Variant report

Variant	nsv397442
Chromosome Location	chr8:126416279-126420605
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:8)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:126418660..126421730-chr8:126442147..126445534,3	MCF-7	breast:
2	chr8:126416043..126420688-chr8:126441235..126444444,5	K562	blood:
3	chr8:126417845..126420968-chr8:126440192..126443831,4	MCF-7	breast:
4	chr8:126388142..126389944-chr8:126417069..126419677,2	MCF-7	breast:
5	chr8:126416710..126419523-chr8:126422808..126425210,2	K562	blood:
6	chr8:126420234..126422161-chr8:126424104..126426452,2	MCF-7	breast:
7	chr8:126417324..126419481-chr8:126440526..126442745,2	K562	blood:
8	chr8:126419619..126421632-chr8:126442280..126444744,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KIAA0196-7	chr8:126419744-126419817	NONHSAT128966

No data

Variant related genes	Relation type
ENSG00000173334	chromatin interactions

Extended variants
information (count: 151 )
Associated
traits (count: 144 )

Variant overlapped rSNPs/rCNVs (count:151 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546362762	chr8:126416299-126416300	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs566609369	chr8:126416301-126416302	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs535036622	chr8:126416304-126416305	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs554950765	chr8:126416339-126416340	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs575159797	chr8:126416396-126416397	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs537769491	chr8:126416400-126416401	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs527446415	chr8:126416411-126416412	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs544878742	chr8:126416414-126416415	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs182086762	chr8:126416415-126416416	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs112320447	chr8:126416426-126416427	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs79448680	chr8:126416442-126416443	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs556317244	chr8:126416483-126416484	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs11784803	chr8:126416486-126416487	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs574753468	chr8:126416490-126416491	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs140064582	chr8:126416496-126416497	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs573380818	chr8:126416515-126416516	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs374910170	chr8:126416531-126416532	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs542207532	chr8:126416534-126416535	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs369576589	chr8:126416575-126416576	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs73704985	chr8:126416583-126416584	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs185446596	chr8:126416707-126416708	Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs59147075	chr8:126416709-126416710	Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs531203947	chr8:126416719-126416720	Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs550971403	chr8:126416742-126416743	Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs564835768	chr8:126416792-126416793	Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs533354476	chr8:126416793-126416794	Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs547174699	chr8:126416795-126416796	Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs576311661	chr8:126416813-126416814	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs189923379	chr8:126416815-126416816	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs535189837	chr8:126416821-126416822	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs539365633	chr8:126416862-126416863	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs11985648	chr8:126416916-126416917	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs2980872	chr8:126416920-126416921	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs537878780	chr8:126416979-126416980	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs150300945	chr8:126417054-126417055	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs201312763	chr8:126417130-126417131	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs577918175	chr8:126417131-126417132	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs150545445	chr8:126417132-126417133	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs533705085	chr8:126417133-126417134	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs553944718	chr8:126417137-126417138	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs573343252	chr8:126417164-126417165	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs373042382	chr8:126417169-126417170	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs542366514	chr8:126417178-126417179	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs562193306	chr8:126417185-126417186	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs76982803	chr8:126417189-126417190	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs137961206	chr8:126417215-126417216	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs2954006	chr8:126417243-126417244	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs547238724	chr8:126417245-126417246	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs149484237	chr8:126417246-126417247	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs546843120	chr8:126417359-126417360	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:144)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Gastric cancer	17908304	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Testicular cancer	18059402	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
abnormal development	18461090	CNVD
Oral cancer	21386901	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	17603634	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	16751803	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	20729466	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	21399628	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	17393978	CNVD
Burkitt''s lymphoma	18698080	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Developmental delay	21147756	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Non-small cell lung cancer	19010865	CNVD
small cell lung cancer	20016488	CNVD
Papillary thyroid cancer	17515504	CNVD
Basal cell lymphoma	17053054	CNVD
Breast cancer	20932292	CNVD
Gastric cancer	22539939	CNVD
Breast cancer	22056952	CNVD
Langer-Giedion syndrome	16773131	CNVD
Lung cancer	16740712	CNVD
Mental retardation	16773131	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Langer-Giedion syndrome	22470819	CNVD
Cornelia de Lange syndrome	24599119	CNVD
Gastric cancer	21528007	CNVD
Breast cancer	22532251	CNVD
Cervical cancer	21062161	CNVD
Cancer	21129771	CNVD
benign familial neonatal convulsions	18472482	CNVD
Breast cancer	16417655	CNVD
Astrocytoma	17387387	CNVD
Cancer	21183584	CNVD
Follicular lymphoma	20505157	CNVD
T-cell lymphomas	19863542	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	20607354	CNVD
Breast cancer	20814816	CNVD
Colorectal cancer	22486879	CNVD
Breast cancer	17908964	CNVD
Colorectal cancer	20031965	CNVD
Hepatocellular carcinoma	16750200	CNVD
Ovarian cancer	17908964	CNVD
Ovarian cancer	20031965	CNVD
Prostate cancer	20031965	CNVD
Non-small cell lung cancer	17643093	CNVD
Prostate cancer	19242612	CNVD
Colorectal cancer	16774939	CNVD
Glioblastoma multiforme	18628472	CNVD
Malignant melanoma	17260012	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	16397240	CNVD
Multiple myeloma	16461302	CNVD
Multiple myeloma	16616336	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Breast cancer	21364760	CNVD
Burkitt''s lymphoma	20823134	CNVD
Colorectal cancer	21645411	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Acute myeloid leukemia	17268525	CNVD
Acute myeloid leukemia	18379011	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21611746	CNVD
Ductal carcinoma	22052326	CNVD
Gastric cancer	18160780	CNVD
Cancer	20164919	CNVD
Lung adenocarcinoma	21935476	CNVD
Breast cancer	22522925	CNVD
T-cell lymphomas	22341440	CNVD
Ovarian cancer	21240255	CNVD
Gastric cancer	21635755	CNVD

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:126404400-126424400	Weak transcription	Spleen	Spleen
2	chr8:126414000-126422800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr8:126414400-126417200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr8:126415400-126416600	Enhancers	Fetal Intestine Large	intestine
5	chr8:126415600-126417000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr8:126415800-126417000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr8:126416000-126417000	Weak transcription	HepG2	liver
8	chr8:126416000-126417200	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr8:126416600-126416800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr8:126416800-126417600	Enhancers	Lung	lung
11	chr8:126417000-126417200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr8:126417000-126417600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr8:126417000-126417800	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr8:126417000-126418000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr8:126417000-126418200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr8:126417000-126418200	Enhancers	HepG2	liver
17	chr8:126417000-126418200	Enhancers	HUVEC	blood vessel
18	chr8:126417200-126417600	Enhancers	Fetal Muscle Leg	muscle
19	chr8:126417200-126417800	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr8:126417200-126417800	Enhancers	H1 Cell Line	embryonic stem cell
21	chr8:126417200-126417800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr8:126417200-126417800	Enhancers	Fetal Muscle Trunk	muscle
23	chr8:126417200-126417800	Enhancers	NH-A	brain
24	chr8:126417400-126417800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr8:126417400-126417800	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr8:126417400-126417800	Enhancers	Ovary	ovary
27	chr8:126417600-126418000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr8:126417600-126418000	Enhancers	A549	lung
29	chr8:126417600-126423000	Weak transcription	Lung	lung
30	chr8:126417800-126419600	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr8:126417800-126422400	Weak transcription	NH-A	brain
32	chr8:126417800-126422800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr8:126417800-126422800	Weak transcription	Ovary	ovary
34	chr8:126417800-126423200	Weak transcription	Fetal Muscle Trunk	muscle
35	chr8:126417800-126426200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr8:126417800-126430200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr8:126418000-126421800	Weak transcription	A549	lung
38	chr8:126418000-126424800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr8:126418200-126421000	Weak transcription	HepG2	liver
40	chr8:126418200-126422400	Weak transcription	HUVEC	blood vessel

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