Variant report

Variant	esv3426086
Chromosome Location	chr16:82258403-82263911
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:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:81973203..81974111-chr16:82263361..82264340,4	K562	blood:
2	chr16:82263588..82264475-chr17:60186661..60187255,2	MCF-7	breast:
3	chr16:82135638..82136440-chr16:82263371..82264096,2	MCF-7	breast:
4	chr16:82095196..82096036-chr16:82263712..82264246,2	MCF-7	breast:
5	chr16:81974180..81974994-chr16:82263377..82264081,3	MCF-7	breast:
6	chr16:82049544..82050394-chr16:82263299..82263885,2	MCF-7	breast:
7	chr16:82064722..82065718-chr16:82262987..82264266,17	MCF-7	breast:
8	chr16:82064816..82065363-chr16:82261080..82262041,2	MCF-7	breast:
9	chr16:82253625..82256227-chr16:82257466..82259269,2	MCF-7	breast:
10	chr16:81923911..81924649-chr16:82263311..82264070,2	K562	blood:
11	chr16:81974143..81975083-chr16:82263601..82264236,3	K562	blood:
12	chr16:82064738..82065659-chr16:82263372..82264240,11	MCF-7	breast:
13	chr16:82202815..82205147-chr16:82258827..82261790,2	MCF-7	breast:
14	chr16:82255757..82258661-chr16:82260604..82263594,2	K562	blood:
15	chr16:82263616..82264267-chr16:82377230..82378064,2	MCF-7	breast:
16	chr16:82211064..82211822-chr16:82263223..82264188,4	MCF-7	breast:
17	chr16:82065223..82067133-chr16:82262887..82264649,2	MCF-7	breast:
18	chr16:82064756..82065405-chr16:82263533..82264299,2	K562	blood:
19	chr16:82255757..82258661-chr16:82260604..82263594,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000261029	chromatin interactions
ENSG00000135698	chromatin interactions

Extended variants
information (count: 316 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:316 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574467242	chr16:82258405-82258406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs200099780	chr16:82258411-82258412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs201066139	chr16:82258413-82258414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs71689487	chr16:82258414-82258415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs542902005	chr16:82258415-82258416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs71146070	chr16:82258416-82258417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs199709156	chr16:82258417-82258418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs200575516	chr16:82258418-82258419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs555183584	chr16:82258497-82258498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs576674155	chr16:82258505-82258506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs7185760	chr16:82258581-82258582	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs557534830	chr16:82258621-82258622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs148227611	chr16:82258626-82258627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs35540161	chr16:82258634-82258635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs140090266	chr16:82258640-82258641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs559637266	chr16:82258651-82258652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs75629078	chr16:82258669-82258670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs548118732	chr16:82258671-82258672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs185448917	chr16:82258675-82258676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs62046763	chr16:82258705-82258706	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs137914199	chr16:82258730-82258731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs527411483	chr16:82258748-82258749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs58169377	chr16:82258799-82258800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs552932761	chr16:82258834-82258835	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs553720420	chr16:82258868-82258869	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs117766278	chr16:82258874-82258875	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs144051335	chr16:82258875-82258876	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs576711137	chr16:82258902-82258903	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs537601059	chr16:82258933-82258934	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs189307996	chr16:82258951-82258952	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs181966329	chr16:82258986-82258987	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs541095121	chr16:82259002-82259003	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs77155306	chr16:82259017-82259018	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs574707954	chr16:82259026-82259027	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs58370774	chr16:82259051-82259052	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs113390941	chr16:82259137-82259138	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs147331990	chr16:82259194-82259195	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs2932840	chr16:82259199-82259200	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs183580612	chr16:82259206-82259207	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs564273685	chr16:82259249-82259250	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs114119239	chr16:82259301-82259302	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs116479991	chr16:82259309-82259310	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs572122282	chr16:82259325-82259326	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs188220414	chr16:82259334-82259335	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs113780772	chr16:82259337-82259338	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs376221929	chr16:82259341-82259342	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs139210395	chr16:82259378-82259379	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs561977424	chr16:82259387-82259388	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs568963152	chr16:82259392-82259393	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs570026453	chr16:82259430-82259431	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:69)

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
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:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:82254600-82260000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr16:82259200-82259800	Enhancers	Colon Smooth Muscle	Colon
3	chr16:82260000-82260600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr16:82262000-82262200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr16:82262200-82263400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr16:82263000-82263400	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr16:82263200-82263400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr16:82263200-82263400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr16:82263200-82264200	Enhancers	Stomach Mucosa	stomach
10	chr16:82263400-82263800	Enhancers	Duodenum Mucosa	Duodenum
11	chr16:82263400-82263800	Enhancers	Fetal Intestine Small	intestine
12	chr16:82263400-82263800	Enhancers	Placenta	Placenta
13	chr16:82263400-82264200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr16:82263600-82263800	Enhancers	Fetal Kidney	kidney
15	chr16:82263800-82264800	Weak transcription	Duodenum Mucosa	Duodenum
16	chr16:82263800-82265200	Enhancers	Rectal Mucosa Donor 31	rectum
17	chr16:82263800-82265600	Enhancers	Rectal Mucosa Donor 29	rectum

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