Variant report

Variant	esv3330731
Chromosome Location	chr1:196298079-196300202
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 80 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:80 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532233499	chr1:196298132-196298133	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs565875593	chr1:196298195-196298196	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs151219035	chr1:196298216-196298217	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs566251713	chr1:196298241-196298242	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs536808871	chr1:196298253-196298254	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs555324531	chr1:196298257-196298258	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs570316987	chr1:196298261-196298262	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs537453795	chr1:196298269-196298270	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs373180370	chr1:196298274-196298275	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs140410587	chr1:196298295-196298296	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs572039439	chr1:196298298-196298299	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs186174959	chr1:196298309-196298310	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs189644484	chr1:196298310-196298311	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs553154491	chr1:196298339-196298340	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs60185937	chr1:196298361-196298362	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs529886460	chr1:196298372-196298373	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs76965715	chr1:196298396-196298397	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs180847157	chr1:196298416-196298417	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs548385339	chr1:196298455-196298456	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs34976622	chr1:196298471-196298472	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs567796685	chr1:196298503-196298504	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs531493850	chr1:196298513-196298514	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs543062729	chr1:196298514-196298515	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs534274944	chr1:196298541-196298542	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs538311689	chr1:196298556-196298557	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs532143377	chr1:196298650-196298651	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs547487595	chr1:196298674-196298675	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs565613627	chr1:196298682-196298683	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs556619850	chr1:196298760-196298761	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs73065829	chr1:196298789-196298790	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs370559260	chr1:196298829-196298830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs548761714	chr1:196298860-196298861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs571505288	chr1:196298861-196298862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs570408127	chr1:196298864-196298865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs537715744	chr1:196298865-196298866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs140575396	chr1:196298895-196298896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs186547469	chr1:196298927-196298928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs151210762	chr1:196299009-196299010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs374045385	chr1:196299010-196299011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs57881763	chr1:196299036-196299037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs374545260	chr1:196299081-196299082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs35458960	chr1:196299082-196299083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs553039159	chr1:196299103-196299104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs528709077	chr1:196299107-196299108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs71154737	chr1:196299114-196299115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs368254721	chr1:196299223-196299224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs534680824	chr1:196299273-196299274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs554209996	chr1:196299314-196299315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs574550182	chr1:196299329-196299330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs534597075	chr1:196299374-196299375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

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
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	20688739	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
Glioblastoma multiforme	22286061	CNVD
Urothelial carcinoma	21177765	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Mental retardation	21062444	CNVD
Liver carcinoma	19366792	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Neuroblastoma	20406844	CNVD

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:196256600-196302800	Weak transcription	Ovary	ovary
2	chr1:196266200-196309600	Weak transcription	Fetal Kidney	kidney
3	chr1:196268800-196304400	Weak transcription	Fetal Muscle Trunk	muscle
4	chr1:196273000-196313400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr1:196275800-196313000	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr1:196276000-196305000	Weak transcription	Fetal Lung	lung
7	chr1:196279400-196314400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr1:196282600-196298600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr1:196285200-196299800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr1:196285200-196302200	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr1:196285200-196303800	Weak transcription	Fetal Muscle Leg	muscle
12	chr1:196293600-196302400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr1:196296200-196299600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr1:196296800-196300800	Weak transcription	Liver	Liver
15	chr1:196296800-196301400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr1:196297200-196300200	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr1:196297400-196298600	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr1:196297800-196298800	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr1:196298000-196313400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr1:196298600-196298800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr1:196298600-196302400	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr1:196298800-196311200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr1:196299600-196300200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr1:196299600-196304200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr1:196299800-196300400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr1:196300200-196304200	Strong transcription	HUES64 Cell Line	embryonic stem cell
27	chr1:196300200-196313600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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