Variant report

Variant	esv3453788
Chromosome Location	chr1:245845702-245846055
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:245844891..245847833-chr1:245848844..245850567,2	K562	blood:
2	chr1:245842185..245843707-chr1:245845104..245847770,2	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs182426849	chr1:245845708-245845709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs187756395	chr1:245845726-245845727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs56144962	chr1:245845749-245845750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs536309946	chr1:245845750-245845751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs552969799	chr1:245845752-245845753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs568022813	chr1:245845756-245845757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs56394706	chr1:245845761-245845762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs555026906	chr1:245845768-245845769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs376398627	chr1:245845769-245845770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs545412052	chr1:245845771-245845772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs55843998	chr1:245845805-245845806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs565563477	chr1:245845878-245845879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs12409328	chr1:245845884-245845885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs12731413	chr1:245845994-245845995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs535434529	chr1:245846006-245846007	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs144715576	chr1:245846030-245846031	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs148537502	chr1:245846031-245846032	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs561433777	chr1:245846053-245846054	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	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
Liposarcoma	21253554	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
Neuroblastoma	21899760	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	20729466	CNVD
Testicular germ cell tumor	18059402	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Basal cell lymphoma	17053054	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
Cancer	17060936	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-small cell lung cancer	21829676	CNVD
Multiple myeloma	16616336	CNVD
Ovarian cancer	21720365	CNVD
Glioblastoma multiforme	22291905	CNVD
Myelofibrosis	22110671	CNVD
Disease	21936942	CNVD
laryngomalacia	21936942	CNVD
GLUT3 deficiency syndrome	20509907	CNVD
Developmental delay	21373258	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Developmental delay	19490664	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Cutaneous malignant melanoma	18794153	CNVD
Astrocytoma	17934521	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Breast cancer	20409316	CNVD
Fibroblasts	17951408	CNVD
Lung cancer	17951408	CNVD
Autism	20841430	CNVD
Breast cancer	21364760	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:245815200-245846200	Weak transcription	Fetal Brain Female	brain
2	chr1:245815200-245848400	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr1:245831200-245846400	Weak transcription	Placenta	Placenta
4	chr1:245831200-245847400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr1:245835600-245848400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr1:245836000-245848400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr1:245837200-245846600	Weak transcription	NHLF	lung
8	chr1:245838600-245846400	Weak transcription	Right Ventricle	heart
9	chr1:245839800-245849600	Weak transcription	Gastric	stomach
10	chr1:245840000-245846000	Weak transcription	Fetal Heart	heart
11	chr1:245841000-245848000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr1:245841400-245846000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr1:245841400-245846200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr1:245841400-245856200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr1:245842400-245847800	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr1:245842600-245846200	Weak transcription	Fetal Stomach	stomach
17	chr1:245843200-245851200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr1:245844000-245846200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr1:245844200-245846000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr1:245844200-245846400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr1:245844200-245851000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr1:245844200-245870400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr1:245846000-245846200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr1:245846000-245846200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr1:245846000-245846600	Enhancers	Fetal Heart	heart
26	chr1:245846000-245847400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr1:245846000-245848400	Enhancers	Fetal Lung	lung

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