Variant report

Variant	esv3373759
Chromosome Location	chr16:71286451-71288599
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:71288537..71290996-chr16:71299715..71301664,2	MCF-7	breast:
2	chr16:71284904..71287123-chr16:71289658..71291171,2	MCF-7	breast:
3	chr16:71287182..71289773-chr16:71380797..71383659,2	MCF-7	breast:

Extended variants
information (count: 116 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:116 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs144742785	chr16:71286492-71286493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs529408653	chr16:71286510-71286511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs370580078	chr16:71286521-71286522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs577692416	chr16:71286577-71286578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs371213129	chr16:71286580-71286581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs35918934	chr16:71286583-71286584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs74025928	chr16:71286620-71286621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs539929006	chr16:71286642-71286643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs558275890	chr16:71286651-71286652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs576460306	chr16:71286653-71286654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs543953254	chr16:71286658-71286659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs1002252	chr16:71286676-71286677	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs573969325	chr16:71286679-71286680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs541355630	chr16:71286680-71286681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs372635032	chr16:71286688-71286689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs532804580	chr16:71286729-71286730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs551185777	chr16:71286773-71286774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs141300729	chr16:71286778-71286779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs150389440	chr16:71286785-71286786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs549133111	chr16:71286790-71286791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs533037814	chr16:71286838-71286839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs1002251	chr16:71286861-71286862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs528378739	chr16:71286960-71286961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs187109504	chr16:71286988-71286989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs566074799	chr16:71286991-71286992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs539771741	chr16:71287061-71287062	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs557875004	chr16:71287152-71287153	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs570099415	chr16:71287207-71287208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs537172540	chr16:71287214-71287215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs191083259	chr16:71287258-71287259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs373020798	chr16:71287260-71287261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs112793010	chr16:71287340-71287341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs5026156	chr16:71287341-71287342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs369084287	chr16:71287346-71287347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs71384772	chr16:71287347-71287348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs812398	chr16:71287348-71287349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs71384773	chr16:71287349-71287350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs71384774	chr16:71287351-71287352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs373285768	chr16:71287359-71287360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs375390176	chr16:71287367-71287368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs5026158	chr16:71287369-71287370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs369740267	chr16:71287370-71287371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs12924837	chr16:71287376-71287377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs12924960	chr16:71287381-71287382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs12925207	chr16:71287387-71287388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs5026159	chr16:71287389-71287390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs373148833	chr16:71287408-71287409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs376383661	chr16:71287409-71287410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs4318211	chr16:71287410-71287411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs373544246	chr16:71287415-71287416	Weak transcription	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
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Prostate cancer	16573809	CNVD
Chordoma	18071362	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 myeloid leukemia	16864856	CNVD
Infiltrating lobular breast cancer	19191266	CNVD
T-cell lymphomas	19863542	CNVD
Hepatocellular carcinoma	16750200	CNVD
Medulloblastoma	16783165	CNVD
Neuroblastoma	21899760	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	18628472	CNVD
Breast cancer	21806811	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21509527	CNVD
Melanoma	22183965	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Neuroblastoma	18923524	CNVD
Schizophrenia	23813976	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164919	CNVD

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:71279400-71289000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr16:71279600-71288800	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr16:71283600-71288800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr16:71283800-71288800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr16:71283800-71289000	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr16:71284800-71288600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr16:71285000-71288600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr16:71285000-71289000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr16:71285200-71288400	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr16:71285200-71288600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr16:71285400-71288600	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr16:71285400-71289200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr16:71285600-71288600	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr16:71285600-71288600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr16:71285600-71289200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr16:71285800-71288600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr16:71286200-71288400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr16:71287000-71287200	Enhancers	Brain Germinal Matrix	brain
19	chr16:71287200-71288200	Weak transcription	Brain Germinal Matrix	brain
20	chr16:71287600-71287800	Enhancers	Fetal Muscle Trunk	muscle
21	chr16:71287800-71289000	Weak transcription	Fetal Muscle Trunk	muscle
22	chr16:71288000-71291000	Enhancers	Fetal Muscle Leg	muscle
23	chr16:71288200-71289000	Enhancers	Primary T cells from cord blood	blood
24	chr16:71288200-71290200	Enhancers	Fetal Brain Male	brain
25	chr16:71288200-71290400	Enhancers	Brain Germinal Matrix	brain
26	chr16:71288400-71288800	Enhancers	Monocytes-CD14+_RO01746	blood
27	chr16:71288400-71289600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr16:71288400-71289600	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr16:71288400-71290000	Enhancers	Primary B cells from cord blood	blood
30	chr16:71288400-71290400	Enhancers	Fetal Brain Female	brain

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