Variant report

Variant	esv11310
Chromosome Location	chr1:224199356-224204485
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 744 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:744 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs566666722	chr1:224199396-224199397	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs139763200	chr1:224199409-224199410	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs201678197	chr1:224199411-224199412	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs549387000	chr1:224199412-224199413	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs372839283	chr1:224199413-224199414	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs144516208	chr1:224199427-224199428	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs150966056	chr1:224199439-224199440	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs556984576	chr1:224199449-224199450	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs141117783	chr1:224199451-224199452	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs199688298	chr1:224199456-224199457	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs143140379	chr1:224199471-224199472	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs539685051	chr1:224199491-224199492	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs61823289	chr1:224199492-224199493	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs61823290	chr1:224199494-224199495	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs61823291	chr1:224199496-224199497	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs557869478	chr1:224199497-224199498	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs9661819	chr1:224199507-224199508	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs61823292	chr1:224199530-224199531	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs66516167	chr1:224199532-224199533	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs200838999	chr1:224199535-224199536	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs374000085	chr1:224199537-224199538	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs202061279	chr1:224199539-224199540	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs200636315	chr1:224199540-224199541	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs149841818	chr1:224199541-224199542	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs200934663	chr1:224199542-224199543	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs61823293	chr1:224199545-224199546	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs144115167	chr1:224199564-224199565	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs200993919	chr1:224199565-224199566	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs11434374	chr1:224199568-224199569	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs201648703	chr1:224199569-224199570	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs199976073	chr1:224199570-224199571	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs200602823	chr1:224199571-224199572	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs370031089	chr1:224199585-224199586	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs544980772	chr1:224199607-224199608	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs202198475	chr1:224199615-224199616	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs200364118	chr1:224199616-224199617	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs527339760	chr1:224199619-224199620	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs547456594	chr1:224199621-224199622	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs111369274	chr1:224199627-224199628	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs562894355	chr1:224199686-224199687	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs533343336	chr1:224199689-224199690	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs199782842	chr1:224199696-224199697	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs12122474	chr1:224199704-224199705	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs545232519	chr1:224199707-224199708	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs560193670	chr1:224199727-224199728	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs527759139	chr1:224199734-224199735	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs200501340	chr1:224199744-224199745	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs377005893	chr1:224199745-224199746	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs201489005	chr1:224199752-224199753	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs199712169	chr1:224199754-224199755	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

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
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
Basal cell lymphoma	17053054	CNVD
Developmental delay	21147756	CNVD
Autism	14699429	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	20808228	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
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Leukoplakia	24403051	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Glioblastoma multiforme	21138945	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164920	CNVD
Cancer	17060936	CNVD

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224181600-224199400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr1:224181600-224199400	Weak transcription	NH-A	brain
3	chr1:224181800-224201800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr1:224193000-224199400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr1:224196800-224199400	Weak transcription	Psoas Muscle	Psoas
6	chr1:224198800-224204200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
7	chr1:224199000-224204400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr1:224199200-224199800	ZNF genes & repeats	HSMM	muscle
9	chr1:224199200-224200600	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
10	chr1:224199200-224201200	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr1:224199200-224201200	ZNF genes & repeats	NHDF-Ad	bronchial
12	chr1:224199200-224201400	ZNF genes & repeats	Fetal Muscle Trunk	muscle
13	chr1:224199200-224202600	ZNF genes & repeats	HSMMtube	muscle
14	chr1:224199200-224202800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr1:224199200-224202800	ZNF genes & repeats	GM12878-XiMat	blood
16	chr1:224199200-224203800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr1:224199200-224203800	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
18	chr1:224199200-224203800	ZNF genes & repeats	Aorta	Aorta
19	chr1:224199200-224203800	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
20	chr1:224199200-224203800	ZNF genes & repeats	K562	blood
21	chr1:224199200-224203800	ZNF genes & repeats	Osteobl	bone
22	chr1:224199200-224204000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr1:224199200-224204000	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr1:224199200-224204000	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr1:224199200-224204000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
26	chr1:224199200-224204000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
27	chr1:224199200-224204000	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
28	chr1:224199200-224204000	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
29	chr1:224199200-224204000	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
30	chr1:224199200-224204000	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr1:224199200-224204000	ZNF genes & repeats	Primary T killer memory cells from peripheral blood	blood
32	chr1:224199200-224204000	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
33	chr1:224199200-224204000	ZNF genes & repeats	Brain Angular Gyrus	brain
34	chr1:224199200-224204000	ZNF genes & repeats	Brain Anterior Caudate	brain
35	chr1:224199200-224204000	ZNF genes & repeats	Brain Cingulate Gyrus	brain
36	chr1:224199200-224204000	ZNF genes & repeats	Brain Hippocampus Middle	brain
37	chr1:224199200-224204000	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
38	chr1:224199200-224204000	ZNF genes & repeats	Brain Substantia Nigra	brain
39	chr1:224199200-224204000	ZNF genes & repeats	Colonic Mucosa	Colon
40	chr1:224199200-224204000	ZNF genes & repeats	Colon Smooth Muscle	Colon
41	chr1:224199200-224204000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
42	chr1:224199200-224204000	ZNF genes & repeats	Fetal Brain Male	brain
43	chr1:224199200-224204000	ZNF genes & repeats	Fetal Heart	heart
44	chr1:224199200-224204000	ZNF genes & repeats	Fetal Kidney	kidney
45	chr1:224199200-224204000	ZNF genes & repeats	Fetal Lung	lung
46	chr1:224199200-224204000	ZNF genes & repeats	Pancreas	Pancrea
47	chr1:224199200-224204000	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
48	chr1:224199200-224204000	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
49	chr1:224199200-224204000	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
50	chr1:224199200-224204000	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle

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