Variant report

Variant	esv14380
Chromosome Location	chr16:70650573-70660117
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 630 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:630 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559062942	chr16:70650573-70650574	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs577170344	chr16:70650624-70650625	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs564475357	chr16:70650712-70650713	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs544589088	chr16:70650786-70650787	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs563472568	chr16:70650788-70650789	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs533267659	chr16:70650827-70650828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs112177036	chr16:70650874-70650875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs560770783	chr16:70650896-70650897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs528235586	chr16:70650953-70650954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs546298192	chr16:70650954-70650955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs149359676	chr16:70650978-70650979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs534504650	chr16:70651080-70651081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs192385837	chr16:70651098-70651099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs185529526	chr16:70651121-70651122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs372706534	chr16:70651133-70651134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs548105360	chr16:70651256-70651257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs112894201	chr16:70651289-70651290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs140775781	chr16:70651326-70651327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs111916425	chr16:70651342-70651343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs201765165	chr16:70651358-70651359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs534351643	chr16:70651386-70651387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs559138682	chr16:70651484-70651485	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs556435117	chr16:70651486-70651487	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs577256875	chr16:70651497-70651498	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs565047192	chr16:70651500-70651501	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs537883808	chr16:70651504-70651505	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs529456354	chr16:70651606-70651607	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs556496866	chr16:70651648-70651649	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs574713912	chr16:70651665-70651666	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs542528626	chr16:70651669-70651670	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs554400875	chr16:70651700-70651701	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs12598752	chr16:70651727-70651728	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs540036801	chr16:70651731-70651732	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs564871826	chr16:70651885-70651886	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs532219164	chr16:70651922-70651923	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs537318191	chr16:70651936-70651937	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs548142095	chr16:70652008-70652009	Weak transcription Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
38	rs543895214	chr16:70652051-70652052	Weak transcription Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
39	rs562527353	chr16:70652053-70652054	Weak transcription Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
40	rs529680800	chr16:70652064-70652065	Weak transcription Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
41	rs148539116	chr16:70652072-70652073	Weak transcription Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
42	rs567165625	chr16:70652082-70652083	Weak transcription Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
43	rs527926918	chr16:70652085-70652086	Weak transcription Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
44	rs60020150	chr16:70652107-70652108	Weak transcription Active TSS Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs111371510	chr16:70652114-70652115	Weak transcription Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
46	rs12923599	chr16:70652126-70652127	Weak transcription Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
47	rs12924709	chr16:70652127-70652128	Weak transcription Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
48	rs190403073	chr16:70652134-70652135	Weak transcription Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
49	rs111996543	chr16:70652161-70652162	Weak transcription Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
50	rs556704416	chr16:70652178-70652179	Weak transcription Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

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
small cell lung cancer	20016488	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Hepatocellular carcinoma	16750200	CNVD
Medulloblastoma	16783165	CNVD
Neuroblastoma	21899760	CNVD
Bladder cancer	21909424	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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	21509527	CNVD
Melanoma	22183965	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Autism	21865298	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Recurrent pregnancy loss	19789632	CNVD

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:70645200-70653400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr16:70645400-70655000	Weak transcription	Placenta	Placenta
3	chr16:70647400-70669200	Weak transcription	Right Atrium	heart
4	chr16:70647800-70664800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr16:70648200-70650600	Strong transcription	HUES64 Cell Line	embryonic stem cell
6	chr16:70648400-70650800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
7	chr16:70648800-70654600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr16:70649000-70652600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr16:70650200-70650600	Genic enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr16:70650200-70650800	Strong transcription	H9 Cell Line	embryonic stem cell
11	chr16:70650200-70650800	Strong transcription	HUES6 Cell Line	embryonic stem cell
12	chr16:70650200-70652800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr16:70650200-70653200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr16:70650400-70650600	Strong transcription	HUES48 Cell Line	embryonic stem cell
15	chr16:70650400-70652400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr16:70650400-70652600	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr16:70650400-70652800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr16:70650600-70652200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr16:70650600-70652400	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr16:70650600-70652400	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr16:70650800-70651400	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr16:70650800-70652000	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr16:70650800-70652800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr16:70651400-70652000	Active TSS	HUES6 Cell Line	embryonic stem cell
25	chr16:70652000-70652400	Active TSS	H9 Cell Line	embryonic stem cell
26	chr16:70652000-70653000	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
27	chr16:70652200-70652600	Active TSS	iPS-15b Cell Line	embryonic stem cell
28	chr16:70652400-70652600	Active TSS	HUES48 Cell Line	embryonic stem cell
29	chr16:70652400-70652600	Active TSS	HUES64 Cell Line	embryonic stem cell
30	chr16:70652400-70653000	Transcr. at gene 5' and 3'	H9 Cell Line	embryonic stem cell
31	chr16:70652400-70656800	Active TSS	ES-I3 Cell Line	embryonic stem cell
32	chr16:70652600-70652800	Flanking Active TSS	H1 Cell Line	embryonic stem cell
33	chr16:70652600-70653000	Transcr. at gene 5' and 3'	HUES64 Cell Line	embryonic stem cell
34	chr16:70652600-70653200	Transcr. at gene 5' and 3'	HUES48 Cell Line	embryonic stem cell
35	chr16:70652600-70653400	Transcr. at gene 5' and 3'	iPS-15b Cell Line	embryonic stem cell
36	chr16:70652600-70655400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
37	chr16:70652800-70654600	Active TSS	iPS-20b Cell Line	embryonic stem cell
38	chr16:70652800-70655600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr16:70652800-70656000	Active TSS	H1 Cell Line	embryonic stem cell
40	chr16:70652800-70656000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr16:70653000-70654400	Active TSS	HUES6 Cell Line	embryonic stem cell
42	chr16:70653000-70654600	Active TSS	HUES64 Cell Line	embryonic stem cell
43	chr16:70653000-70655800	Active TSS	H9 Cell Line	embryonic stem cell
44	chr16:70653200-70654600	Active TSS	iPS-18 Cell Line	embryonic stem cell
45	chr16:70653200-70656000	Active TSS	HUES48 Cell Line	embryonic stem cell
46	chr16:70653400-70653600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr16:70653400-70656000	Active TSS	iPS-15b Cell Line	embryonic stem cell
48	chr16:70653600-70653800	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr16:70653800-70656000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr16:70654200-70654400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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