Variant report

Variant	esv2758662
Chromosome Location	chr16:79894964-79923310
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:29)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:29 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:79897255..79898930-chr16:79902918..79904789,2	MCF-7	breast:
2	chr16:79896418..79898916-chr16:79909922..79912036,2	K562	blood:
3	chr16:79905011..79907588-chr16:79908993..79911788,2	MCF-7	breast:
4	chr16:79890773..79893231-chr16:79899316..79902167,2	K562	blood:
5	chr16:79902555..79905597-chr16:79906895..79909877,5	K562	blood:
6	chr16:79896418..79898916-chr16:79909922..79912036,2	K562	blood:
7	chr16:79918690..79920713-chr16:79920839..79923822,2	K562	blood:
8	chr16:79897255..79898930-chr16:79902918..79904789,2	MCF-7	breast:
9	chr16:79919007..79921111-chr16:79925288..79927075,2	K562	blood:
10	chr16:79902555..79905597-chr16:79906895..79909877,3	K562	blood:
11	chr16:79913200..79915535-chr16:79917130..79919607,2	MCF-7	breast:
12	chr16:79908657..79911589-chr16:79915100..79917663,2	K562	blood:
13	chr16:79918690..79920713-chr16:79920839..79923822,2	K562	blood:
14	chr16:79905011..79907588-chr16:79908993..79911788,2	MCF-7	breast:
15	chr16:79891351..79893625-chr16:79919573..79921635,2	MCF-7	breast:
16	chr16:79902555..79905597-chr16:79906895..79909877,5	K562	blood:
17	chr16:79891731..79895765-chr16:79895938..79901125,6	K562	blood:
18	chr16:79875829..79877990-chr16:79901353..79904058,2	K562	blood:
19	chr16:79902555..79905597-chr16:79906895..79909877,3	K562	blood:
20	chr16:79898173..79900300-chr16:79901659..79904931,3	K562	blood:
21	chr16:79905342..79909928-chr16:79910179..79915093,7	K562	blood:
22	chr16:79892054..79894771-chr16:79895938..79898564,3	K562	blood:
23	chr16:79898173..79900300-chr16:79901659..79904931,3	K562	blood:
24	chr16:79918519..79921940-chr16:79923355..79927904,4	MCF-7	breast:
25	chr16:79913200..79915535-chr16:79917130..79919607,2	MCF-7	breast:
26	chr16:79908657..79911589-chr16:79915100..79917663,2	K562	blood:
27	chr16:79905342..79909928-chr16:79910179..79915093,7	K562	blood:
28	chr16:79891731..79895765-chr16:79895938..79901125,6	K562	blood:
29	chr16:79875743..79877329-chr16:79901353..79903066,2	K562	blood:

No data

Extended variants
information (count: 1931 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:1931 , 50 per page) page: 1 2 3 4 5 6 7 ... 39

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7206752	chr16:79894964-79894965	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs541463333	chr16:79894971-79894972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs16951542	chr16:79894984-79894985	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs62042436	chr16:79895027-79895028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs548400794	chr16:79895031-79895032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs149488108	chr16:79895035-79895036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs531424459	chr16:79895037-79895038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs75733175	chr16:79895049-79895050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs74038053	chr16:79895058-79895059	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs538226493	chr16:79895072-79895073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs547418208	chr16:79895140-79895141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs565631273	chr16:79895143-79895144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs8043758	chr16:79895147-79895148	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs148632612	chr16:79895158-79895159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs576542506	chr16:79895187-79895188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs12920099	chr16:79895216-79895217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs142193807	chr16:79895235-79895236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs554120433	chr16:79895242-79895243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs74673602	chr16:79895271-79895272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs146362369	chr16:79895285-79895286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs559657555	chr16:79895301-79895302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs374836416	chr16:79895306-79895307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs114981332	chr16:79895309-79895310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs563646936	chr16:79895321-79895322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs75695319	chr16:79895322-79895323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs371305225	chr16:79895334-79895335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs4410095	chr16:79895355-79895356	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs139763972	chr16:79895358-79895359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs565465202	chr16:79895385-79895386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs184186031	chr16:79895395-79895396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs547386818	chr16:79895433-79895434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs565626403	chr16:79895436-79895437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs76594452	chr16:79895452-79895453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs548248861	chr16:79895461-79895462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs541820161	chr16:79895468-79895469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs373931346	chr16:79895471-79895472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs187418201	chr16:79895472-79895473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs537637146	chr16:79895476-79895477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs79657257	chr16:79895477-79895478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs73574067	chr16:79895498-79895499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs535288138	chr16:79895503-79895504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs184078262	chr16:79895504-79895505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs8064134	chr16:79895522-79895523	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs377524907	chr16:79895531-79895532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs572117908	chr16:79895535-79895536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs563781696	chr16:79895547-79895548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs575382174	chr16:79895550-79895551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs74399167	chr16:79895563-79895564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs548009274	chr16:79895573-79895574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs374886583	chr16:79895582-79895583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

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
Breast cancer	17603634	CNVD
Prostate cancer	16573809	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 lymphoblastic leukemia	20067559	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21806811	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Lung cancer	18438408	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Adrenocortical carcinoma	18281524	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Hypoplastic left heart syndrome	22349727	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Autism	21865298	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:79894200-79896400	Weak transcription	Primary hematopoietic stem cells	blood
2	chr16:79894200-79897400	Weak transcription	GM12878-XiMat	blood
3	chr16:79894600-79896600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr16:79894600-79896600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr16:79894600-79896600	Weak transcription	Fetal Thymus	thymus
6	chr16:79896400-79899600	Enhancers	Primary hematopoietic stem cells	blood
7	chr16:79896600-79897800	Enhancers	Liver	Liver
8	chr16:79896600-79898000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr16:79896600-79899200	Enhancers	Fetal Thymus	thymus
10	chr16:79896600-79899600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr16:79896800-79897800	Enhancers	K562	blood
12	chr16:79897000-79899200	Enhancers	Dnd41	blood
13	chr16:79897200-79899000	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr16:79897200-79899200	Enhancers	Primary T cells from cord blood	blood
15	chr16:79897200-79899400	Enhancers	Thymus	Thymus
16	chr16:79897400-79897600	Enhancers	GM12878-XiMat	blood
17	chr16:79897800-79898400	Flanking Active TSS	K562	blood
18	chr16:79898000-79898200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr16:79898200-79898400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr16:79898400-79898600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr16:79898400-79898800	Enhancers	K562	blood
22	chr16:79898600-79899600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr16:79898800-79899000	Flanking Active TSS	K562	blood
24	chr16:79898800-79899200	Enhancers	Right Atrium	heart
25	chr16:79899000-79900200	Enhancers	K562	blood
26	chr16:79900200-79900800	Weak transcription	K562	blood
27	chr16:79900800-79903000	ZNF genes & repeats	K562	blood
28	chr16:79901400-79901600	Enhancers	Thymus	Thymus
29	chr16:79903000-79903200	Enhancers	K562	blood
30	chr16:79903200-79903600	Flanking Active TSS	K562	blood
31	chr16:79903600-79903800	Active TSS	K562	blood
32	chr16:79903800-79904000	Flanking Active TSS	K562	blood
33	chr16:79904000-79904400	Transcr. at gene 5' and 3'	K562	blood
34	chr16:79904200-79904800	Active TSS	Spleen	Spleen
35	chr16:79904400-79905200	ZNF genes & repeats	K562	blood
36	chr16:79904800-79911200	Weak transcription	Spleen	Spleen
37	chr16:79905200-79906000	Enhancers	Brain Germinal Matrix	brain
38	chr16:79905200-79908000	Weak transcription	K562	blood
39	chr16:79907400-79909200	Enhancers	Duodenum Mucosa	Duodenum
40	chr16:79907600-79908800	Enhancers	NHEK	skin
41	chr16:79908000-79908800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr16:79908000-79910800	Enhancers	K562	blood
43	chr16:79908200-79908600	Enhancers	Liver	Liver
44	chr16:79908200-79908600	Enhancers	Fetal Muscle Trunk	muscle
45	chr16:79908200-79908600	Enhancers	Fetal Muscle Leg	muscle
46	chr16:79908200-79908600	Enhancers	Fetal Stomach	stomach
47	chr16:79908200-79908800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr16:79908200-79908800	Enhancers	HMEC	breast
49	chr16:79908200-79909000	Enhancers	Small Intestine	intestine
50	chr16:79908400-79908600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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