Variant report

Variant	nsv588898
Chromosome Location	chr22:33746624-33776430
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:33770626..33773440-chr22:33777171..33779247,2	K562	blood:
2	chr22:33754382..33757295-chr22:33782383..33785035,2	K562	blood:
3	chr22:33746224..33749139-chr22:33750199..33751846,2	MCF-7	breast:
4	chr14:51706606..51707166-chr22:33757749..33758269,2	MCF-7	breast:
5	chr22:33746224..33749139-chr22:33750199..33751846,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000139921	chromatin interactions

Extended variants
information (count: 1236 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:1236 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17723309	chr22:33746624-33746625	ZNF genes & repeats Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs2267194	chr22:33746632-33746633	ZNF genes & repeats Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs568809340	chr22:33746643-33746644	ZNF genes & repeats Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs532690251	chr22:33746680-33746681	ZNF genes & repeats Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs148344871	chr22:33746691-33746692	ZNF genes & repeats Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs8142023	chr22:33746706-33746707	ZNF genes & repeats Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs114482355	chr22:33746723-33746724	ZNF genes & repeats Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs553084419	chr22:33746724-33746725	ZNF genes & repeats Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs78619740	chr22:33746769-33746770	ZNF genes & repeats Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs374737052	chr22:33746878-33746879	Strong transcription Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs371188859	chr22:33746916-33746917	Strong transcription Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs541867636	chr22:33746939-33746940	Strong transcription Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs141600163	chr22:33746984-33746985	Strong transcription Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs574636657	chr22:33747016-33747017	Strong transcription Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs543357918	chr22:33747020-33747021	Strong transcription Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs56100989	chr22:33747028-33747029	Strong transcription Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs532226238	chr22:33747030-33747031	Strong transcription Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs565745567	chr22:33747065-33747066	Strong transcription Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs545871378	chr22:33747086-33747087	Strong transcription Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs116485633	chr22:33747111-33747112	Strong transcription Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs189629172	chr22:33747151-33747152	Strong transcription Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs5754532	chr22:33747168-33747169	Strong transcription Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs116085969	chr22:33747200-33747201	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs374933644	chr22:33747220-33747221	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs116301379	chr22:33747221-33747222	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs568064276	chr22:33747229-33747230	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs531206927	chr22:33747318-33747319	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs551006008	chr22:33747331-33747332	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs150902858	chr22:33747335-33747336	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs539673509	chr22:33747348-33747349	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs73166252	chr22:33747356-33747357	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs115479740	chr22:33747388-33747389	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs575106089	chr22:33747408-33747409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs555297166	chr22:33747531-33747532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs180838041	chr22:33747591-33747592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs201719291	chr22:33747619-33747620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs543671031	chr22:33747626-33747627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs557010945	chr22:33747643-33747644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs142304055	chr22:33747646-33747647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs546058524	chr22:33747692-33747693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs187579280	chr22:33747730-33747731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs60911479	chr22:33747742-33747743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs398036946	chr22:33747755-33747756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs528143921	chr22:33747809-33747810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs190311940	chr22:33747811-33747812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs145976718	chr22:33747850-33747851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs566206426	chr22:33747871-33747872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs530457046	chr22:33747874-33747875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs551233531	chr22:33747897-33747898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs532109671	chr22:33747913-33747914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
Prostate cancer	22341455	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:234 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:33696200-33748000	Weak transcription	Fetal Lung	lung
2	chr22:33723800-33751200	Weak transcription	Aorta	Aorta
3	chr22:33725600-33749600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr22:33727200-33757800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr22:33731400-33773400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr22:33731400-33779800	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr22:33732200-33751000	Weak transcription	Fetal Brain Male	brain
8	chr22:33732600-33760600	Weak transcription	Right Ventricle	heart
9	chr22:33732800-33750400	Weak transcription	Liver	Liver
10	chr22:33733800-33746800	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr22:33733800-33751200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr22:33733800-33754000	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr22:33733800-33757600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr22:33734000-33754000	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr22:33734000-33777800	Weak transcription	Pancreas	Pancrea
16	chr22:33734400-33757400	Weak transcription	Gastric	stomach
17	chr22:33734600-33757400	Weak transcription	Primary B cells from peripheral blood	blood
18	chr22:33734600-33760600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr22:33734800-33750600	Weak transcription	Spleen	Spleen
20	chr22:33735600-33754400	Weak transcription	Ovary	ovary
21	chr22:33738000-33776800	Weak transcription	Stomach Smooth Muscle	stomach
22	chr22:33742200-33749000	Weak transcription	Fetal Heart	heart
23	chr22:33745000-33746800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
24	chr22:33745400-33747400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr22:33746000-33747400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr22:33746000-33747400	Enhancers	HMEC	breast
27	chr22:33746200-33747200	Strong transcription	HUES64 Cell Line	embryonic stem cell
28	chr22:33746400-33746800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr22:33746400-33746800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
30	chr22:33746400-33746800	ZNF genes & repeats	Fetal Intestine Small	intestine
31	chr22:33746400-33747000	Strong transcription	Fetal Stomach	stomach
32	chr22:33746400-33747200	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr22:33746400-33747200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr22:33746400-33747400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr22:33746400-33747400	Enhancers	NHEK	skin
36	chr22:33746400-33759000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr22:33746600-33746800	ZNF genes & repeats	Fetal Intestine Large	intestine
38	chr22:33746600-33747000	Enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr22:33746600-33747200	Strong transcription	Left Ventricle	heart
40	chr22:33746600-33747400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr22:33746600-33747400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr22:33746800-33747200	Strong transcription	Fetal Intestine Large	intestine
43	chr22:33746800-33747400	Strong transcription	H1 Cell Line	embryonic stem cell
44	chr22:33746800-33747400	Strong transcription	HUES6 Cell Line	embryonic stem cell
45	chr22:33746800-33757800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr22:33746800-33761400	Weak transcription	Fetal Intestine Small	intestine
47	chr22:33747000-33754800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
48	chr22:33747000-33756400	Weak transcription	Fetal Stomach	stomach
49	chr22:33747200-33747400	Genic enhancers	Left Ventricle	heart
50	chr22:33747200-33748200	Weak transcription	Fetal Intestine Large	intestine

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