Variant report

Variant	esv2761380
Chromosome Location	chr7:146707059-146788225
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:7)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:146761282..146763181-chr7:146763573..146765951,2	K562	blood:
2	chr7:146728137..146729642-chr7:146730753..146732443,2	K562	blood:
3	chr7:146715781..146717659-chr7:146720196..146724156,3	K562	blood:
4	chr7:146771218..146771738-chrX:153626554..153627086,2	Hela-S3	cervix:
5	chr7:146715781..146717659-chr7:146720196..146724156,3	K562	blood:
6	chr7:146761282..146763181-chr7:146763573..146765951,2	K562	blood:
7	chr7:146728137..146729642-chr7:146730753..146732443,2	K562	blood:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-EZH2-4	chr7:146778026-146779180	ENSG00000236795.1
2	lnc-EZH2-4	chr7:146779632-146780313	ENSG00000236795.1
3	lnc-EZH2-4	chr7:146782785-146782914	ENSG00000236795.1

No data

Variant related genes	Relation type
ENSG00000147403	chromatin interactions

Extended variants
information (count: 1860 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:1860 , 50 per page) page: 1 2 3 4 5 6 7 ... 38

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs182036547	chr7:146709247-146709248	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs577740211	chr7:146709252-146709253	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs576913971	chr7:146709253-146709254	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs371785635	chr7:146709287-146709288	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs150869291	chr7:146709330-146709331	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs111421865	chr7:146709333-146709334	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs574123692	chr7:146709336-146709337	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs370355164	chr7:146709337-146709338	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs111577384	chr7:146709343-146709344	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs543021316	chr7:146709347-146709348	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs386719042	chr7:146709357-146709358	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs553538543	chr7:146709385-146709386	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs142042664	chr7:146709400-146709401	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs12669124	chr7:146709413-146709414	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs35477378	chr7:146709441-146709442	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs369403502	chr7:146709464-146709465	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs574728447	chr7:146709504-146709505	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs545455105	chr7:146709527-146709528	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs565339164	chr7:146709554-146709555	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs190732754	chr7:146709615-146709616	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs544542770	chr7:146709629-146709630	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs2109306	chr7:146709642-146709643	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs376488084	chr7:146709715-146709716	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs79121317	chr7:146709744-146709745	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs182923165	chr7:146709755-146709756	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs187204502	chr7:146709790-146709791	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs147766845	chr7:146709808-146709809	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs139795232	chr7:146709814-146709815	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs551411163	chr7:146709863-146709864	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs372557957	chr7:146709865-146709866	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs574738840	chr7:146709891-146709892	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs571363678	chr7:146709898-146709899	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs537241399	chr7:146709925-146709926	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs557320529	chr7:146709960-146709961	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs542346286	chr7:146709974-146709975	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs536515269	chr7:146709982-146709983	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs36083618	chr7:146710003-146710004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs553424106	chr7:146710024-146710025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs573142329	chr7:146710065-146710066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs545178345	chr7:146710089-146710090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs572599632	chr7:146710120-146710121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs190994172	chr7:146710130-146710131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs73465267	chr7:146710176-146710177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs145293747	chr7:146710350-146710351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs183266449	chr7:146710352-146710353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs187746763	chr7:146710403-146710404	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs147625077	chr7:146710410-146710411	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs371275335	chr7:146710458-146710459	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs140806015	chr7:146710533-146710534	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs535335388	chr7:146710549-146710550	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:97)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Glioblastoma multiforme	18628472	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Papillary thyroid carcinoma	21436994	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Hodgkin''s lymphoma	18179710	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	16272173	CNVD
Myxofibrosarcoma	16751306	CNVD
Stuttering	21108403	CNVD
Breast cancer	17603634	CNVD
Urothelial carcinoma	18382360	CNVD
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Multiple myeloma	16461302	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	17133270	CNVD
Schizophrenia	17646849	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Lung adenocarcinoma	17086460	CNVD
Gastric adenocarcinoma	19115996	CNVD
Pancreatitis	21956041	CNVD
Acute myeloid leukemia	16864856	CNVD
Gastric cancer	16891809	CNVD
Lung cancer	17086460	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Cancer	20164920	CNVD
Pancreatic cancer	17952125	CNVD
Autism	20808228	CNVD
Schizophrenia	20838587	CNVD
Schizophrenia	20718829	CNVD
Neuropsychiatric disorder	21827697	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21509527	CNVD
Autism	20964600	CNVD
Epilepsy	17646849	CNVD
Mental retardation	19896112	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Bipolar disorder	19114987	CNVD
Cancer	20164919	CNVD

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:146709200-146710000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr7:146710000-146711200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr7:146710400-146712600	Enhancers	Brain Germinal Matrix	brain
4	chr7:146710600-146712400	Enhancers	Fetal Heart	heart
5	chr7:146710600-146712600	Enhancers	Fetal Brain Male	brain
6	chr7:146710800-146711200	Enhancers	Brain Hippocampus Middle	brain
7	chr7:146710800-146712600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr7:146710800-146713000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr7:146711000-146713000	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr7:146711200-146712000	Enhancers	Brain Cingulate Gyrus	brain
11	chr7:146711200-146712400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr7:146712400-146715000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr7:146715000-146715400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr7:146715200-146715600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr7:146719200-146721000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr7:146719200-146721400	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr7:146722200-146722400	Active TSS	HSMM	muscle
18	chr7:146722400-146722600	Flanking Active TSS	HSMM	muscle
19	chr7:146730800-146731600	Enhancers	Fetal Lung	lung
20	chr7:146731000-146731600	Enhancers	Ovary	ovary
21	chr7:146741800-146742800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr7:146742800-146744600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr7:146744800-146745000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr7:146746800-146747000	Enhancers	Fetal Kidney	kidney
25	chr7:146749000-146750400	Enhancers	Fetal Lung	lung
26	chr7:146749400-146749600	Enhancers	Fetal Kidney	kidney
27	chr7:146749600-146750200	Weak transcription	Fetal Kidney	kidney
28	chr7:146750200-146750400	Enhancers	Fetal Kidney	kidney
29	chr7:146750400-146753400	Weak transcription	Fetal Lung	lung
30	chr7:146751000-146751400	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr7:146751000-146751400	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr7:146751000-146751400	Enhancers	iPS-20b Cell Line	embryonic stem cell
33	chr7:146752600-146752800	Enhancers	Gastric	stomach
34	chr7:146753400-146753600	Enhancers	Fetal Lung	lung
35	chr7:146753600-146754200	Weak transcription	Fetal Lung	lung
36	chr7:146754200-146755200	Enhancers	Fetal Lung	lung
37	chr7:146754600-146755000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr7:146756800-146757800	Enhancers	Primary hematopoietic stem cells short term culture	blood
39	chr7:146757000-146757400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr7:146757800-146758200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr7:146758200-146758400	Enhancers	Primary hematopoietic stem cells short term culture	blood
42	chr7:146758400-146760200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
43	chr7:146759600-146760200	Enhancers	Primary monocytes fromperipheralblood	blood
44	chr7:146760200-146760400	Enhancers	Primary hematopoietic stem cells short term culture	blood
45	chr7:146765800-146766200	Enhancers	Fetal Heart	heart
46	chr7:146767000-146767400	Enhancers	Pancreatic Islets	Pancreatic Islet
47	chr7:146767400-146768000	Enhancers	Fetal Lung	lung
48	chr7:146767400-146768800	Weak transcription	Pancreatic Islets	Pancreatic Islet
49	chr7:146767800-146769600	Enhancers	Fetal Kidney	kidney
50	chr7:146768800-146769000	Enhancers	Pancreatic Islets	Pancreatic Islet

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