	CNVD
Psoriasis	19220326	CNVD
Prostate cancer	21965145	CNVD
Prostate cancer	18515986	CNVD
Chronic obstructive pulmonary disease	20378733	CNVD
Autism	18414403	CNVD
Cancer	21183584	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Breast cancer	17603634	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Ovarian cancer	20844748	CNVD
Cervical cancer	17311676	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Schizophrenia	20877625	CNVD
Disorders of sex development	21048976	CNVD
Colorectal cancer	16272173	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Breast cancer	17001317	CNVD
Thyroid cancer	19087340	CNVD
Multiple myeloma	16616336	CNVD
Hepatocellular carcinoma	22174799	CNVD
Heart disease	21282601	CNVD
T-cell lymphomas	19863542	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	21297112	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Breast cancer	17393978	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Breast cancer	20837533	CNVD
Squamous cell cancer	21044232	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	22429812	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21264507	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	21088497	CNVD
Breast cancer	20940404	CNVD
Colorectal cancer	19359472	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Gastric cancer	17167181	CNVD
Prostate cancer	16705090	CNVD
8p-syndrome	17576883	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Prostate cancer	17245344	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Cancer	16751803	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	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
Acute lymphoblastic leukemia	21248843	CNVD
Breast cancer	21785460	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute myeloid leukemia	20729466	CNVD
Ductal carcinoma	22052326	CNVD
Breast cancer	21509527	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Epilepsy	22083797	CNVD
Acute myeloid leukemia	21251322	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Congenital diaphragmatic hernia	21064195	CNVD
Breast cancer	21364760	CNVD
Cancer	20164920	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Non-small cell lung cancer	21829676	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Prostate cancer	17217626	CNVD
Developmental delay	19128483	CNVD
Neuroticism	17667963	CNVD
Leukoplakia	24403051	CNVD
Intellectual disability	22045946	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16608533	CNVD
Seminomas	18059402	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Colorectal cancer	16774939	CNVD
Colorectal cancer	21645411	CNVD
Colorectal cancer	22014273	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Chronic myeloid leukemia	21384125	CNVD
Tetralogy of Fallot	22912587	CNVD
Breast cancer	22522925	CNVD
Schizophrenia	23813976	CNVD
Osteosarcoma	21215367	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Ependymoma	20639864	CNVD
Schizophrenia	21346763	CNVD
early-passage human iPS cells	21368824	CNVD
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD

Chromatin state (count:588 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:3822800-3830000	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr8:3824600-3829400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr8:3827800-3829200	Weak transcription	HepG2	liver
4	chr8:3829200-3829600	Enhancers	HepG2	liver
5	chr8:3829400-3831400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr8:3829600-3833800	Weak transcription	HepG2	liver
7	chr8:3830000-3831200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr8:3830000-3831400	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr8:3830200-3831000	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr8:3830200-3831600	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr8:3830400-3831600	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr8:3830800-3831400	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr8:3833800-3834600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr8:3833800-3839400	Enhancers	HepG2	liver
15	chr8:3834000-3834600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr8:3834600-3838600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr8:3836800-3838000	Enhancers	Fetal Intestine Large	intestine
18	chr8:3837800-3838000	Enhancers	Fetal Brain Male	brain
19	chr8:3838600-3838800	Enhancers	Fetal Brain Male	brain
20	chr8:3838600-3839000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr8:3839400-3843000	Weak transcription	HepG2	liver
22	chr8:3841400-3841800	Enhancers	Liver	Liver
23	chr8:3841800-3844400	Weak transcription	Liver	Liver
24	chr8:3843000-3844600	Enhancers	HepG2	liver
25	chr8:3844400-3844600	Enhancers	Liver	Liver
26	chr8:3844600-3844800	Enhancers	Duodenum Mucosa	Duodenum
27	chr8:3844600-3844800	Enhancers	Stomach Mucosa	stomach
28	chr8:3844600-3845200	Active TSS	Rectal Mucosa Donor 29	rectum
29	chr8:3844600-3845200	Flanking Active TSS	HepG2	liver
30	chr8:3844600-3845400	Enhancers	Gastric	stomach
31	chr8:3844600-3845600	Enhancers	Pancreas	Pancrea
32	chr8:3844600-3845800	Active TSS	Pancreatic Islets	Pancreatic Islet
33	chr8:3844600-3846000	Flanking Active TSS	Liver	Liver
34	chr8:3844600-3846200	Enhancers	Ovary	ovary
35	chr8:3844600-3846400	Enhancers	Rectal Mucosa Donor 31	rectum
36	chr8:3844800-3845000	Enhancers	Colonic Mucosa	Colon
37	chr8:3844800-3845000	Enhancers	Fetal Lung	lung
38	chr8:3844800-3845000	Flanking Active TSS	Stomach Mucosa	stomach
39	chr8:3844800-3845000	Enhancers	Stomach Smooth Muscle	stomach
40	chr8:3844800-3845200	Active TSS	Duodenum Mucosa	Duodenum
41	chr8:3844800-3845400	Enhancers	Rectal Smooth Muscle	rectum
42	chr8:3844800-3846000	Enhancers	Fetal Stomach	stomach
43	chr8:3844800-3846400	Enhancers	Fetal Intestine Small	intestine
44	chr8:3844800-3846600	Enhancers	Fetal Intestine Large	intestine
45	chr8:3844800-3847400	Enhancers	Brain Angular Gyrus	brain
46	chr8:3845000-3845200	Enhancers	Adipose Nuclei	Adipose
47	chr8:3845000-3845400	Active TSS	Colonic Mucosa	Colon
48	chr8:3845000-3845400	Flanking Active TSS	Fetal Lung	lung
49	chr8:3845000-3845600	Enhancers	Duodenum Smooth Muscle	Duodenum
50	chr8:3845000-3845600	Enhancers	Stomach Mucosa	stomach

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