Variant report

Variant	esv3374261
Chromosome Location	chr16:81710051-81715149
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:81704516..81707348-chr16:81709106..81710744,2	MCF-7	breast:
2	chr16:81695255..81697707-chr16:81713897..81716824,2	MCF-7	breast:
3	chr16:81714581..81716604-chr16:81718117..81720383,2	K562	blood:
4	chr16:81713510..81715254-chr16:81720788..81723045,2	K562	blood:
5	chr16:81703842..81705571-chr16:81710332..81712926,2	MCF-7	breast:
6	chr16:81709931..81712989-chr16:81713808..81717096,4	K562	blood:
7	chr16:81685696..81687477-chr16:81708078..81711074,2	K562	blood:
8	chr16:81704952..81707703-chr16:81710502..81713638,3	K562	blood:
9	chr16:81701008..81703495-chr16:81711317..81713346,2	MCF-7	breast:
10	chr16:81617511..81619449-chr16:81710211..81712244,2	K562	blood:
11	chr16:81709931..81712989-chr16:81713808..81717096,4	K562	blood:

No data

Extended variants
information (count: 258 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:258 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546684695	chr16:81710063-81710064	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs189099428	chr16:81710073-81710074	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs181550346	chr16:81710110-81710111	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs374516535	chr16:81710119-81710120	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs77312179	chr16:81710177-81710178	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs138115271	chr16:81710240-81710241	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs550090001	chr16:81710247-81710248	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs149565022	chr16:81710259-81710260	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs186780226	chr16:81710326-81710327	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs144582095	chr16:81710334-81710335	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs560200293	chr16:81710346-81710347	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs551730476	chr16:81710352-81710353	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs567054100	chr16:81710402-81710403	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs116973183	chr16:81710430-81710431	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs529110467	chr16:81710459-81710460	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs189610956	chr16:81710512-81710513	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs181163306	chr16:81710571-81710572	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs537863683	chr16:81710580-81710581	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs556079123	chr16:81710604-81710605	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs542414439	chr16:81710637-81710638	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs577868628	chr16:81710643-81710644	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs545278825	chr16:81710645-81710646	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs553730233	chr16:81710710-81710711	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs186054050	chr16:81710721-81710722	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs370081913	chr16:81710722-81710723	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs561860628	chr16:81710748-81710749	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs115339423	chr16:81710749-81710750	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs116298956	chr16:81710812-81710813	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs148065775	chr16:81710846-81710847	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs533505171	chr16:81710849-81710850	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs562390489	chr16:81710855-81710856	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs552030825	chr16:81710928-81710929	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs567105432	chr16:81710929-81710930	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs527904475	chr16:81710979-81710980	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs549572188	chr16:81710981-81710982	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs9972695	chr16:81710983-81710984	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs34305727	chr16:81710987-81710988	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs370889764	chr16:81711079-81711080	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs555926946	chr16:81711095-81711096	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs571217886	chr16:81711096-81711097	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs143759207	chr16:81711140-81711141	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs554017048	chr16:81711158-81711159	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs571973902	chr16:81711159-81711160	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs551216602	chr16:81711185-81711186	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs147188903	chr16:81711186-81711187	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs190956857	chr16:81711215-81711216	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs573802092	chr16:81711230-81711231	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs140550181	chr16:81711231-81711232	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs8055386	chr16:81711245-81711246	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs114866903	chr16:81711283-81711284	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	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
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
Ovarian clear cell carcinoma	21343371	CNVD
Autism	21865298	CNVD
Myelofibrosis	22110671	CNVD
Non-small cell lung cancer	21829676	CNVD
Obesity	20622171	CNVD
Cancer	20164920	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16461572	CNVD

Chromatin state (count:329 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81682400-81722400	Strong transcription	Monocytes-CD14+_RO01746	blood
2	chr16:81683600-81715600	Strong transcription	Primary T cells from cord blood	blood
3	chr16:81683800-81721800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr16:81684400-81722200	Strong transcription	Primary monocytes fromperipheralblood	blood
5	chr16:81684400-81722200	Strong transcription	Primary neutrophils fromperipheralblood	blood
6	chr16:81686600-81715400	Strong transcription	Placenta	Placenta
7	chr16:81686600-81721600	Weak transcription	NH-A	brain
8	chr16:81686600-81725000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr16:81688400-81736800	Weak transcription	NHDF-Ad	bronchial
10	chr16:81689400-81713800	Weak transcription	Right Atrium	heart
11	chr16:81689800-81722200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
12	chr16:81689800-81722400	Strong transcription	Fetal Intestine Large	intestine
13	chr16:81690600-81711000	Strong transcription	Adipose Nuclei	Adipose
14	chr16:81691200-81710400	Strong transcription	Sigmoid Colon	Sigmoid Colon
15	chr16:81691200-81721200	Strong transcription	Liver	Liver
16	chr16:81693400-81712800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr16:81695200-81712000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr16:81695200-81717000	Strong transcription	NHEK	skin
19	chr16:81695400-81712400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr16:81696000-81712200	Weak transcription	NHLF	lung
21	chr16:81696200-81710800	Weak transcription	Small Intestine	intestine
22	chr16:81696200-81712400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr16:81697400-81712400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr16:81698800-81721400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr16:81699200-81725600	Weak transcription	Osteobl	bone
26	chr16:81699400-81715400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr16:81699400-81726000	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr16:81699800-81712400	Strong transcription	Duodenum Mucosa	Duodenum
29	chr16:81701000-81725200	Weak transcription	Aorta	Aorta
30	chr16:81701200-81722200	Strong transcription	Fetal Intestine Small	intestine
31	chr16:81702000-81714600	Strong transcription	Rectal Mucosa Donor 29	rectum
32	chr16:81702000-81715400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr16:81702200-81721800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr16:81702200-81722200	Strong transcription	HepG2	liver
35	chr16:81702600-81721600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr16:81703200-81722200	Strong transcription	Primary B cells from peripheral blood	blood
37	chr16:81703400-81715800	Strong transcription	Primary T helper cells fromperipheralblood	blood
38	chr16:81703400-81719000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr16:81703600-81712200	Strong transcription	Primary T cells fromperipheralblood	blood
40	chr16:81703600-81716000	Strong transcription	Primary B cells from cord blood	blood
41	chr16:81703800-81717000	Strong transcription	Fetal Thymus	thymus
42	chr16:81703800-81717200	Strong transcription	Thymus	Thymus
43	chr16:81704000-81711000	Weak transcription	HUVEC	blood vessel
44	chr16:81704000-81711200	Weak transcription	Stomach Mucosa	stomach
45	chr16:81704200-81724600	Weak transcription	Hela-S3	cervix
46	chr16:81705400-81712600	Strong transcription	A549	lung
47	chr16:81705600-81712400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
48	chr16:81706000-81712400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr16:81706000-81713600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr16:81706200-81711000	Weak transcription	H9 Cell Line	embryonic stem cell

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