Variant report

Variant	esv3424960
Chromosome Location	chr1:222212569-222212887
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2584329	chr1:222212632-222212633	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs552729478	chr1:222212636-222212637	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs183219195	chr1:222212640-222212641	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs541746686	chr1:222212711-222212712	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs149799511	chr1:222212720-222212721	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs111592280	chr1:222212730-222212731	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs530628012	chr1:222212738-222212739	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs188499844	chr1:222212739-222212740	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs564603152	chr1:222212745-222212746	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs528607427	chr1:222212755-222212756	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs536093999	chr1:222212772-222212773	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs546936709	chr1:222212773-222212774	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs193059332	chr1:222212782-222212783	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs146067557	chr1:222212795-222212796	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs551305853	chr1:222212824-222212825	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs564824376	chr1:222212887-222212888	Weak transcription Enhancers Flanking Active TSS	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
Acute lymphoblastic leukemia	21098271	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
Acute lymphoblastic leukemia	22237106	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
Congenital diaphragmatic hernia	21085971	CNVD
Mental retardation	19951919	CNVD
Non-syndromic sensorineural hearing loss	17873649	CNVD
Acute myeloid leukemia	17268525	CNVD
Lung cancer	16740712	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17053054	CNVD
Developmental delay	21147756	CNVD
Autism	14699429	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
lymphocytic leukemia	21291569	CNVD
Autism	20808228	CNVD
Pancreatic cancer	17952125	CNVD
Fumarase deficiency	21572526	CNVD
Autism	17483303	CNVD
Kartagener syndrome	16639409	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
Non-syndromic sensorineural hearing loss	17431168	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:222195000-222216000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr1:222204200-222216600	Weak transcription	Aorta	Aorta
3	chr1:222205800-222212600	Weak transcription	Fetal Muscle Leg	muscle
4	chr1:222207000-222217200	Enhancers	Fetal Heart	heart
5	chr1:222208400-222212800	Weak transcription	Right Ventricle	heart
6	chr1:222208600-222213200	Weak transcription	Psoas Muscle	Psoas
7	chr1:222209000-222212800	Weak transcription	Fetal Brain Male	brain
8	chr1:222210400-222212800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr1:222211200-222212800	Enhancers	Skeletal Muscle Male	skeletal muscle
10	chr1:222211200-222213400	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr1:222211200-222215200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr1:222211200-222216600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr1:222211400-222214000	Enhancers	Right Atrium	heart
14	chr1:222211400-222215200	Weak transcription	Osteobl	bone
15	chr1:222211400-222216800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr1:222211600-222214400	Enhancers	Left Ventricle	heart
17	chr1:222211800-222215200	Weak transcription	HSMMtube	muscle
18	chr1:222212200-222212800	Enhancers	Liver	Liver
19	chr1:222212400-222212600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
20	chr1:222212600-222212800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
21	chr1:222212600-222212800	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr1:222212600-222212800	Enhancers	HepG2	liver
23	chr1:222212600-222214600	Enhancers	Fetal Muscle Leg	muscle
24	chr1:222212800-222213000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
25	chr1:222212800-222213000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
26	chr1:222212800-222214000	Enhancers	Fetal Brain Male	brain
27	chr1:222212800-222214600	Enhancers	Right Ventricle	heart
28	chr1:222212800-222215200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr1:222212800-222216600	Weak transcription	Liver	Liver

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