Variant report

Variant	esv15766
Chromosome Location	chr16:81238675-81240848
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:81238472..81239333-chr16:81771352..81772219,3	MCF-7	breast:
2	chr16:81238408..81239122-chr16:81294572..81295294,2	K562	blood:
3	chr16:81238393..81239236-chr16:81383637..81384525,3	MCF-7	breast:
4	chr12:108895394..108895894-chr16:81238428..81239017,2	MCF-7	breast:
5	chr16:81232049..81234951-chr16:81236497..81238711,3	MCF-7	breast:
6	chr16:81129494..81132038-chr16:81235972..81238926,2	MCF-7	breast:
7	chr12:127828951..127829931-chr16:81238548..81239098,2	MCF-7	breast:
8	chr16:81238218..81239252-chr16:81247860..81248811,3	MCF-7	breast:
9	chr16:81238415..81238961-chr16:81294445..81295011,2	MCF-7	breast:
10	chr16:81237375..81239298-chr16:81246693..81248653,2	K562	blood:
11	chr16:81069222..81069838-chr16:81238638..81239329,2	MCF-7	breast:
12	chr16:81110861..81112388-chr16:81235998..81238926,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000166455	chromatin interactions
ENSG00000245059	chromatin interactions
ENSG00000260213	chromatin interactions
ENSG00000261218	chromatin interactions
ENSG00000140905	chromatin interactions
ENSG00000166473	chromatin interactions
ENSG00000166454	chromatin interactions

Extended variants
information (count: 176 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:176 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs550435633	chr16:81238676-81238677	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
2	rs7192688	chr16:81238690-81238691	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs568943763	chr16:81238701-81238702	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
4	rs539128795	chr16:81238734-81238735	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
5	rs75422935	chr16:81238735-81238736	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
6	rs141282472	chr16:81238739-81238740	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
7	rs7194222	chr16:81238750-81238751	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs534118239	chr16:81238751-81238752	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
9	rs112551449	chr16:81238775-81238776	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
10	rs139586047	chr16:81238777-81238778	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
11	rs7192873	chr16:81238789-81238790	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs7199804	chr16:81238795-81238796	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs191922669	chr16:81238812-81238813	Enhancers Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
14	rs7194394	chr16:81238818-81238819	Enhancers Weak transcription	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs55768607	chr16:81238839-81238840	Enhancers Weak transcription	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs7194418	chr16:81238854-81238855	Enhancers Weak transcription	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs557640238	chr16:81238866-81238867	Enhancers Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
18	rs7194428	chr16:81238872-81238873	Enhancers Weak transcription	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs368604137	chr16:81238876-81238877	Enhancers Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
20	rs7194443	chr16:81238889-81238890	Enhancers Weak transcription	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs553576264	chr16:81238895-81238896	Enhancers Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
22	rs577820468	chr16:81238902-81238903	Enhancers Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
23	rs529505233	chr16:81238941-81238942	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs113200014	chr16:81238954-81238955	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs550568492	chr16:81238964-81238965	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs138874918	chr16:81238974-81238975	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs72831338	chr16:81238987-81238988	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs145010535	chr16:81239006-81239007	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs7200341	chr16:81239016-81239017	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs566715895	chr16:81239060-81239061	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs533975363	chr16:81239077-81239078	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs560665017	chr16:81239081-81239082	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs111289817	chr16:81239104-81239105	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs532333229	chr16:81239108-81239109	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs530768637	chr16:81239145-81239146	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs147566179	chr16:81239148-81239149	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs12928568	chr16:81239167-81239168	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs187013345	chr16:81239173-81239174	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs72831339	chr16:81239193-81239194	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs140993342	chr16:81239209-81239210	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs60229201	chr16:81239236-81239237	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs572953209	chr16:81239243-81239244	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs76632473	chr16:81239244-81239245	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs112947827	chr16:81239247-81239248	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs145887090	chr16:81239265-81239266	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs574017916	chr16:81239278-81239279	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs191401872	chr16:81239285-81239286	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs371287532	chr16:81239289-81239290	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs72831340	chr16:81239322-81239323	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs545138016	chr16:81239323-81239324	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Autism	21865298	CNVD
Myelofibrosis	22110671	CNVD
Non-small cell lung cancer	21829676	CNVD
Neuroblastoma	18923524	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Obesity	20622171	CNVD
Cancer	20164920	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81215000-81254600	Weak transcription	Right Atrium	heart
2	chr16:81238400-81239000	Enhancers	Liver	Liver
3	chr16:81238400-81239200	Enhancers	Brain Anterior Caudate	brain
4	chr16:81238400-81239200	Enhancers	Brain Cingulate Gyrus	brain
5	chr16:81238400-81239200	Enhancers	Brain Inferior Temporal Lobe	brain
6	chr16:81238400-81239200	Enhancers	Brain Substantia Nigra	brain
7	chr16:81238600-81238800	Flanking Active TSS	Colon Smooth Muscle	Colon
8	chr16:81238600-81239200	Enhancers	Adipose Nuclei	Adipose
9	chr16:81238600-81239200	Enhancers	Brain Angular Gyrus	brain
10	chr16:81238600-81239200	Enhancers	Rectal Smooth Muscle	rectum
11	chr16:81238600-81239400	Enhancers	Brain Hippocampus Middle	brain
12	chr16:81238800-81239400	Enhancers	Colon Smooth Muscle	Colon
13	chr16:81240600-81241200	Enhancers	Fetal Lung	lung
14	chr16:81240800-81241000	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung

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