Variant report

Variant	nsv1029164
Chromosome Location	chr8:1218023-1247876
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:4)
LncRNA
region (count:25)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:1218264..1220141-chr8:1221111..1222674,2	K562	blood:
2	chr8:1218051..1219861-chr8:1223791..1226453,2	K562	blood:
3	chr8:1218051..1219861-chr8:1223791..1226453,2	K562	blood:
4	chr8:1218264..1220141-chr8:1221111..1222674,2	K562	blood:

(count:25 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ERICH1-2	chr8:1236494-1236531	XLOC_006972
2	lnc-ERICH1-2	chr8:1236704-1236876	XLOC_006972
3	lnc-ERICH1-2	chr8:1236888-1236922	XLOC_006972
4	lnc-ERICH1-2	chr8:1236982-1237155	XLOC_006972
5	lnc-ERICH1-2	chr8:1236613-1236870	XLOC_006972
6	lnc-ERICH1-2	chr8:1236775-1236876	XLOC_006972
7	lnc-ERICH1-3	chr8:1244294-1244463	NONHSAT124652
8	lnc-ERICH1-2	chr8:1232700-1232895	refGeneNc_4249_NR_033895
9	lnc-ERICH1-2	chr8:1235591-1238234	refGeneNc_4249_NR_033895
10	lnc-ERICH1-3	chr8:1245293-1245488	NR_033895
11	lnc-ERICH1-3	chr8:1245293-1245488	NONHSAT124652
12	lnc-ERICH1-2	chr8:1236403-1236612	XLOC_006972
13	lnc-ERICH1-3	chr8:1244295-1244463	XLOC_006971
14	lnc-ERICH1-2	chr8:1236383-1236876	NONHSAT124646
15	lnc-ERICH1-3	chr8:1244294-1244463	NR_033895
16	lnc-ERICH1-3	chr8:1245293-1245488	XLOC_006971
17	lnc-ERICH1-2	chr8:1236927-1237155	XLOC_006972
18	lnc-ERICH1-2	chr8:1231702-1231870	refGeneNc_4249_NR_033895
19	lnc-ERICH1-2	chr8:1236982-1237027	XLOC_006972
20	lnc-ERICH1-2	chr8:1236927-1237971	XLOC_006972
21	lnc-ERICH1-2	chr8:1236982-1237178	XLOC_006972
22	lnc-ERICH1-3	chr8:1244292-1244463	ENSG00000253640
23	lnc-ERICH1-3	chr8:1231015-1231036	XLOC_006971
24	lnc-ERICH1-3	chr8:1245293-1245488	ENSG00000253640
25	lnc-ERICH1-2	chr8:1236982-1237014	NONHSAT124646

No data

Variant related genes	Relation type
SUN2	miRNA target sites
SUFU	miRNA target sites
IL13	miRNA target sites
SUMF1	miRNA target sites

Extended variants
information (count: 2058 )
Associated
traits (count: 113 )

Variant overlapped rSNPs/rCNVs (count:2058 , 50 per page) page: 1 2 3 4 5 6 7 ... 42

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs76457059	chr8:1218038-1218039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs542230004	chr8:1218041-1218042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs534602659	chr8:1218125-1218126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs528553893	chr8:1218135-1218136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs147028422	chr8:1218144-1218145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs189996338	chr8:1218162-1218163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs116355447	chr8:1218191-1218192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs147671944	chr8:1218192-1218193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs369951947	chr8:1218228-1218229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs577356889	chr8:1218233-1218234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs75180929	chr8:1218257-1218258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs4272406	chr8:1218258-1218259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs538015472	chr8:1218280-1218281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs7006221	chr8:1218297-1218298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs112933978	chr8:1218307-1218308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs541834857	chr8:1218313-1218314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs561904599	chr8:1218326-1218327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs574702542	chr8:1218336-1218337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs543333494	chr8:1218351-1218352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs111623640	chr8:1218356-1218357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs571351291	chr8:1218385-1218386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs140369195	chr8:1218424-1218425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs138425189	chr8:1218436-1218437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs138983564	chr8:1218487-1218488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs112483076	chr8:1218488-1218489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs563878216	chr8:1218489-1218490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs149401395	chr8:1218493-1218494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs548196401	chr8:1218494-1218495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs375719373	chr8:1218505-1218506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs567947581	chr8:1218509-1218510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs6985628	chr8:1218533-1218534	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs117351225	chr8:1218539-1218540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs145832493	chr8:1218543-1218544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs539656692	chr8:1218559-1218560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs571696021	chr8:1218593-1218594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs137925273	chr8:1218594-1218595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs192133332	chr8:1218631-1218632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs535531926	chr8:1218666-1218667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs184346896	chr8:1218683-1218684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs575539476	chr8:1218687-1218688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs142481533	chr8:1218711-1218712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs563437805	chr8:1218719-1218720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs7006713	chr8:1218733-1218734	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs546044261	chr8:1218735-1218736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs555596561	chr8:1218753-1218754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs370369962	chr8:1218765-1218766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs574175533	chr8:1218767-1218768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs56384711	chr8:1218772-1218773	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs547970616	chr8:1218778-1218779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs544758898	chr8:1218797-1218798	Weak transcription	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:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:1217400-1229600	Weak transcription	Gastric	stomach
2	chr8:1218800-1219400	Enhancers	H1 Cell Line	embryonic stem cell
3	chr8:1219000-1219600	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr8:1219200-1219400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr8:1219200-1223000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr8:1219400-1220600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr8:1219400-1223000	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr8:1219600-1223200	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr8:1220600-1221000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
10	chr8:1220600-1221000	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
11	chr8:1221000-1223200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr8:1222600-1223800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr8:1223000-1223600	Enhancers	H1 Cell Line	embryonic stem cell
14	chr8:1223000-1223600	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr8:1223000-1223600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr8:1223200-1223600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr8:1223200-1223600	Enhancers	H9 Cell Line	embryonic stem cell
18	chr8:1223200-1223600	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr8:1223200-1223600	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr8:1223200-1223600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr8:1223200-1223600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
22	chr8:1223600-1224800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr8:1223600-1224800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr8:1223600-1225200	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr8:1223600-1231800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr8:1223800-1242200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr8:1224800-1225000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr8:1225000-1225200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr8:1225000-1225200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr8:1225200-1225600	Enhancers	H9 Cell Line	embryonic stem cell
31	chr8:1225200-1232000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr8:1227600-1227800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr8:1229600-1230000	Active TSS	Gastric	stomach
34	chr8:1230000-1232400	Weak transcription	Gastric	stomach
35	chr8:1230800-1231000	Bivalent Enhancer	H9 Cell Line	embryonic stem cell
36	chr8:1231400-1232600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr8:1231800-1232800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr8:1232000-1232800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr8:1232200-1232800	ZNF genes & repeats	Spleen	Spleen
40	chr8:1232400-1232600	ZNF genes & repeats	Gastric	stomach
41	chr8:1232400-1233800	Enhancers	Fetal Brain Male	brain
42	chr8:1232600-1236800	Weak transcription	Gastric	stomach
43	chr8:1232800-1234000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr8:1232800-1234000	Enhancers	Fetal Brain Female	brain
45	chr8:1232800-1234600	Weak transcription	Spleen	Spleen
46	chr8:1232800-1240400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr8:1233800-1236400	Weak transcription	Fetal Brain Male	brain
48	chr8:1234000-1234200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr8:1234200-1234800	Enhancers	Colon Smooth Muscle	Colon
50	chr8:1236400-1237600	Enhancers	Fetal Brain Male	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links