Variant report

Variant	esv1552754
Chromosome Location	chr1:246957424-246957446
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	chr1:246947863..246950737-chr1:246955534..246958026,3	K562	blood:

Extended variants
information (count: 1 )
Associated
traits (count: 83 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs72191060	chr1:246957425-246957426	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Melanoma	18172304	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
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
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:246949000-246957600	Weak transcription	NHDF-Ad	bronchial
2	chr1:246949400-246957600	Weak transcription	NHLF	lung
3	chr1:246952600-246957600	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr1:246952600-246957800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr1:246952800-246957600	Weak transcription	Fetal Brain Female	brain
6	chr1:246952800-246957800	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr1:246953000-246957600	Weak transcription	Fetal Heart	heart
8	chr1:246953000-246957600	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr1:246953000-246957600	Weak transcription	Right Ventricle	heart
10	chr1:246953000-246957800	Weak transcription	Fetal Intestine Small	intestine
11	chr1:246953200-246957600	Weak transcription	Spleen	Spleen
12	chr1:246953400-246957600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr1:246953400-246957600	Weak transcription	Fetal Lung	lung
14	chr1:246953400-246957600	Weak transcription	Ovary	ovary
15	chr1:246953400-246958000	Weak transcription	Fetal Kidney	kidney
16	chr1:246953400-246961600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr1:246954800-246957600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr1:246955600-246959400	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr1:246956000-246957600	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr1:246956200-246959000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr1:246956200-246959200	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr1:246956200-246959400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr1:246956400-246958400	Enhancers	H9 Cell Line	embryonic stem cell
24	chr1:246956400-246958600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr1:246956400-246959200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr1:246956400-246959200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr1:246956400-246959200	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr1:246956400-246959400	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr1:246956400-246959400	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr1:246956400-246959800	Enhancers	H1 Cell Line	embryonic stem cell
31	chr1:246956600-246957600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr1:246956600-246958000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr1:246956600-246958400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr1:246956600-246958800	Enhancers	Placenta	Placenta
35	chr1:246956600-246959800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr1:246956800-246957600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr1:246956800-246957600	Enhancers	Hela-S3	cervix
38	chr1:246956800-246957800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
39	chr1:246956800-246958000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr1:246956800-246958400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr1:246956800-246958400	Enhancers	Fetal Stomach	stomach
42	chr1:246956800-246958600	Enhancers	Left Ventricle	heart
43	chr1:246957000-246957600	Weak transcription	A549	lung
44	chr1:246957000-246958000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr1:246957000-246958200	Enhancers	Brain Germinal Matrix	brain
46	chr1:246957000-246958400	Enhancers	Gastric	stomach
47	chr1:246957000-246958800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr1:246957000-246959200	Enhancers	HSMMtube	muscle
49	chr1:246957200-246962400	Weak transcription	Fetal Brain Male	brain
50	chr1:246957400-246957600	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell

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