Variant report

Variant	esv3380243
Chromosome Location	chr1:171179798-171179988
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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	rs149040427	chr1:171179812-171179813	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs373984425	chr1:171179814-171179815	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs186099212	chr1:171179827-171179828	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs544802060	chr1:171179875-171179876	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs111236003	chr1:171179907-171179908	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs71125296	chr1:171179919-171179920	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs3174837	chr1:171179939-171179940	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs578231031	chr1:171179958-171179959	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	16750200	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Rett syndrome	21593744	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21829676	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
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
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Retinoblastoma	19183342	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
Chordoma	18071362	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	CNVD
Burkitt''s lymphoma	19759907	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
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Breast cancer	21611746	CNVD
Neuroblastoma	18923191	CNVD
Soft tissue tumor	16732325	CNVD
Cancer	17060936	CNVD
Lung cancer	16740712	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Williams-beuren syndrome	16971481	CNVD
Developmental delay	21147756	CNVD
Burkitt''s lymphoma	20823134	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Lung cancer	18438408	CNVD
Breast cancer	20409316	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:171166000-171184000	Weak transcription	Gastric	stomach
2	chr1:171167200-171187800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr1:171169800-171189800	Weak transcription	Right Atrium	heart
4	chr1:171177800-171183600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr1:171178000-171183200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr1:171178200-171180800	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr1:171178200-171182600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr1:171178200-171187200	Weak transcription	Aorta	Aorta
9	chr1:171178600-171179800	Enhancers	Liver	Liver
10	chr1:171178600-171181000	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr1:171178600-171181600	Enhancers	Adipose Nuclei	Adipose
12	chr1:171178600-171182800	Weak transcription	Left Ventricle	heart
13	chr1:171178800-171180600	Enhancers	Fetal Intestine Large	intestine
14	chr1:171179000-171179800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr1:171179000-171179800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr1:171179000-171180600	Enhancers	Fetal Intestine Small	intestine
17	chr1:171179200-171179800	Enhancers	Rectal Mucosa Donor 31	rectum
18	chr1:171179200-171180600	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr1:171179200-171180600	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr1:171179400-171179800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
21	chr1:171179400-171179800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr1:171179400-171179800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr1:171179400-171179800	Enhancers	Brain Substantia Nigra	brain
24	chr1:171179400-171179800	Enhancers	Duodenum Smooth Muscle	Duodenum
25	chr1:171179400-171179800	Enhancers	Fetal Kidney	kidney
26	chr1:171179400-171180000	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr1:171179400-171180200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr1:171179400-171180600	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr1:171179400-171180600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr1:171179400-171181000	Enhancers	Fetal Lung	lung
31	chr1:171179600-171179800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr1:171179600-171179800	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr1:171179600-171179800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr1:171179600-171179800	Enhancers	Right Ventricle	heart
35	chr1:171179600-171179800	Enhancers	NHLF	lung
36	chr1:171179600-171180400	Enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr1:171179600-171182200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
38	chr1:171179600-171183000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr1:171179800-171181400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr1:171179800-171181400	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr1:171179800-171182200	Weak transcription	Liver	Liver
42	chr1:171179800-171183400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr1:171179800-171187600	Weak transcription	Brain Substantia Nigra	brain
44	chr1:171179800-171187800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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