Variant report

Variant	esv3441265
Chromosome Location	chr22:30597552-30601950
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:30590030..30593992-chr22:30596510..30599068,3	K562	blood:
2	chr22:30600518..30603071-chr22:30604454..30606610,2	K562	blood:
3	chr22:30592298..30595321-chr22:30600135..30602217,3	K562	blood:
4	chr22:30593597..30595321-chr22:30600135..30601730,2	K562	blood:

Extended variants
information (count: 168 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:168 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs565678913	chr22:30597558-30597559	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs529610722	chr22:30597595-30597596	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs549289672	chr22:30597648-30597649	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs537258180	chr22:30597651-30597652	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs538134094	chr22:30597657-30597658	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs7285585	chr22:30597668-30597669	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs567246424	chr22:30597684-30597685	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs539165918	chr22:30597686-30597687	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs148403176	chr22:30597693-30597694	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs111674893	chr22:30597694-30597695	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs55661223	chr22:30597711-30597712	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs536613700	chr22:30597725-30597726	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs554985233	chr22:30597740-30597741	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs118039731	chr22:30597754-30597755	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs543734667	chr22:30597772-30597773	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs186736238	chr22:30597781-30597782	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs9614157	chr22:30597810-30597811	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs9614158	chr22:30597880-30597881	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs112396380	chr22:30597891-30597892	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs558435687	chr22:30597914-30597915	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs529658885	chr22:30597947-30597948	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs181196029	chr22:30597983-30597984	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs562923290	chr22:30598029-30598030	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs531928615	chr22:30598067-30598068	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs550055572	chr22:30598082-30598083	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs7290175	chr22:30598097-30598098	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs538811769	chr22:30598138-30598139	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs547894438	chr22:30598153-30598154	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs117356163	chr22:30598184-30598185	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs536720601	chr22:30598237-30598238	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs58601621	chr22:30598280-30598281	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs576492483	chr22:30598351-30598352	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs544071174	chr22:30598354-30598355	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs185822251	chr22:30598397-30598398	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs112660602	chr22:30598432-30598433	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs61620086	chr22:30598435-30598436	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs558524875	chr22:30598441-30598442	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs397969229	chr22:30598444-30598445	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs77365623	chr22:30598445-30598446	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs561176734	chr22:30598464-30598465	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs6006399	chr22:30598516-30598517	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs35539496	chr22:30598526-30598527	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs17728461	chr22:30598552-30598553	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs146450604	chr22:30598593-30598594	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs115424304	chr22:30598799-30598800	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs574220607	chr22:30598822-30598823	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs541521087	chr22:30598842-30598843	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs562988436	chr22:30598875-30598876	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs530387270	chr22:30598879-30598880	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs190342605	chr22:30598882-30598883	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

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
low-grade B-cell lymphoma tumor	18367492	CNVD
Medullary thyroid carcinoma	18765511	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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Myelofibrosis	22110671	CNVD
muscular dystrophy type 1D	21248746	CNVD
Leukoplakia	24403051	CNVD
Ovarian neoplasms	16753589	CNVD

Chromatin state (count:258 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30592000-30601400	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr22:30592600-30598200	Weak transcription	Esophagus	oesophagus
3	chr22:30592800-30598000	Weak transcription	Gastric	stomach
4	chr22:30592800-30602800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr22:30592800-30604800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr22:30593000-30598000	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr22:30593200-30598000	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr22:30593200-30598200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr22:30593200-30598600	Weak transcription	Lung	lung
10	chr22:30593200-30600600	Weak transcription	Spleen	Spleen
11	chr22:30593400-30597800	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr22:30593400-30598200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr22:30593400-30598600	Weak transcription	Placenta	Placenta
14	chr22:30593600-30597800	Weak transcription	Duodenum Mucosa	Duodenum
15	chr22:30593600-30597800	Weak transcription	Fetal Stomach	stomach
16	chr22:30593600-30598200	Weak transcription	HSMMtube	muscle
17	chr22:30593600-30598400	Weak transcription	Fetal Intestine Large	intestine
18	chr22:30593600-30598600	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr22:30593600-30600800	Weak transcription	Small Intestine	intestine
20	chr22:30593600-30603000	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr22:30593800-30597800	Weak transcription	Fetal Kidney	kidney
22	chr22:30593800-30598000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr22:30593800-30600400	Weak transcription	Osteobl	bone
24	chr22:30594400-30597800	Weak transcription	NH-A	brain
25	chr22:30594400-30598600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr22:30594800-30597800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr22:30594800-30597800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr22:30594800-30597800	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr22:30594800-30597800	Weak transcription	NHDF-Ad	bronchial
30	chr22:30595000-30597800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr22:30595000-30597800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr22:30595000-30600400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr22:30595200-30597800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr22:30595200-30597800	Weak transcription	NHEK	skin
35	chr22:30595200-30598200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr22:30595400-30598200	Weak transcription	Fetal Thymus	thymus
37	chr22:30595600-30600800	Weak transcription	Primary neutrophils fromperipheralblood	blood
38	chr22:30597000-30598200	Weak transcription	Pancreas	Pancrea
39	chr22:30597000-30598400	Enhancers	Hela-S3	cervix
40	chr22:30597200-30597600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr22:30597200-30597600	Weak transcription	Stomach Mucosa	stomach
42	chr22:30597400-30597600	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
43	chr22:30597400-30598600	Weak transcription	A549	lung
44	chr22:30597600-30603000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
45	chr22:30597600-30609800	Enhancers	Stomach Mucosa	stomach
46	chr22:30597600-30610000	Enhancers	Breast Myoepithelial Primary Cells	Breast
47	chr22:30597800-30598000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr22:30597800-30598000	Enhancers	NH-A	brain
49	chr22:30597800-30598200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr22:30597800-30598600	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung

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