Variant report

Variant	esv3352655
Chromosome Location	chr1:228344032-228344209
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	chr1:228343198..228344704-chr1:228404539..228407474,2	MCF-7	breast:
2	chr1:228282033..228284613-chr1:228342310..228344410,2	MCF-7	breast:

Extended variants
information (count: 8 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs377262184	chr1:228344040-228344041	Flanking Active TSS Genic enhancers Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
2	rs533849218	chr1:228344054-228344055	Flanking Active TSS Genic enhancers Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
3	rs374610912	chr1:228344074-228344075	Flanking Active TSS Genic enhancers Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
4	rs553925791	chr1:228344091-228344092	Flanking Active TSS Genic enhancers Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
5	rs573830974	chr1:228344109-228344110	Flanking Active TSS Genic enhancers Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
6	rs542851424	chr1:228344114-228344115	Flanking Active TSS Genic enhancers Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
7	rs556436743	chr1:228344147-228344148	Flanking Active TSS Genic enhancers Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
8	rs534601725	chr1:228344150-228344151	Flanking Active TSS Genic enhancers Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	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
Breast cancer	17603634	CNVD
Neuroblastoma	21899760	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
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
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Mental retardation	19951919	CNVD
Non-syndromic sensorineural hearing loss	17873649	CNVD
Basal cell lymphoma	17053054	CNVD
Autism	14699429	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Fumarase deficiency	21572526	CNVD
Autism	17483303	CNVD
Kartagener syndrome	16639409	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21138945	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164920	CNVD
Cancer	17060936	CNVD
Myelofibrosis	22110671	CNVD
abnormal development	18461090	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Lung adenocarcinoma	21935476	CNVD

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:228332800-228349800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr1:228333200-228344600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr1:228333800-228350400	Weak transcription	Primary B cells from cord blood	blood
4	chr1:228336800-228350200	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr1:228337200-228344400	Weak transcription	Primary B cells from peripheral blood	blood
6	chr1:228337800-228349800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr1:228338000-228349200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr1:228338000-228349600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr1:228338200-228344800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr1:228338200-228344800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr1:228338200-228352400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr1:228338400-228349200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr1:228339000-228346000	Weak transcription	HMEC	breast
14	chr1:228339400-228344400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr1:228339400-228344400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr1:228339400-228345000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr1:228339400-228352600	Weak transcription	Brain Anterior Caudate	brain
18	chr1:228339600-228345600	Weak transcription	Right Atrium	heart
19	chr1:228339600-228349000	Weak transcription	NHLF	lung
20	chr1:228339800-228349400	Weak transcription	Brain Angular Gyrus	brain
21	chr1:228340000-228349200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr1:228340200-228345200	Weak transcription	Right Ventricle	heart
23	chr1:228340600-228349600	Weak transcription	Colon Smooth Muscle	Colon
24	chr1:228341000-228344200	Enhancers	Fetal Thymus	thymus
25	chr1:228341600-228344400	Enhancers	Thymus	Thymus
26	chr1:228341800-228345400	Enhancers	Primary T helper cells PMA-I stimulated	--
27	chr1:228342000-228344200	Enhancers	Primary T cells from cord blood	blood
28	chr1:228342000-228344200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
29	chr1:228342000-228344400	Enhancers	Primary T cells fromperipheralblood	blood
30	chr1:228342200-228345200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
31	chr1:228342600-228344200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr1:228342600-228344200	Enhancers	Esophagus	oesophagus
33	chr1:228342600-228344200	Enhancers	Hela-S3	cervix
34	chr1:228342600-228350000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr1:228342800-228344400	Bivalent Enhancer	Fetal Muscle Leg	muscle
36	chr1:228342800-228345800	Enhancers	Lung	lung
37	chr1:228342800-228346400	Weak transcription	Stomach Smooth Muscle	stomach
38	chr1:228343000-228344200	Enhancers	Fetal Heart	heart
39	chr1:228343000-228347200	Weak transcription	Brain Cingulate Gyrus	brain
40	chr1:228343200-228345600	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr1:228343200-228349200	Weak transcription	K562	blood
42	chr1:228343400-228344200	Enhancers	Brain Inferior Temporal Lobe	brain
43	chr1:228343400-228344800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr1:228343400-228344800	Weak transcription	Fetal Intestine Small	intestine
45	chr1:228343400-228347400	Weak transcription	NHEK	skin
46	chr1:228343400-228352400	Weak transcription	A549	lung
47	chr1:228343600-228344200	Genic enhancers	Spleen	Spleen
48	chr1:228343800-228344200	Genic enhancers	Brain Substantia Nigra	brain
49	chr1:228343800-228344200	Enhancers	Gastric	stomach
50	chr1:228343800-228344200	Enhancers	Pancreas	Pancrea

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