Variant report

Variant	nsv572950
Chromosome Location	chr16:71988728-72020323
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:23)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:23 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:71988031..71990752-chr16:71994880..71997140,2	K562	blood:
2	chr16:71928111..71930249-chr16:71995489..71998686,3	MCF-7	breast:
3	chr16:72007410..72009098-chr16:72012939..72014517,2	MCF-7	breast:
4	chr16:71917541..71918434-chr16:71995070..71995707,2	K562	blood:
5	chr16:72014379..72015959-chr16:72041057..72043484,2	MCF-7	breast:
6	chr16:71780313..71780916-chr16:71995065..71995870,2	MCF-7	breast:
7	chr16:71927425..71930788-chr16:71993636..71995845,3	MCF-7	breast:
8	chr16:71879940..71882947-chr16:71994188..71997144,3	MCF-7	breast:
9	chr16:71841550..71843777-chr16:72006642..72008722,2	K562	blood:
10	chr16:71924634..71926164-chr16:71990513..71992754,2	MCF-7	breast:
11	chr16:71880303..71880911-chr16:71995074..71995598,2	MCF-7	breast:
12	chr16:71916749..71918531-chr16:71994813..71997019,2	MCF-7	breast:
13	chr16:71988031..71990752-chr16:71994880..71997140,2	K562	blood:
14	chr16:72017350..72022050-chr16:72041006..72044601,5	MCF-7	breast:
15	chr16:72006080..72007821-chr16:72022515..72024067,2	MCF-7	breast:
16	chr16:71679083..71679969-chr16:71995039..71995544,2	K562	blood:
17	chr16:71917299..71918017-chr16:71995178..71995991,2	MCF-7	breast:
18	chr16:72007138..72009453-chr16:72012679..72014251,2	K562	blood:
19	chr16:72007410..72009098-chr16:72012939..72014517,2	MCF-7	breast:
20	chr16:72007138..72009453-chr16:72012679..72014251,2	K562	blood:
21	chr16:71981622..71984385-chr16:71994653..71997032,2	MCF-7	breast:
22	chr16:72001943..72003668-chr16:72042372..72044249,2	MCF-7	breast:
23	chr16:71644466..71645406-chr16:71995435..71996080,2	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-IST1-2	chr16:72012057-72012793	ucscGeneNc_uc002fco_1
2	lnc-IST1-2	chr16:72011493-72011630	ucscGeneNc_uc002fco_1

No data

Variant related genes	Relation type
ENSG00000224470	chromatin interactions
ENSG00000166747	chromatin interactions
ENSG00000102984	chromatin interactions
ENSG00000182149	chromatin interactions
ENSG00000102967	chromatin interactions

Extended variants
information (count: 1698 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:1698 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2303220	chr16:71988728-71988729	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs141379676	chr16:71988787-71988788	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs565607822	chr16:71988798-71988799	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs577625772	chr16:71988811-71988812	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs544774316	chr16:71988814-71988815	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs563097911	chr16:71988868-71988869	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs556727370	chr16:71988897-71988898	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs529746941	chr16:71988919-71988920	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs548306446	chr16:71988930-71988931	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs150224786	chr16:71988941-71988942	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs559876687	chr16:71988949-71988950	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs527316331	chr16:71989002-71989003	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs551776202	chr16:71989005-71989006	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs570380420	chr16:71989011-71989012	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs188702641	chr16:71989032-71989033	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs549663762	chr16:71989071-71989072	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs181079289	chr16:71989095-71989096	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs536341629	chr16:71989098-71989099	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs80134246	chr16:71989123-71989124	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs547764936	chr16:71989128-71989129	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs184146324	chr16:71989236-71989237	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs150822041	chr16:71989262-71989263	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs559000606	chr16:71989299-71989300	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs577565147	chr16:71989351-71989352	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs544934263	chr16:71989379-71989380	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs188425214	chr16:71989386-71989387	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs565293353	chr16:71989393-71989394	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs531106267	chr16:71989412-71989413	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs62053803	chr16:71989413-71989414	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs375745142	chr16:71989423-71989424	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs570915172	chr16:71989428-71989429	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs533588991	chr16:71989458-71989459	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs139277675	chr16:71989465-71989466	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs560163692	chr16:71989476-71989477	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs527401537	chr16:71989481-71989482	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs551715137	chr16:71989524-71989525	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs546749012	chr16:71989534-71989535	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs563742398	chr16:71989537-71989538	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs149563042	chr16:71989553-71989554	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs542446081	chr16:71989569-71989570	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs370356360	chr16:71989606-71989607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs550092837	chr16:71989622-71989623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs568148340	chr16:71989670-71989671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs561082844	chr16:71989675-71989676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs180815967	chr16:71989695-71989696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs8048947	chr16:71989711-71989712	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs566928126	chr16:71989714-71989715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs146078957	chr16:71989729-71989730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs187306213	chr16:71989732-71989733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs192153900	chr16:71989844-71989845	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
Neuroblastoma	18923524	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:71968800-71995400	Weak transcription	Right Atrium	heart
2	chr16:71969600-71990600	Weak transcription	Adipose Nuclei	Adipose
3	chr16:71969600-71999200	Weak transcription	Liver	Liver
4	chr16:71986800-71988800	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr16:71986800-71989200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr16:71987600-71989200	Enhancers	Primary B cells from peripheral blood	blood
7	chr16:71987800-71990200	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr16:71988200-71989400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr16:71988200-71990200	Weak transcription	Primary neutrophils fromperipheralblood	blood
10	chr16:71988200-71990400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr16:71988800-71989200	Enhancers	GM12878-XiMat	blood
12	chr16:71988800-71989600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr16:71988800-71989800	Weak transcription	Primary monocytes fromperipheralblood	blood
14	chr16:71989200-71990200	Weak transcription	Primary B cells from peripheral blood	blood
15	chr16:71989200-71990200	Weak transcription	GM12878-XiMat	blood
16	chr16:71989200-71990400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr16:71989600-71995000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr16:71989800-71991200	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr16:71990000-71990800	Enhancers	Primary T helper cells fromperipheralblood	blood
20	chr16:71990200-71990600	Enhancers	Primary B cells from peripheral blood	blood
21	chr16:71990200-71990600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
22	chr16:71990200-71990600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
23	chr16:71990200-71991000	Enhancers	Primary neutrophils fromperipheralblood	blood
24	chr16:71990200-71991200	Enhancers	GM12878-XiMat	blood
25	chr16:71990400-71990800	Enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr16:71990400-71990800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr16:71990400-71991000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
28	chr16:71990400-71991000	Enhancers	Primary T helper naive cells from peripheral blood	blood
29	chr16:71990400-71991000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
30	chr16:71990400-71991000	Enhancers	Primary T helper cells PMA-I stimulated	--
31	chr16:71990400-71991000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
32	chr16:71990400-71991000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr16:71990400-71991000	Enhancers	Dnd41	blood
34	chr16:71990400-71991200	Enhancers	Primary B cells from cord blood	blood
35	chr16:71990600-71990800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr16:71990600-71991000	Enhancers	Primary T cells from cord blood	blood
37	chr16:71990600-71991000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr16:71990600-71991000	Enhancers	Monocytes-CD14+_RO01746	blood
39	chr16:71990600-71993600	Weak transcription	Primary B cells from peripheral blood	blood
40	chr16:71991200-71993600	Weak transcription	Primary monocytes fromperipheralblood	blood
41	chr16:71991200-71993600	Weak transcription	Primary B cells from cord blood	blood
42	chr16:71993200-71994200	Enhancers	GM12878-XiMat	blood
43	chr16:71993600-71994000	Enhancers	Primary monocytes fromperipheralblood	blood
44	chr16:71993600-71994000	Enhancers	Primary B cells from cord blood	blood
45	chr16:71993600-71994200	Enhancers	Primary B cells from peripheral blood	blood
46	chr16:71994000-71994200	Enhancers	Stomach Mucosa	stomach
47	chr16:71994200-71995200	Weak transcription	Primary B cells from peripheral blood	blood
48	chr16:71994200-71999000	Weak transcription	Stomach Mucosa	stomach
49	chr16:71995000-71995600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr16:71995000-71996000	Enhancers	HepG2	liver

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links