Variant report

Variant	nsv1019154
Chromosome Location	chr8:1129073-1175874
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	chr8:1123513..1126337-chr8:1142683..1145446,2	K562	blood:

Extended variants
information (count: 2642 )
Associated
traits (count: 115 )

Variant overlapped rSNPs/rCNVs (count:2642 , 50 per page) page: 1 2 3 4 5 6 7 ... 53

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17746852	chr8:1129073-1129074	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs565739363	chr8:1129099-1129100	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs180922068	chr8:1129109-1129110	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs376440919	chr8:1129110-1129111	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs186362046	chr8:1129118-1129119	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs75266367	chr8:1129119-1129120	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs374324438	chr8:1129144-1129145	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs556117176	chr8:1129148-1129149	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs576173887	chr8:1129149-1129150	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs73534868	chr8:1129179-1129180	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs1463246	chr8:1129192-1129193	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs370880961	chr8:1129196-1129197	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs140024040	chr8:1129211-1129212	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs561649762	chr8:1129220-1129221	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs76900229	chr8:1129232-1129233	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs550435147	chr8:1129233-1129234	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs191319434	chr8:1129242-1129243	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs575879925	chr8:1129259-1129260	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs544307995	chr8:1129269-1129270	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs552261860	chr8:1129271-1129272	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs565801135	chr8:1129275-1129276	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs7013806	chr8:1129281-1129282	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs183577574	chr8:1129282-1129283	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs188563938	chr8:1129288-1129289	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs563694598	chr8:1129291-1129292	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs575661508	chr8:1129299-1129300	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs546129485	chr8:1129303-1129304	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs77077947	chr8:1129317-1129318	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs73534873	chr8:1129332-1129333	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs370221838	chr8:1129341-1129342	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs114787585	chr8:1129365-1129366	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs545185940	chr8:1129371-1129372	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs558703788	chr8:1129394-1129395	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs17753522	chr8:1129397-1129398	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs541106657	chr8:1129398-1129399	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs540455148	chr8:1129405-1129406	Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs368571149	chr8:1129407-1129408	Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs560757512	chr8:1129433-1129434	Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs200965599	chr8:1129436-1129437	Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs529684018	chr8:1129437-1129438	Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs543808258	chr8:1129438-1129439	Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs563967013	chr8:1129439-1129440	Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs532581759	chr8:1129440-1129441	Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs372299818	chr8:1129445-1129446	Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs559496612	chr8:1129452-1129453	Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs528596082	chr8:1129474-1129475	Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs548651999	chr8:1129506-1129507	Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs114378901	chr8:1129511-1129512	Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs537403138	chr8:1129521-1129522	Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs191004554	chr8:1129522-1129523	Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:115)

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
Non-syndromic sensorineural hearing loss	19587683	CNVD

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:1124200-1129200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr8:1124800-1132400	Weak transcription	Fetal Kidney	kidney
3	chr8:1128400-1130800	Enhancers	Fetal Brain Male	brain
4	chr8:1128800-1129400	Enhancers	Fetal Brain Female	brain
5	chr8:1129200-1129400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr8:1129200-1129400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr8:1129400-1129600	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr8:1129400-1133200	Weak transcription	Fetal Brain Female	brain
9	chr8:1129600-1130400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr8:1130400-1130800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr8:1130600-1130800	Enhancers	Gastric	stomach
12	chr8:1130800-1131800	Weak transcription	Fetal Brain Male	brain
13	chr8:1130800-1132600	Weak transcription	Gastric	stomach
14	chr8:1130800-1134800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr8:1131800-1132000	Enhancers	Fetal Brain Male	brain
16	chr8:1132000-1132400	Weak transcription	Fetal Brain Male	brain
17	chr8:1132400-1132600	Enhancers	Fetal Kidney	kidney
18	chr8:1132400-1134200	Enhancers	Fetal Brain Male	brain
19	chr8:1132600-1133800	Enhancers	Gastric	stomach
20	chr8:1133200-1133600	Enhancers	Fetal Brain Female	brain
21	chr8:1134000-1134200	Enhancers	Brain Germinal Matrix	brain
22	chr8:1134600-1134800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
23	chr8:1134800-1135200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr8:1134800-1135400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr8:1135200-1136000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr8:1135400-1137600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr8:1135600-1135800	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
28	chr8:1136000-1136200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr8:1136000-1136200	Enhancers	Gastric	stomach
30	chr8:1137200-1138200	Enhancers	Adipose Nuclei	Adipose
31	chr8:1137600-1137800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr8:1140200-1141000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr8:1141000-1148400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr8:1143800-1144400	ZNF genes & repeats	Spleen	Spleen
35	chr8:1144400-1144800	Weak transcription	Spleen	Spleen
36	chr8:1144800-1145000	Enhancers	Spleen	Spleen
37	chr8:1144800-1145200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr8:1148400-1149000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr8:1148600-1151600	Weak transcription	Fetal Brain Male	brain
40	chr8:1149000-1149600	Enhancers	Brain Angular Gyrus	brain
41	chr8:1149000-1150400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr8:1149200-1150000	Enhancers	Brain Anterior Caudate	brain
43	chr8:1150000-1150200	Enhancers	Fetal Brain Female	brain
44	chr8:1150400-1151000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr8:1151000-1151600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr8:1151600-1151800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr8:1151600-1151800	ZNF genes & repeats	Fetal Brain Male	brain
48	chr8:1151600-1152000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr8:1151800-1152000	Enhancers	Fetal Brain Male	brain
50	chr8:1151800-1152000	ZNF genes & repeats	Fetal Kidney	kidney

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