Variant report

Variant	esv17283
Chromosome Location	chr12:34748481-34760877
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1063 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:1063 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs148965324	chr12:34748481-34748482	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs183880042	chr12:34748494-34748495	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs557534372	chr12:34748503-34748504	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs564234560	chr12:34748510-34748511	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs115841278	chr12:34748525-34748526	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs145629658	chr12:34748556-34748557	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs573466924	chr12:34748566-34748567	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs541884867	chr12:34748571-34748572	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs371256977	chr12:34748572-34748573	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs138244950	chr12:34748573-34748574	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs372123560	chr12:34748600-34748601	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs559145295	chr12:34748627-34748628	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs550654575	chr12:34748636-34748637	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs188563193	chr12:34748673-34748674	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs191922395	chr12:34748679-34748680	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs114772532	chr12:34748685-34748686	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs56376732	chr12:34748693-34748694	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs144899378	chr12:34748697-34748698	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs375444867	chr12:34748744-34748745	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs148236006	chr12:34748748-34748749	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs141261600	chr12:34748796-34748797	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs568069493	chr12:34748804-34748805	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs150784724	chr12:34748819-34748820	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs117012182	chr12:34748823-34748824	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs577244566	chr12:34748827-34748828	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs577298460	chr12:34748830-34748831	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs371923458	chr12:34748850-34748851	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs137978421	chr12:34748867-34748868	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs573623566	chr12:34748875-34748876	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs542495274	chr12:34748876-34748877	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs375224328	chr12:34748878-34748879	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs114453253	chr12:34748889-34748890	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs369551836	chr12:34748891-34748892	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs143562251	chr12:34748892-34748893	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs564056405	chr12:34748898-34748899	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs147132219	chr12:34748905-34748906	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs546519885	chr12:34748918-34748919	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs202041560	chr12:34748925-34748926	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs59704305	chr12:34748927-34748928	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs368238203	chr12:34748928-34748929	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs113244831	chr12:34748930-34748931	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs371904419	chr12:34748935-34748936	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs560107729	chr12:34748942-34748943	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs568133214	chr12:34748943-34748944	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs537021919	chr12:34748952-34748953	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs550935928	chr12:34749008-34749009	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs570894829	chr12:34749029-34749030	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs140312333	chr12:34749030-34749031	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs531303415	chr12:34749046-34749047	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs567029997	chr12:34749047-34749048	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:51)

Disease	PMID	Source
Squamous cell cancer	21044232	CNVD
Acute myeloid leukemia	16864856	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Testicular cancer	18059402	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Seminomas	18059402	CNVD
Wilms tumour	21544195	CNVD
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Testicular germ cell tumor	18059402	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21509527	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Cancer	21129771	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chordoma	18071362	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:34735400-34748800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr12:34736800-34750800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
3	chr12:34737800-34751000	ZNF genes & repeats	Liver	Liver
4	chr12:34739800-34749400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
5	chr12:34742400-34750600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
6	chr12:34743000-34753400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
7	chr12:34747400-34758800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
8	chr12:34747800-34761200	ZNF genes & repeats	Adipose Nuclei	Adipose
9	chr12:34748600-34748800	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
10	chr12:34748800-34751200	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr12:34748800-34752400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr12:34749000-34760600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
13	chr12:34749200-34750800	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
14	chr12:34750000-34751000	ZNF genes & repeats	Spleen	Spleen
15	chr12:34752600-34752800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
16	chr12:34752800-34754400	ZNF genes & repeats	Fetal Stomach	stomach
17	chr12:34752800-34761000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr12:34753000-34757600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
19	chr12:34757600-34758200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr12:34758000-34761000	ZNF genes & repeats	Duodenum Mucosa	Duodenum
21	chr12:34759000-34761000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum

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