Variant report

Variant	nsv526274
Chromosome Location	chr8:1224284-1240646
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:1)
LncRNA
region (count:17)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:1218051..1219861-chr8:1223791..1226453,2	K562	blood:

(count:17 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ERICH1-2	chr8:1236927-1237971	XLOC_006972
2	lnc-ERICH1-2	chr8:1232700-1232895	refGeneNc_4249_NR_033895
3	lnc-ERICH1-2	chr8:1236982-1237155	XLOC_006972
4	lnc-ERICH1-2	chr8:1235591-1238234	refGeneNc_4249_NR_033895
5	lnc-ERICH1-2	chr8:1236982-1237014	NONHSAT124646
6	lnc-ERICH1-2	chr8:1236775-1236876	XLOC_006972
7	lnc-ERICH1-2	chr8:1236403-1236612	XLOC_006972
8	lnc-ERICH1-3	chr8:1231015-1231036	XLOC_006971
9	lnc-ERICH1-2	chr8:1236494-1236531	XLOC_006972
10	lnc-ERICH1-2	chr8:1236613-1236870	XLOC_006972
11	lnc-ERICH1-2	chr8:1236982-1237027	XLOC_006972
12	lnc-ERICH1-2	chr8:1236927-1237155	XLOC_006972
13	lnc-ERICH1-2	chr8:1231702-1231870	refGeneNc_4249_NR_033895
14	lnc-ERICH1-2	chr8:1236704-1236876	XLOC_006972
15	lnc-ERICH1-2	chr8:1236888-1236922	XLOC_006972
16	lnc-ERICH1-2	chr8:1236982-1237178	XLOC_006972
17	lnc-ERICH1-2	chr8:1236383-1236876	NONHSAT124646

No data

Variant related genes	Relation type
SUMF1	miRNA target sites
SUFU	miRNA target sites
SUN2	miRNA target sites

Extended variants
information (count: 1132 )
Associated
traits (count: 113 )

Variant overlapped rSNPs/rCNVs (count:1132 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4295683	chr8:1224284-1224285	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs140194460	chr8:1224296-1224297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs537017715	chr8:1224298-1224299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs149817488	chr8:1224352-1224353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs73170406	chr8:1224353-1224354	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs35370334	chr8:1224366-1224367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs117159995	chr8:1224368-1224369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs35041686	chr8:1224388-1224389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs547180335	chr8:1224394-1224395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs567315713	chr8:1224404-1224405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs201768389	chr8:1224424-1224425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs191414687	chr8:1224437-1224438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs549777745	chr8:1224439-1224440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs28635835	chr8:1224444-1224445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs373247792	chr8:1224452-1224453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs28588527	chr8:1224467-1224468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs572542382	chr8:1224473-1224474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs370564421	chr8:1224476-1224477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs183947562	chr8:1224484-1224485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs188720737	chr8:1224503-1224504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs574557900	chr8:1224513-1224514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs543433922	chr8:1224514-1224515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs181279549	chr8:1224523-1224524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs28535229	chr8:1224524-1224525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs186791298	chr8:1224530-1224531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs544972812	chr8:1224535-1224536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs370576152	chr8:1224564-1224565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs71190709	chr8:1224592-1224593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs190061980	chr8:1224604-1224605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs62483874	chr8:1224616-1224617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs186530174	chr8:1224642-1224643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs189790828	chr8:1224657-1224658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs182454757	chr8:1224663-1224664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs55817647	chr8:1224672-1224673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs145930765	chr8:1224696-1224697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs59934877	chr8:1224730-1224731	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs4517146	chr8:1224735-1224736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs115060040	chr8:1224737-1224738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs144669577	chr8:1224758-1224759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs143498791	chr8:1224764-1224765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs147601260	chr8:1224856-1224857	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs10096306	chr8:1224860-1224861	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs185697298	chr8:1224876-1224877	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs73535686	chr8:1224877-1224878	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs148498891	chr8:1224908-1224909	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs145804283	chr8:1224937-1224938	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs555115765	chr8:1224938-1224939	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs114606998	chr8:1224959-1224960	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs75157963	chr8:1224972-1224973	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs200028216	chr8:1225027-1225028	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:113)

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
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:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:1217400-1229600	Weak transcription	Gastric	stomach
2	chr8:1223600-1224800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr8:1223600-1224800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr8:1223600-1225200	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr8:1223600-1231800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr8:1223800-1242200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr8:1224800-1225000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr8:1225000-1225200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr8:1225000-1225200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr8:1225200-1225600	Enhancers	H9 Cell Line	embryonic stem cell
11	chr8:1225200-1232000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr8:1227600-1227800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr8:1229600-1230000	Active TSS	Gastric	stomach
14	chr8:1230000-1232400	Weak transcription	Gastric	stomach
15	chr8:1230800-1231000	Bivalent Enhancer	H9 Cell Line	embryonic stem cell
16	chr8:1231400-1232600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr8:1231800-1232800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr8:1232000-1232800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr8:1232200-1232800	ZNF genes & repeats	Spleen	Spleen
20	chr8:1232400-1232600	ZNF genes & repeats	Gastric	stomach
21	chr8:1232400-1233800	Enhancers	Fetal Brain Male	brain
22	chr8:1232600-1236800	Weak transcription	Gastric	stomach
23	chr8:1232800-1234000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr8:1232800-1234000	Enhancers	Fetal Brain Female	brain
25	chr8:1232800-1234600	Weak transcription	Spleen	Spleen
26	chr8:1232800-1240400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr8:1233800-1236400	Weak transcription	Fetal Brain Male	brain
28	chr8:1234000-1234200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr8:1234200-1234800	Enhancers	Colon Smooth Muscle	Colon
30	chr8:1236400-1237600	Enhancers	Fetal Brain Male	brain
31	chr8:1236600-1236800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
32	chr8:1236600-1236800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr8:1236800-1237000	Flanking Active TSS	Gastric	stomach
34	chr8:1236800-1237000	Enhancers	Spleen	Spleen
35	chr8:1236800-1237200	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
36	chr8:1236800-1237200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
37	chr8:1236800-1237200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
38	chr8:1236800-1237200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
39	chr8:1236800-1237200	Enhancers	Primary T helper cells fromperipheralblood	blood
40	chr8:1236800-1237200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
41	chr8:1236800-1237200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
42	chr8:1236800-1237200	Active TSS	Adipose Nuclei	Adipose
43	chr8:1236800-1237200	Active TSS	Duodenum Mucosa	Duodenum
44	chr8:1236800-1237200	Active TSS	Fetal Kidney	kidney
45	chr8:1236800-1237600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr8:1237000-1237200	Enhancers	Primary T helper naive cells from peripheral blood	blood
47	chr8:1237000-1237200	Active TSS	Gastric	stomach
48	chr8:1237200-1237400	Enhancers	Primary T helper cells PMA-I stimulated	--
49	chr8:1237200-1237400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
50	chr8:1237200-1237600	Enhancers	Adipose Nuclei	Adipose

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