Variant report

Variant	esv3375987
Chromosome Location	chr22:29632531-29635637
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	chr22:29633274..29634988-chr22:29655827..29657402,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000237015	chromatin interactions

Extended variants
information (count: 99 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:99 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12373988	chr22:29632557-29632558	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs189222813	chr22:29632573-29632574	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs35269245	chr22:29632596-29632597	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs575077633	chr22:29632618-29632619	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs536122313	chr22:29632658-29632659	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs557422440	chr22:29632708-29632709	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs12166644	chr22:29632731-29632732	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs7284125	chr22:29632738-29632739	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs374502076	chr22:29632784-29632785	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs145398975	chr22:29632787-29632788	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs573281179	chr22:29632794-29632795	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs367849263	chr22:29632799-29632800	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs540104914	chr22:29632819-29632820	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs369557692	chr22:29632825-29632826	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs191576244	chr22:29632826-29632827	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs200486582	chr22:29632863-29632864	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs529207075	chr22:29632872-29632873	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs62227042	chr22:29632882-29632883	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs562168191	chr22:29632957-29632958	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs532718618	chr22:29632970-29632971	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs551069895	chr22:29632993-29632994	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs140835934	chr22:29633029-29633030	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs375019136	chr22:29633030-29633031	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs12161095	chr22:29633059-29633060	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs12171266	chr22:29633075-29633076	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs183790925	chr22:29633153-29633154	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs12158292	chr22:29633234-29633235	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs553336962	chr22:29633342-29633343	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs575720728	chr22:29633367-29633368	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs55735106	chr22:29633449-29633450	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs539885000	chr22:29633465-29633466	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs558182789	chr22:29633517-29633518	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs8137876	chr22:29633564-29633565	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs573286481	chr22:29633603-29633604	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs540707393	chr22:29633604-29633605	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs572647681	chr22:29633631-29633632	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs369871411	chr22:29633651-29633652	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs374102501	chr22:29633662-29633663	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs561750191	chr22:29633714-29633715	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs573753686	chr22:29633744-29633745	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs544105386	chr22:29633745-29633746	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs377367271	chr22:29633777-29633778	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs570638620	chr22:29633785-29633786	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs71196642	chr22:29633789-29633790	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	mRNA abundance
45	rs5752882	chr22:29633826-29633827	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs191754387	chr22:29633849-29633850	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs150092333	chr22:29633896-29633897	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs183457680	chr22:29633934-29633935	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs62227043	chr22:29633935-29633936	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs574711860	chr22:29634051-29634052	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:68)

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
abnormal development	18461090	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
Gastrointestinal stromal cancer	20877625	CNVD
Myelofibrosis	22110671	CNVD
Non-small cell lung cancer	21829676	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	22522925	CNVD
Autism	17322880	CNVD
Breast cancer	20409316	CNVD
Neurofibromatosis type 2	19566914	CNVD
Autism	19384346	CNVD

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29622000-29655200	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr22:29622000-29655800	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr22:29622400-29656600	Weak transcription	Colonic Mucosa	Colon
4	chr22:29622600-29641400	Weak transcription	Stomach Smooth Muscle	stomach
5	chr22:29628400-29641200	Weak transcription	Fetal Brain Male	brain
6	chr22:29629000-29635000	Weak transcription	Fetal Kidney	kidney
7	chr22:29629000-29659400	Weak transcription	Brain Anterior Caudate	brain
8	chr22:29629600-29655400	Weak transcription	Liver	Liver
9	chr22:29629600-29655400	Weak transcription	Gastric	stomach
10	chr22:29630200-29639400	Weak transcription	Ovary	ovary
11	chr22:29630200-29641400	Weak transcription	Pancreas	Pancrea
12	chr22:29630400-29635800	Weak transcription	Fetal Stomach	stomach
13	chr22:29630400-29636000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr22:29630600-29633800	Weak transcription	Primary hematopoietic stem cells	blood
15	chr22:29630600-29634800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr22:29630600-29634800	Weak transcription	Dnd41	blood
17	chr22:29630600-29635400	Weak transcription	Brain Germinal Matrix	brain
18	chr22:29630600-29635400	Weak transcription	Fetal Brain Female	brain
19	chr22:29630600-29639400	Weak transcription	Spleen	Spleen
20	chr22:29630800-29635000	Weak transcription	Fetal Lung	lung
21	chr22:29631000-29635200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr22:29631400-29636800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr22:29632000-29632600	Strong transcription	Fetal Intestine Large	intestine
24	chr22:29632000-29635400	Strong transcription	Fetal Intestine Small	intestine
25	chr22:29632600-29634600	Weak transcription	Fetal Intestine Large	intestine
26	chr22:29633400-29636600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr22:29633600-29654400	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr22:29633800-29635400	Strong transcription	Primary hematopoietic stem cells	blood
29	chr22:29634600-29634800	ZNF genes & repeats	Fetal Intestine Large	intestine
30	chr22:29634600-29655200	Weak transcription	Brain Angular Gyrus	brain
31	chr22:29634800-29635000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr22:29634800-29636000	ZNF genes & repeats	Dnd41	blood
33	chr22:29634800-29639800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
34	chr22:29634800-29640400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr22:29634800-29641200	Strong transcription	Fetal Intestine Large	intestine
36	chr22:29635000-29635600	Strong transcription	Fetal Kidney	kidney
37	chr22:29635000-29635800	ZNF genes & repeats	Fetal Lung	lung
38	chr22:29635200-29635800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr22:29635400-29635800	ZNF genes & repeats	Brain Germinal Matrix	brain
40	chr22:29635400-29635800	ZNF genes & repeats	Fetal Brain Female	brain
41	chr22:29635400-29636000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
42	chr22:29635400-29638200	ZNF genes & repeats	Fetal Intestine Small	intestine
43	chr22:29635600-29635800	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
44	chr22:29635600-29638600	Weak transcription	Fetal Kidney	kidney

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