Variant report

Variant	esv3328141
Chromosome Location	chr22:30849727-30852250
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:30848250..30850657-chr22:30859446..30861041,2	K562	blood:
2	chr22:30839545..30842321-chr22:30849222..30852849,3	K562	blood:
3	chr22:30839961..30842016-chr22:30851349..30853503,2	K562	blood:
4	chr22:30841425..30844218-chr22:30849960..30852881,2	MCF-7	breast:

Extended variants
information (count: 112 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:112 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs202162224	chr22:30849755-30849756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs577608925	chr22:30849792-30849793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs73390297	chr22:30849801-30849802	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs528323926	chr22:30849814-30849815	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs75645541	chr22:30849836-30849837	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs561694627	chr22:30849889-30849890	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs187095027	chr22:30849934-30849935	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs377602711	chr22:30849953-30849954	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs550664827	chr22:30849956-30849957	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs118000788	chr22:30849974-30849975	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs146545864	chr22:30850035-30850036	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs149145062	chr22:30850122-30850123	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs571121457	chr22:30850163-30850164	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs534959355	chr22:30850239-30850240	Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs553547680	chr22:30850271-30850272	Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs568534296	chr22:30850277-30850278	Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs535583450	chr22:30850287-30850288	Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs557021537	chr22:30850307-30850308	Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs573479319	chr22:30850319-30850320	Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs575277135	chr22:30850338-30850339	Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs12627940	chr22:30850371-30850372	Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs557823667	chr22:30850386-30850387	Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs12627888	chr22:30850395-30850396	Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs114962488	chr22:30850435-30850436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs561938886	chr22:30850443-30850444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs148328445	chr22:30850460-30850461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs13054370	chr22:30850462-30850463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs200557153	chr22:30850486-30850487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs113775490	chr22:30850498-30850499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs28483863	chr22:30850511-30850512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs562560628	chr22:30850514-30850515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs371975171	chr22:30850521-30850522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs10677216	chr22:30850527-30850528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs112583160	chr22:30850530-30850531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs201278040	chr22:30850532-30850533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs377711428	chr22:30850543-30850544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs181084806	chr22:30850549-30850550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs374729691	chr22:30850554-30850555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs540113321	chr22:30850565-30850566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs562031746	chr22:30850571-30850572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs10677218	chr22:30850589-30850590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs35352938	chr22:30850590-30850591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs185561266	chr22:30850596-30850597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs544404665	chr22:30850612-30850613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs562714147	chr22:30850616-30850617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs189533840	chr22:30850660-30850661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs757661	chr22:30850714-30850715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs67991440	chr22:30850732-30850733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs551360020	chr22:30850736-30850737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs551460542	chr22:30850737-30850738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

Disease	PMID	Source
Hodgkin''s lymphoma	18641027	CNVD
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
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	20729466	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
Acute myeloid leukemia	21251322	CNVD
Endometrioid adenocarcinoma	16974079	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	17322880	CNVD
Breast cancer	20409316	CNVD
Neurofibromatosis type 2	19566914	CNVD
Autism	19384346	CNVD
Myelofibrosis	22110671	CNVD
muscular dystrophy type 1D	21248746	CNVD
Leukoplakia	24403051	CNVD
Ovarian neoplasms	16753589	CNVD
Autism	22495309	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30832000-30850000	Weak transcription	Right Atrium	heart
2	chr22:30832200-30852400	Weak transcription	Spleen	Spleen
3	chr22:30841800-30850000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr22:30847000-30849800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr22:30847400-30854200	Weak transcription	Gastric	stomach
6	chr22:30848000-30850000	Weak transcription	Fetal Intestine Large	intestine
7	chr22:30848200-30850000	Weak transcription	Fetal Intestine Small	intestine
8	chr22:30849800-30850000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr22:30850000-30850200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr22:30850000-30850400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr22:30850000-30850400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr22:30850000-30850400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr22:30850000-30850400	Enhancers	Fetal Intestine Large	intestine
14	chr22:30850200-30850400	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr22:30850200-30850400	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr22:30850200-30850400	Enhancers	Fetal Intestine Small	intestine
17	chr22:30850400-30851000	Weak transcription	Right Atrium	heart
18	chr22:30850400-30851400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr22:30850400-30854000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr22:30851400-30851800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr22:30851800-30852000	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin

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