Variant report

Variant	esv3496816
Chromosome Location	chr22:31985291-31990564
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:31976205..31978536-chr22:31989845..31992334,2	MCF-7	breast:
2	chr22:31974667..31977596-chr22:31983172..31985417,2	MCF-7	breast:
3	chr22:31983609..31985774-chr22:32339217..32341040,2	MCF-7	breast:
4	chr22:31980968..31983542-chr22:31989382..31992325,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000198089	chromatin interactions
ENSG00000128245	chromatin interactions

Extended variants
information (count: 170 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:170 , 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	rs551483737	chr22:31985299-31985300	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs138844666	chr22:31985312-31985313	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs571273521	chr22:31985316-31985317	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs533941892	chr22:31985324-31985325	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs202127467	chr22:31985430-31985431	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs5753710	chr22:31985432-31985433	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs116125433	chr22:31985433-31985434	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs560840877	chr22:31985437-31985438	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs201984664	chr22:31985449-31985450	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs371040426	chr22:31985471-31985472	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs374937312	chr22:31985483-31985484	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs192196763	chr22:31985484-31985485	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs200928606	chr22:31985498-31985499	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs200458156	chr22:31985517-31985518	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs367598903	chr22:31985518-31985519	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs199525016	chr22:31985522-31985523	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs577662337	chr22:31985523-31985524	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs372059745	chr22:31985548-31985549	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs375427895	chr22:31985553-31985554	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs201287795	chr22:31985554-31985555	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs560463932	chr22:31985573-31985574	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs367952632	chr22:31985604-31985605	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs529224062	chr22:31985691-31985692	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs548885755	chr22:31985716-31985717	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs184225058	chr22:31985727-31985728	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs138374800	chr22:31985753-31985754	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs143747394	chr22:31985765-31985766	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs377108190	chr22:31985768-31985769	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs62237805	chr22:31985772-31985773	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs200169608	chr22:31985775-31985776	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs113892832	chr22:31985776-31985777	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs371708862	chr22:31985781-31985782	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs56108021	chr22:31985783-31985784	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs547421808	chr22:31985785-31985786	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs567841027	chr22:31985787-31985788	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs536921651	chr22:31985795-31985796	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs541733673	chr22:31985809-31985810	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs149252817	chr22:31985810-31985811	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs570189187	chr22:31985836-31985837	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs201147585	chr22:31985894-31985895	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs368987723	chr22:31985904-31985905	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs13057486	chr22:31985989-31985990	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs577855789	chr22:31986013-31986014	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs540220207	chr22:31986017-31986018	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs188577303	chr22:31986049-31986050	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs3986044	chr22:31986093-31986094	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs3986045	chr22:31986132-31986133	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs116783514	chr22:31986136-31986137	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs562650447	chr22:31986250-31986251	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs62237806	chr22:31986300-31986301	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:67)

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
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
Breast cancer	17142309	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	22341455	CNVD

Chromatin state (count:237 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31929800-31985600	Weak transcription	Fetal Kidney	kidney
2	chr22:31935200-31985400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr22:31935800-32013200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr22:31947800-32009600	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr22:31949400-32014400	Weak transcription	Hela-S3	cervix
6	chr22:31957400-32016400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr22:31964600-31993600	Weak transcription	Psoas Muscle	Psoas
8	chr22:31967000-31985400	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr22:31968800-31986200	Strong transcription	Fetal Thymus	thymus
10	chr22:31968800-32003800	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr22:31974400-31998200	Weak transcription	Small Intestine	intestine
12	chr22:31974800-31998200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr22:31975000-32003800	Weak transcription	Aorta	Aorta
14	chr22:31976200-32014800	Weak transcription	A549	lung
15	chr22:31976400-32014800	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr22:31976400-32019200	Weak transcription	Fetal Brain Male	brain
17	chr22:31977000-31985400	Weak transcription	Stomach Mucosa	stomach
18	chr22:31978200-31987200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr22:31978400-31985800	Strong transcription	Thymus	Thymus
20	chr22:31978600-31985800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr22:31979600-31985800	Strong transcription	Dnd41	blood
22	chr22:31979600-31986200	Strong transcription	Primary T cells from cord blood	blood
23	chr22:31979600-31986200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr22:31979600-31986400	Strong transcription	Primary B cells from peripheral blood	blood
25	chr22:31979800-31985800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
26	chr22:31979800-31985800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr22:31979800-31985800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr22:31979800-31985800	Strong transcription	Fetal Muscle Trunk	muscle
29	chr22:31979800-31986200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
30	chr22:31979800-31986200	Strong transcription	Brain Inferior Temporal Lobe	brain
31	chr22:31980000-31985800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr22:31981000-31985800	Strong transcription	Brain Germinal Matrix	brain
33	chr22:31981200-31986400	Weak transcription	Fetal Heart	heart
34	chr22:31981400-31986200	Strong transcription	Fetal Stomach	stomach
35	chr22:31981600-31985800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr22:31981600-31985800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr22:31981800-31995600	Weak transcription	HUVEC	blood vessel
38	chr22:31982000-31985800	Strong transcription	Brain Substantia Nigra	brain
39	chr22:31982000-31985800	Strong transcription	Monocytes-CD14+_RO01746	blood
40	chr22:31982000-31989800	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr22:31982000-31998000	Weak transcription	Brain Angular Gyrus	brain
42	chr22:31982200-31985400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr22:31982400-31985400	Weak transcription	Brain Cingulate Gyrus	brain
44	chr22:31982400-31998200	Weak transcription	Gastric	stomach
45	chr22:31982600-31985400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr22:31982600-31985400	Enhancers	HepG2	liver
47	chr22:31982600-31986200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr22:31982600-31997400	Weak transcription	Brain Hippocampus Middle	brain
49	chr22:31982600-31998000	Weak transcription	NHEK	skin
50	chr22:31982600-31998400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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