Variant report

Variant	esv3375126
Chromosome Location	chr16:48075651-48080349
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	chr16:47495048..47495737-chr16:48075865..48076453,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000102893	chromatin interactions
ENSG00000129636	chromatin interactions

Extended variants
information (count: 149 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:149 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs369947438	chr16:48075708-48075709	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs139981886	chr16:48075718-48075719	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs573106806	chr16:48075721-48075722	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs72024427	chr16:48075724-48075725	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs372305898	chr16:48075726-48075727	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs140627177	chr16:48075729-48075730	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs558377065	chr16:48075732-48075733	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs138175277	chr16:48075735-48075736	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs561288259	chr16:48075738-48075739	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs543137127	chr16:48075745-48075746	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs369524547	chr16:48075828-48075829	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs35204764	chr16:48075842-48075843	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs547107101	chr16:48075875-48075876	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs200047579	chr16:48075889-48075890	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs566831371	chr16:48075941-48075942	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs532589695	chr16:48075952-48075953	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs552318960	chr16:48075965-48075966	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs149562161	chr16:48076042-48076043	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs377173113	chr16:48076061-48076062	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs143604565	chr16:48076100-48076101	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs554963748	chr16:48076106-48076107	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs567292743	chr16:48076117-48076118	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs535853993	chr16:48076121-48076122	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs555040295	chr16:48076161-48076162	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs77150152	chr16:48076180-48076181	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs572944095	chr16:48076255-48076256	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs545239056	chr16:48076263-48076264	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs117959138	chr16:48076272-48076273	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs575612234	chr16:48076276-48076277	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs544541748	chr16:48076297-48076298	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs138170389	chr16:48076298-48076299	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs143644772	chr16:48076319-48076320	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs540237140	chr16:48076326-48076327	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs543415264	chr16:48076427-48076428	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs560651409	chr16:48076442-48076443	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs562807849	chr16:48076481-48076482	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs559773945	chr16:48076482-48076483	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs147185264	chr16:48076537-48076538	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs562790460	chr16:48076640-48076641	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs35902469	chr16:48076715-48076716	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs59025451	chr16:48076769-48076770	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs368819179	chr16:48076785-48076786	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs140480361	chr16:48076796-48076797	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs141222063	chr16:48076822-48076823	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs536263347	chr16:48076893-48076894	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs181539124	chr16:48076919-48076920	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs141427771	chr16:48076932-48076933	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs368366956	chr16:48076934-48076935	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs538689742	chr16:48076936-48076937	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs150742004	chr16:48076939-48076940	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Schizophrenia	22958593	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Wilms tumour	21544195	CNVD
Cancer	20164920	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	18632612	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16702952	CNVD
Medulloblastoma	16968546	CNVD
Prostate cancer	19242612	CNVD
Cancer	22429812	CNVD
Ewing''s sarcoma	21437220	CNVD
Ewing''s sarcoma	22429812	CNVD
Melanoma	18172304	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Multiple myeloma	21628407	CNVD
Renal cell carcinoma	18765545	CNVD
Sudden cardiac death	19188705	CNVD
Multiple myeloma	16616336	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	21364760	CNVD
Ewing''s sarcoma	17952124	CNVD
Myelofibrosis	22110671	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD
Bladder cancer	21909424	CNVD
Colorectal cancer	19359472	CNVD
Olfactory neuroblastoma	18408657	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	17001317	CNVD
Breast cancer	17133270	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Disease	22140031	CNVD
Non-syndromic sensorineural hearing loss	22140031	CNVD

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:48072000-48075800	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr16:48073600-48075800	Weak transcription	Fetal Brain Male	brain
3	chr16:48074800-48077200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr16:48074800-48077400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr16:48075000-48075800	Weak transcription	Spleen	Spleen
6	chr16:48075000-48077400	Enhancers	Fetal Brain Female	brain
7	chr16:48075200-48077200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr16:48075400-48077200	Enhancers	Brain Germinal Matrix	brain
9	chr16:48075800-48076200	Enhancers	Fetal Muscle Leg	muscle
10	chr16:48075800-48076200	Enhancers	Left Ventricle	heart
11	chr16:48075800-48076200	Enhancers	Skeletal Muscle Male	skeletal muscle
12	chr16:48075800-48077200	Enhancers	Spleen	Spleen
13	chr16:48075800-48077400	Enhancers	Fetal Brain Male	brain
14	chr16:48075800-48077600	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr16:48076000-48076200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
16	chr16:48076000-48076600	Enhancers	Brain Hippocampus Middle	brain
17	chr16:48076000-48077400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr16:48076200-48076600	Enhancers	Brain Cingulate Gyrus	brain
19	chr16:48076200-48088800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr16:48077200-48079400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr16:48077200-48081400	Weak transcription	Spleen	Spleen
22	chr16:48077400-48081200	Weak transcription	Fetal Brain Male	brain
23	chr16:48077400-48086000	Weak transcription	Fetal Brain Female	brain
24	chr16:48077600-48079200	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr16:48077600-48081000	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr16:48078600-48079200	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr16:48078600-48079400	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr16:48078600-48079800	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr16:48079000-48079400	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr16:48079200-48079600	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr16:48079200-48087200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr16:48079400-48079600	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr16:48079400-48079800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr16:48079400-48087200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr16:48079600-48080800	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr16:48079800-48080800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr16:48079800-48086800	Weak transcription	HUES64 Cell Line	embryonic stem cell

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