Variant report

Variant	esv11671
Chromosome Location	chr22:32686431-32703283
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	22:32694902-32708216..22:33452523-33459358	K562	blood:

Variant related genes	Relation type
ENSG00000185666	chromatin interactions

Extended variants
information (count: 791 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:791 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201517001	chr22:32686462-32686463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs539340332	chr22:32686463-32686464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs5753923	chr22:32686466-32686467	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs545440309	chr22:32686501-32686502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs142415076	chr22:32686506-32686507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs528113477	chr22:32686553-32686554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs186187465	chr22:32686571-32686572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs5753924	chr22:32686573-32686574	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs117322984	chr22:32686587-32686588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs5749367	chr22:32686596-32686597	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs556831762	chr22:32686603-32686604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs562338849	chr22:32686634-32686635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs4821050	chr22:32686654-32686655	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs386820726	chr22:32686684-32686685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs4821052	chr22:32686685-32686686	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs527264515	chr22:32686687-32686688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs4821053	chr22:32686736-32686737	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs560781919	chr22:32686738-32686739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs190757868	chr22:32686747-32686748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs5998387	chr22:32686754-32686755	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs182559238	chr22:32686800-32686801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs539272883	chr22:32686807-32686808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs552872755	chr22:32686833-32686834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs4820070	chr22:32686862-32686863	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs77317087	chr22:32686866-32686867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs557335672	chr22:32686881-32686882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs554935948	chr22:32686931-32686932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs568406951	chr22:32686949-32686950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs537124585	chr22:32686956-32686957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs530322969	chr22:32686991-32686992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs375053591	chr22:32686996-32686997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs545159205	chr22:32686997-32686998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs575798654	chr22:32687012-32687013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs4820071	chr22:32687036-32687037	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs558525176	chr22:32687105-32687106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs5749368	chr22:32687112-32687113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs370029833	chr22:32687151-32687152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs147236877	chr22:32687164-32687165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs140699399	chr22:32687165-32687166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs71184568	chr22:32687167-32687168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs572314473	chr22:32687173-32687174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs141378306	chr22:32687182-32687183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs150797857	chr22:32687183-32687184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs62241094	chr22:32687191-32687192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs139167046	chr22:32687193-32687194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs544133023	chr22:32687237-32687238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs371346337	chr22:32687243-32687244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs111668659	chr22:32687245-32687246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs541009417	chr22:32687248-32687249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs560937018	chr22:32687256-32687257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

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

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:32674000-32690000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr22:32690000-32690400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr22:32696200-32696600	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr22:32696200-32696600	Active TSS	H9 Cell Line	embryonic stem cell
5	chr22:32696200-32696600	Active TSS	HUES6 Cell Line	embryonic stem cell
6	chr22:32696600-32698200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr22:32696600-32704800	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr22:32700000-32700400	Enhancers	Fetal Brain Male	brain
9	chr22:32701400-32701800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr22:32701600-32701800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
11	chr22:32701600-32702000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr22:32701800-32702000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr22:32701800-32702000	Enhancers	Spleen	Spleen
14	chr22:32702000-32705600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr22:32702000-32707000	Weak transcription	Spleen	Spleen

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