Variant report

Variant	esv3360088
Chromosome Location	chr16:71451349-71454824
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:71451545..71453990-chr16:71457536..71460317,2	K562	blood:
2	chr16:71446996..71448585-chr16:71450249..71452209,2	MCF-7	breast:
3	chr16:71452691..71455669-chr16:71459394..71461176,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CALB2-5	chr16:71454386-71454509	NONHSAT143473

Variant related genes	Relation type
ENSG00000261348	chromatin interactions

Extended variants
information (count: 122 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:122 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs192339204	chr16:71451359-71451360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs560961246	chr16:71451412-71451413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs183948744	chr16:71451422-71451423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs66778248	chr16:71451424-71451425	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs8045741	chr16:71451444-71451445	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs571283787	chr16:71451470-71451471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs538345057	chr16:71451481-71451482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs147680362	chr16:71451495-71451496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs117771408	chr16:71451526-71451527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs568689817	chr16:71451583-71451584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs576888976	chr16:71451588-71451589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs374983094	chr16:71451671-71451672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs536146470	chr16:71451691-71451692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs554541391	chr16:71451761-71451762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs142407021	chr16:71451786-71451787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs567556535	chr16:71451798-71451799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs146616298	chr16:71451861-71451862	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs188842065	chr16:71451882-71451883	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs539553634	chr16:71451899-71451900	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs578171652	chr16:71451959-71451960	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs553284008	chr16:71452066-71452067	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs545474757	chr16:71452098-71452099	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs573151366	chr16:71452171-71452172	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs78428276	chr16:71452178-71452179	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs535696130	chr16:71452206-71452207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs575878639	chr16:71452222-71452223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs543320367	chr16:71452281-71452282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs561456715	chr16:71452306-71452307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs528758929	chr16:71452312-71452313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs561009088	chr16:71452371-71452372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs564530777	chr16:71452387-71452388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs12922597	chr16:71452393-71452394	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs150456633	chr16:71452415-71452416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs138304172	chr16:71452440-71452441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs143102252	chr16:71452441-71452442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs146181658	chr16:71452460-71452461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs77529319	chr16:71452464-71452465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs137901353	chr16:71452465-71452466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs7192890	chr16:71452475-71452476	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs558200418	chr16:71452482-71452483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs539157875	chr16:71452569-71452570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs557455211	chr16:71452578-71452579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs192101729	chr16:71452579-71452580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs12444714	chr16:71452606-71452607	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs113026781	chr16:71452631-71452632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs374671742	chr16:71452676-71452677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs559448675	chr16:71452677-71452678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs112278838	chr16:71452705-71452706	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs548206239	chr16:71452732-71452733	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs568641544	chr16:71452738-71452739	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:70)

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
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	18632612	CNVD
T-cell prolymphocytic leukemia	19278963	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
Ovarian cancer	22174824	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	17001317	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Prostate cancer	16573809	CNVD
Chordoma	18071362	CNVD
Prostate cancer	17245344	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute myeloid leukemia	16864856	CNVD
Infiltrating lobular breast cancer	19191266	CNVD
T-cell lymphomas	19863542	CNVD
Hepatocellular carcinoma	16750200	CNVD
Medulloblastoma	16783165	CNVD
Neuroblastoma	21899760	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	18628472	CNVD
Breast cancer	21806811	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21509527	CNVD
Melanoma	22183965	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Neuroblastoma	18923524	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:71446800-71459600	Weak transcription	Spleen	Spleen
2	chr16:71448200-71455600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr16:71451800-71452200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
4	chr16:71452000-71452200	Bivalent Enhancer	HepG2	liver

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links