Variant report

Variant	esv2758541
Chromosome Location	chr22:33868945-33909546
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:33904729..33906415-chr22:33911852..33913937,2	K562	blood:
2	chr22:33908671..33911236-chr22:34314506..34317499,3	MCF-7	breast:
3	chr17:31001718..31002627-chr22:33884453..33885240,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000133424	chromatin interactions

Extended variants
information (count: 1754 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:1754 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs569360899	chr22:33868954-33868955	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs117775408	chr22:33868956-33868957	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs531637448	chr22:33868962-33868963	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs547050583	chr22:33868973-33868974	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs186472756	chr22:33868996-33868997	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs539705393	chr22:33869011-33869012	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs553224720	chr22:33869013-33869014	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs147082746	chr22:33869022-33869023	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs112318214	chr22:33869074-33869075	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs373250504	chr22:33869083-33869084	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs140135299	chr22:33869153-33869154	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs555186450	chr22:33869154-33869155	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs574965011	chr22:33869155-33869156	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs543807572	chr22:33869156-33869157	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs148175948	chr22:33869180-33869181	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs377570032	chr22:33869257-33869258	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs57652800	chr22:33869274-33869275	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs374695325	chr22:33869290-33869291	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs370937792	chr22:33869301-33869302	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs529494607	chr22:33869305-33869306	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs549523688	chr22:33869308-33869309	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs150100317	chr22:33869316-33869317	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs192331486	chr22:33869318-33869319	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs2413188	chr22:33869321-33869322	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs533827383	chr22:33869325-33869326	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs571711249	chr22:33869358-33869359	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs5749614	chr22:33869360-33869361	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs138355685	chr22:33869401-33869402	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs371814289	chr22:33869429-33869430	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs5998954	chr22:33869455-33869456	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs376253144	chr22:33869462-33869463	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs183841616	chr22:33869481-33869482	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs188855303	chr22:33869489-33869490	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs539922959	chr22:33869515-33869516	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs575002960	chr22:33869530-33869531	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs192864489	chr22:33869541-33869542	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs557426706	chr22:33869549-33869550	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs566929475	chr22:33869552-33869553	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs540206614	chr22:33869574-33869575	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs550346599	chr22:33869575-33869576	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs560639763	chr22:33869593-33869594	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs574249572	chr22:33869594-33869595	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs542859028	chr22:33869656-33869657	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs563033346	chr22:33869685-33869686	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs5998955	chr22:33869699-33869700	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs12330094	chr22:33869710-33869711	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs142589166	chr22:33869740-33869741	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs183415285	chr22:33869741-33869742	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs547741092	chr22:33869747-33869748	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs74715564	chr22:33869826-33869827	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Velocardiofacial syndrome	20111667	CNVD
Medulloblastoma	21979893	CNVD
sporadic solitary meningiomas	19589153	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Autism	22495311	CNVD
Chordoma	21602918	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Congenital heart defect	22511896	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	17387387	CNVD
Seminomas	18059402	CNVD
Cancer	16751803	CNVD
Metanephric adenoma	20802469	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Colorectal cancer	19359472	CNVD
Metachromatic leukodystrophy	18421352	CNVD
Basal cell lymphoma	17170743	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Breast cancer	21858162	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Melanoma	18172304	CNVD
Ovarian cancer	22174824	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Wilms tumour	21544195	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
small cell lung cancer	20016488	CNVD
Cancer	21183584	CNVD
Renal cell carcinoma	18765545	CNVD
Schizophrenia	19521646	CNVD
Schizophrenia	18990708	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Hepatocellular carcinoma	16750200	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Autism	19384346	CNVD
Myelofibrosis	22110671	CNVD
muscular dystrophy type 1D	21248746	CNVD
Leukoplakia	24403051	CNVD
Ovarian neoplasms	16753589	CNVD
Deafness	17160897	CNVD
Bipolar disorder	19114987	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Prostate cancer	22341455	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD
Acute lymphoblastic leukemia	21339820	CNVD

Chromatin state (count:544 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:33857000-33872000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr22:33861200-33872200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr22:33861800-33872800	Weak transcription	Pancreas	Pancrea
4	chr22:33862200-33883000	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr22:33863600-33872000	Weak transcription	Primary B cells from peripheral blood	blood
6	chr22:33864000-33888200	Weak transcription	Fetal Stomach	stomach
7	chr22:33864000-33888200	Weak transcription	Ovary	ovary
8	chr22:33864200-33872800	Weak transcription	Right Atrium	heart
9	chr22:33866400-33869200	Flanking Active TSS	GM12878-XiMat	blood
10	chr22:33866800-33872000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr22:33867200-33870400	Weak transcription	Left Ventricle	heart
12	chr22:33867600-33869600	Enhancers	Psoas Muscle	Psoas
13	chr22:33868000-33869000	Enhancers	HSMM	muscle
14	chr22:33868000-33872600	Weak transcription	Osteobl	bone
15	chr22:33868200-33869000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr22:33868200-33869000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr22:33868200-33869000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr22:33868200-33869000	Enhancers	HSMMtube	muscle
19	chr22:33868200-33872000	Weak transcription	HepG2	liver
20	chr22:33868400-33869000	Enhancers	Duodenum Smooth Muscle	Duodenum
21	chr22:33868400-33871000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr22:33868400-33872400	Weak transcription	NHDF-Ad	bronchial
23	chr22:33868600-33869200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
24	chr22:33868800-33869000	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr22:33868800-33869000	Enhancers	Aorta	Aorta
26	chr22:33868800-33869000	Enhancers	Rectal Smooth Muscle	rectum
27	chr22:33868800-33869000	Enhancers	Right Ventricle	heart
28	chr22:33868800-33869000	Enhancers	Stomach Smooth Muscle	stomach
29	chr22:33868800-33869200	Enhancers	Fetal Heart	heart
30	chr22:33868800-33869600	Enhancers	Skeletal Muscle Male	skeletal muscle
31	chr22:33868800-33872200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr22:33869000-33870400	Weak transcription	Right Ventricle	heart
33	chr22:33869000-33872200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr22:33869000-33872200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr22:33869000-33872200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr22:33869000-33872400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr22:33869000-33873600	Weak transcription	Aorta	Aorta
38	chr22:33869000-33876400	Weak transcription	HSMMtube	muscle
39	chr22:33869200-33869600	Enhancers	Skeletal Muscle Female	skeletal muscle
40	chr22:33869200-33870600	Weak transcription	Fetal Heart	heart
41	chr22:33869200-33871200	Enhancers	GM12878-XiMat	blood
42	chr22:33869600-33870400	Weak transcription	Psoas Muscle	Psoas
43	chr22:33869600-33872200	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr22:33869600-33872400	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr22:33870400-33871000	Enhancers	Right Ventricle	heart
46	chr22:33870400-33871200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr22:33870400-33871200	Enhancers	Left Ventricle	heart
48	chr22:33870400-33871200	Enhancers	Psoas Muscle	Psoas
49	chr22:33870600-33871200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr22:33870600-33872400	Enhancers	Fetal Heart	heart

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