Variant report

Variant	esv2751614
Chromosome Location	chr16:80459551-80511649
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:34)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:34 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:80508458..80510369-chr16:80517699..80519850,2	MCF-7	breast:
2	chr16:80469396..80471000-chr16:80474458..80476737,2	MCF-7	breast:
3	chr16:80496269..80498970-chr16:80500227..80504531,3	K562	blood:
4	chr16:79801259..79803185-chr16:80498981..80501432,2	MCF-7	breast:
5	chr16:80496396..80498221-chr16:80498278..80499939,2	MCF-7	breast:
6	chr16:78958645..78959367-chr16:80500008..80500879,3	MCF-7	breast:
7	chr16:80477232..80480135-chr16:80480293..80481825,2	MCF-7	breast:
8	chr16:80456261..80457828-chr16:80462045..80464017,2	K562	blood:
9	chr16:80476917..80477759-chr16:80499915..80500481,2	MCF-7	breast:
10	chr16:80477232..80480135-chr16:80480293..80481825,2	MCF-7	breast:
11	chr16:80496269..80498970-chr16:80500227..80504531,3	K562	blood:
12	chr16:80311039..80311733-chr16:80500002..80500951,2	K562	blood:
13	chr16:80214585..80217507-chr16:80501983..80504669,2	K562	blood:
14	chr16:80467020..80469434-chr16:80558552..80560756,2	K562	blood:
15	chr16:80496396..80498221-chr16:80498278..80499939,2	MCF-7	breast:
16	chr16:80496333..80498714-chr16:80516089..80518670,2	K562	blood:
17	chr16:80453914..80455778-chr16:80465927..80468447,2	MCF-7	breast:
18	chr16:80485440..80487678-chr16:80510230..80512857,2	MCF-7	breast:
19	chr16:80499995..80500569-chr16:80982485..80983045,2	MCF-7	breast:
20	chr16:80030961..80031815-chr16:80499963..80500752,4	MCF-7	breast:
21	chr16:80469396..80471000-chr16:80474458..80476737,2	MCF-7	breast:
22	chr16:80310620..80311639-chr16:80499983..80500837,3	MCF-7	breast:
23	chr16:80477484..80480232-chr16:80487404..80489866,2	K562	blood:
24	chr16:80464231..80466883-chr16:80470014..80471728,2	K562	blood:
25	chr16:80495879..80497942-chr16:80499156..80500860,2	MCF-7	breast:
26	chr16:80455099..80456969-chr16:80460045..80462962,2	MCF-7	breast:
27	chr16:80118484..80119338-chr16:80499839..80500773,2	MCF-7	breast:
28	chr16:80476917..80477759-chr16:80499915..80500481,2	MCF-7	breast:
29	chr16:78537073..78538321-chr16:80500168..80500870,3	MCF-7	breast:
30	chr16:79635755..79636630-chr16:80499976..80500798,3	MCF-7	breast:
31	chr16:80477484..80480232-chr16:80487404..80489866,2	K562	blood:
32	chr16:80464231..80466883-chr16:80470014..80471728,2	K562	blood:
33	chr16:80495879..80497942-chr16:80499156..80500860,2	MCF-7	breast:
34	chr16:80485440..80487678-chr16:80510230..80512857,2	MCF-7	breast:

No data

Extended variants
information (count: 1966 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:1966 , 50 per page) page: 1 2 3 4 5 6 7 ... 40

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs16953285	chr16:80459551-80459552	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs78686660	chr16:80459598-80459599	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs578086703	chr16:80459609-80459610	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs181669610	chr16:80459632-80459633	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs553806193	chr16:80459638-80459639	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs76621071	chr16:80459640-80459641	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs572120164	chr16:80459646-80459647	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs560942852	chr16:80459649-80459650	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs542653665	chr16:80459655-80459656	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs560943755	chr16:80459667-80459668	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs35414027	chr16:80459697-80459698	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs529216115	chr16:80459730-80459731	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs544163597	chr16:80459795-80459796	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs185947956	chr16:80459804-80459805	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs62050397	chr16:80459805-80459806	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs150215354	chr16:80459810-80459811	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs566532304	chr16:80459815-80459816	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs545929095	chr16:80459826-80459827	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs16953288	chr16:80459899-80459900	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs549043854	chr16:80459903-80459904	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs138848766	chr16:80459915-80459916	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs190563972	chr16:80459952-80459953	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs142586956	chr16:80459978-80459979	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs571817430	chr16:80459979-80459980	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs538810099	chr16:80459998-80459999	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs16953291	chr16:80460001-80460002	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs572253466	chr16:80460010-80460011	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs142614592	chr16:80460035-80460036	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs181359471	chr16:80460044-80460045	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs8047032	chr16:80460047-80460048	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs375279426	chr16:80460058-80460059	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs200664528	chr16:80460063-80460064	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs144730524	chr16:80460101-80460102	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs562593596	chr16:80460127-80460128	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs533161772	chr16:80460143-80460144	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs201671545	chr16:80460168-80460169	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs545261396	chr16:80460190-80460191	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs560382722	chr16:80460196-80460197	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs138765725	chr16:80460197-80460198	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs149322308	chr16:80460215-80460216	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs377499696	chr16:80460219-80460220	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs80148939	chr16:80460239-80460240	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs531163200	chr16:80460294-80460295	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs550461813	chr16:80460306-80460307	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs144465481	chr16:80460307-80460308	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs111390138	chr16:80460329-80460330	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs371287078	chr16:80460336-80460337	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs547613891	chr16:80460341-80460342	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs565919913	chr16:80460345-80460346	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs186330346	chr16:80460349-80460350	Weak transcription Enhancers	n/a	n/a	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
Myelofibrosis	22110671	CNVD
Adrenocortical carcinoma	18281524	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Autism	21865298	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-small cell lung cancer	21829676	CNVD

Chromatin state (count:205 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:80457600-80460600	Weak transcription	Fetal Brain Female	brain
2	chr16:80459400-80460800	Enhancers	HepG2	liver
3	chr16:80460400-80461000	Enhancers	Fetal Kidney	kidney
4	chr16:80460600-80462800	Enhancers	Fetal Brain Male	brain
5	chr16:80460600-80462800	Enhancers	Fetal Brain Female	brain
6	chr16:80461000-80464600	Weak transcription	Fetal Kidney	kidney
7	chr16:80467000-80468400	Enhancers	HMEC	breast
8	chr16:80467200-80468400	Enhancers	NHEK	skin
9	chr16:80467400-80468200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr16:80467400-80468200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr16:80467400-80468200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr16:80467400-80468200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr16:80467400-80468400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr16:80468200-80471000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr16:80470400-80470600	Weak transcription	Fetal Kidney	kidney
16	chr16:80470600-80470800	Enhancers	Fetal Kidney	kidney
17	chr16:80470800-80476400	Weak transcription	Fetal Kidney	kidney
18	chr16:80471000-80471400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr16:80471400-80471600	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr16:80474200-80474400	Enhancers	Liver	Liver
21	chr16:80474200-80474800	Enhancers	Duodenum Mucosa	Duodenum
22	chr16:80474400-80474800	Flanking Active TSS	Liver	Liver
23	chr16:80474600-80475000	Active TSS	Duodenum Smooth Muscle	Duodenum
24	chr16:80474800-80475000	Active TSS	Liver	Liver
25	chr16:80475800-80476400	Enhancers	Fetal Intestine Small	intestine
26	chr16:80476200-80478200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr16:80476400-80477000	Enhancers	Fetal Kidney	kidney
28	chr16:80476600-80477000	Enhancers	Fetal Lung	lung
29	chr16:80477000-80481200	Weak transcription	Fetal Lung	lung
30	chr16:80478200-80481200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr16:80481200-80481800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr16:80481200-80482000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr16:80481200-80482000	Enhancers	Fetal Muscle Leg	muscle
34	chr16:80481200-80482200	Enhancers	Fetal Lung	lung
35	chr16:80482200-80482600	Weak transcription	Fetal Lung	lung
36	chr16:80482600-80484000	Enhancers	Fetal Lung	lung
37	chr16:80483600-80483800	Bivalent/Poised TSS	Fetal Brain Male	brain
38	chr16:80483800-80484000	Enhancers	Fetal Intestine Small	intestine
39	chr16:80483800-80484400	Enhancers	Duodenum Mucosa	Duodenum
40	chr16:80484600-80484800	Enhancers	Fetal Intestine Small	intestine
41	chr16:80489000-80489200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr16:80490600-80492600	Enhancers	Fetal Intestine Small	intestine
43	chr16:80491000-80492800	Enhancers	Fetal Intestine Large	intestine
44	chr16:80491200-80491400	Enhancers	Right Atrium	heart
45	chr16:80491400-80494000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr16:80491400-80494000	Weak transcription	Right Atrium	heart
47	chr16:80492400-80502600	Enhancers	Liver	Liver
48	chr16:80492600-80494200	Enhancers	Fetal Muscle Leg	muscle
49	chr16:80492600-80494600	Enhancers	Osteobl	bone
50	chr16:80492600-80495800	Weak transcription	Fetal Intestine Small	intestine

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