Variant report

Variant	esv3426873
Chromosome Location	chr1:191738329-191740477
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 65 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:65 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs375545108	chr1:191738347-191738348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs2785765	chr1:191738357-191738358	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs569612833	chr1:191738362-191738363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs183816729	chr1:191738408-191738409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs555358711	chr1:191738459-191738460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs7417331	chr1:191738494-191738495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs12142870	chr1:191738512-191738513	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs75570510	chr1:191738599-191738600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs12028157	chr1:191738604-191738605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs577955148	chr1:191738610-191738611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs115205985	chr1:191738631-191738632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs143818945	chr1:191738633-191738634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs531846089	chr1:191738740-191738741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs375752018	chr1:191738819-191738820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs151264693	chr1:191738820-191738821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs562117098	chr1:191738829-191738830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs187310360	chr1:191738843-191738844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs12744554	chr1:191738881-191738882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs546793440	chr1:191738912-191738913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs547723818	chr1:191738948-191738949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs570707181	chr1:191738956-191738957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs5779596	chr1:191738977-191738978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs75516487	chr1:191738978-191738979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs397711650	chr1:191738985-191738986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs377385754	chr1:191738986-191738987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs140488813	chr1:191739000-191739001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs549450767	chr1:191739030-191739031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs833978	chr1:191739082-191739083	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs12093952	chr1:191739121-191739122	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs550510001	chr1:191739128-191739129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs558976032	chr1:191739213-191739214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs192615131	chr1:191739220-191739221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs565682840	chr1:191739265-191739266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs138145262	chr1:191739469-191739470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs535252222	chr1:191739554-191739555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs142369378	chr1:191739627-191739628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs577894431	chr1:191739647-191739648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs146998125	chr1:191739677-191739678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs557137855	chr1:191739760-191739761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs184778838	chr1:191739762-191739763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs189195915	chr1:191739805-191739806	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs192736740	chr1:191739837-191739838	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs572153052	chr1:191739863-191739864	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs541304894	chr1:191739917-191739918	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs564476918	chr1:191739973-191739974	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs184127096	chr1:191740017-191740018	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs550079230	chr1:191740028-191740029	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs190039322	chr1:191740049-191740050	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs563912514	chr1:191740058-191740059	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs528943900	chr1:191740076-191740077	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	20688739	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21611746	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-small cell lung cancer	19010865	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Trisomy 5 syndrome	21098271	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Lung adenocarcinoma	17086460	CNVD
Glioblastoma multiforme	22286061	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	17086460	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:191735200-191740000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr1:191739800-191741800	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr1:191740000-191740600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr1:191740000-191741400	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr1:191740000-191741600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr1:191740200-191740400	Active TSS	iPS-20b Cell Line	embryonic stem cell
7	chr1:191740200-191741200	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr1:191740200-191741200	Enhancers	Fetal Heart	heart
9	chr1:191740200-191741400	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr1:191740200-191741600	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr1:191740200-191741600	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr1:191740400-191740600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
13	chr1:191740400-191741200	Enhancers	H1 Cell Line	embryonic stem cell
14	chr1:191740400-191741200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr1:191740400-191741600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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