Variant report

Variant	nsv818573
Chromosome Location	chr8:1110914-1117739
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:1100395..1102279-chr8:1115435..1117687,2	K562	blood:

Extended variants
information (count: 470 )
Associated
traits (count: 114 )

Variant overlapped rSNPs/rCNVs (count:470 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10093077	chr8:1110914-1110915	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs112801021	chr8:1110917-1110918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs115298698	chr8:1110924-1110925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs62487487	chr8:1110952-1110953	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs368103079	chr8:1110972-1110973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs563824365	chr8:1111024-1111025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs113761378	chr8:1111031-1111032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs552608438	chr8:1111047-1111048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs566028400	chr8:1111070-1111071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs535048350	chr8:1111072-1111073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs548287262	chr8:1111086-1111087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs567263333	chr8:1111098-1111099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs143093707	chr8:1111101-1111102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs536101959	chr8:1111105-1111106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs555944471	chr8:1111137-1111138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs575796767	chr8:1111138-1111139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs1451885	chr8:1111140-1111141	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs7008181	chr8:1111158-1111159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs182027305	chr8:1111186-1111187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs545986675	chr8:1111200-1111201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs139864690	chr8:1111228-1111229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs564566311	chr8:1111275-1111276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs544099095	chr8:1111291-1111292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs371083152	chr8:1111305-1111306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs532789329	chr8:1111359-1111360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs935822	chr8:1111472-1111473	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs185040897	chr8:1111473-1111474	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs79584532	chr8:1111474-1111475	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs548576206	chr8:1111478-1111479	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs368685858	chr8:1111495-1111496	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs143939020	chr8:1111498-1111499	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs189561160	chr8:1111502-1111503	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs180876366	chr8:1111512-1111513	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs147273997	chr8:1111570-1111571	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs186405844	chr8:1111585-1111586	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs148733419	chr8:1111586-1111587	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs534373136	chr8:1111590-1111591	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs13260252	chr8:1111591-1111592	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs191249126	chr8:1111610-1111611	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs62487488	chr8:1111612-1111613	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs62487489	chr8:1111619-1111620	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs183609474	chr8:1111639-1111640	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs373159532	chr8:1111641-1111642	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs557715950	chr8:1111664-1111665	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs577609344	chr8:1111714-1111715	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs62487490	chr8:1111736-1111737	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs935823	chr8:1111737-1111738	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs187619750	chr8:1111763-1111764	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs541932278	chr8:1111774-1111775	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs112844421	chr8:1111783-1111784	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:114)

Disease	PMID	Source
Ovarian cancer	21720365	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Congenital diaphragmatic hernia	21341218	CNVD
Cancer	18840272	CNVD
Pilocytic astrocytoma	18622384	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	16573809	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
Cancer	20164919	CNVD
Breast cancer	21785460	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	20729466	CNVD
Ductal carcinoma	22052326	CNVD
small cell lung cancer	20016488	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
Breast cancer	21364760	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Schizophrenia	23813976	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Autism	20531469	CNVD
Breast cancer	20932292	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Congenital diaphragmatic hernia	21064195	CNVD

Chromatin state (count:148 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:1104400-1113000	Weak transcription	Fetal Brain Male	brain
2	chr8:1109800-1113000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr8:1110200-1111200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr8:1110400-1111400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr8:1110600-1112800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr8:1111400-1112200	Bivalent Enhancer	Fetal Stomach	stomach
7	chr8:1111400-1115600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr8:1112000-1112200	Flanking Active TSS	Stomach Smooth Muscle	stomach
9	chr8:1112200-1112400	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr8:1112200-1112400	Active TSS	Stomach Smooth Muscle	stomach
11	chr8:1112400-1113000	Enhancers	Stomach Smooth Muscle	stomach
12	chr8:1112800-1113000	Enhancers	H1 Cell Line	embryonic stem cell
13	chr8:1112800-1113000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
14	chr8:1112800-1114600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr8:1113000-1113200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr8:1113000-1113200	Flanking Active TSS	Adipose Nuclei	Adipose
17	chr8:1113000-1113200	Bivalent Enhancer	Fetal Muscle Leg	muscle
18	chr8:1113000-1113400	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
19	chr8:1113000-1113400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
20	chr8:1113000-1113400	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
21	chr8:1113000-1113600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
22	chr8:1113000-1113800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr8:1113000-1114000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
24	chr8:1113000-1114000	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr8:1113000-1114000	ZNF genes & repeats	Colonic Mucosa	Colon
26	chr8:1113000-1114000	Active TSS	Skeletal Muscle Female	skeletal muscle
27	chr8:1113000-1114200	Active TSS	Osteobl	bone
28	chr8:1113000-1114400	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
29	chr8:1113000-1114400	Flanking Active TSS	Stomach Smooth Muscle	stomach
30	chr8:1113000-1116200	Enhancers	Fetal Brain Male	brain
31	chr8:1113200-1113400	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
32	chr8:1113200-1113400	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
33	chr8:1113200-1113400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
34	chr8:1113200-1113400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr8:1113200-1113400	Active TSS	Adipose Nuclei	Adipose
36	chr8:1113200-1113400	Flanking Active TSS	Right Ventricle	heart
37	chr8:1113200-1113600	Enhancers	Brain Germinal Matrix	brain
38	chr8:1113200-1113800	Enhancers	Primary hematopoietic stem cells	blood
39	chr8:1113200-1113800	Bivalent/Poised TSS	Fetal Lung	lung
40	chr8:1113200-1114000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
41	chr8:1113200-1114000	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
42	chr8:1113200-1114000	Active TSS	Left Ventricle	heart
43	chr8:1113200-1114000	Active TSS	Thymus	Thymus
44	chr8:1113200-1114200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
45	chr8:1113200-1114200	Active TSS	Psoas Muscle	Psoas
46	chr8:1113200-1114200	Active TSS	Right Atrium	heart
47	chr8:1113400-1113600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
48	chr8:1113400-1113600	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
49	chr8:1113400-1113600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr8:1113400-1113600	Bivalent/Poised TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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