Variant report

Variant	esv3398830
Chromosome Location	chr22:33423373-33426595
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	22:32264718-32278135..22:33418971-33427592	Hela-S3	cervix:
2	22:32544939-32549151..22:33418971-33427592	Hela-S3	cervix:
3	22:32764253-32784733..22:33418971-33427592	Hela-S3	cervix:
4	22:32920308-32927723..22:33418971-33427592	Hela-S3	cervix:
5	22:32740683-32750950..22:33418971-33427592	Hela-S3	cervix:

Variant related genes	Relation type
ENSG00000205853	chromatin interactions
ENSG00000241954	chromatin interactions
ENSG00000100150	chromatin interactions
ENSG00000128276	chromatin interactions
ENSG00000232218	chromatin interactions
ENSG00000230736	chromatin interactions
ENSG00000243519	chromatin interactions
ENSG00000185666	chromatin interactions
ENSG00000205856	chromatin interactions

Extended variants
information (count: 127 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:127 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs554617935	chr22:33423379-33423380	Weak transcription Strong transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
2	rs9621619	chr22:33423438-33423439	Weak transcription Strong transcription	Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs113529804	chr22:33423440-33423441	Weak transcription Strong transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
4	rs77884983	chr22:33423463-33423464	Weak transcription Strong transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
5	rs186250195	chr22:33423509-33423510	Weak transcription Strong transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
6	rs35516352	chr22:33423549-33423550	Weak transcription Strong transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
7	rs143577271	chr22:33423553-33423554	Weak transcription Strong transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
8	rs190554397	chr22:33423560-33423561	Weak transcription Strong transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
9	rs113913208	chr22:33423568-33423569	Weak transcription Strong transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
10	rs5998698	chr22:33423590-33423591	Weak transcription Strong transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
11	rs535480745	chr22:33423601-33423602	Weak transcription Strong transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
12	rs5994658	chr22:33423606-33423607	Weak transcription Strong transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
13	rs528657950	chr22:33423617-33423618	Weak transcription Strong transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
14	rs147942260	chr22:33423620-33423621	Weak transcription Strong transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
15	rs150706198	chr22:33423622-33423623	Weak transcription Strong transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
16	rs133969	chr22:33423623-33423624	Weak transcription Strong transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
17	rs112659721	chr22:33423624-33423625	Weak transcription Strong transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
18	rs562165671	chr22:33423626-33423627	Weak transcription Strong transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
19	rs112722789	chr22:33423638-33423639	Weak transcription Strong transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
20	rs555396122	chr22:33423673-33423674	Weak transcription Strong transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
21	rs207477961	chr22:33423689-33423690	Weak transcription Strong transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
22	rs550700868	chr22:33423698-33423699	Weak transcription Strong transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
23	rs186624840	chr22:33423745-33423746	Weak transcription Strong transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
24	rs572418905	chr22:33423787-33423788	Weak transcription Strong transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
25	rs533181723	chr22:33423810-33423811	Weak transcription Strong transcription Enhancers	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
26	rs133970	chr22:33423850-33423851	Weak transcription Strong transcription Enhancers	Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs565848578	chr22:33423859-33423860	Weak transcription Strong transcription Enhancers	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
28	rs116125543	chr22:33423870-33423871	Weak transcription Strong transcription Enhancers	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
29	rs554473645	chr22:33423890-33423891	Weak transcription Strong transcription Enhancers	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
30	rs552860779	chr22:33423908-33423909	Weak transcription Strong transcription Enhancers	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
31	rs148300728	chr22:33423935-33423936	Weak transcription Strong transcription Enhancers	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
32	rs537136388	chr22:33423939-33423940	Weak transcription Strong transcription Enhancers	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
33	rs73162087	chr22:33423997-33423998	Weak transcription Strong transcription Enhancers	Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs141438330	chr22:33424010-33424011	Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
35	rs57190782	chr22:33424011-33424012	Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs35731809	chr22:33424101-33424102	Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
37	rs191021839	chr22:33424102-33424103	Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
38	rs576596011	chr22:33424110-33424111	Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
39	rs573461432	chr22:33424149-33424150	Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
40	rs543575718	chr22:33424156-33424157	Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
41	rs372371894	chr22:33424158-33424159	Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
42	rs562132549	chr22:33424189-33424190	Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
43	rs562869722	chr22:33424209-33424210	Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
44	rs144911964	chr22:33424276-33424277	Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
45	rs199544046	chr22:33424298-33424299	Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
46	rs531043197	chr22:33424358-33424359	Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
47	rs544276564	chr22:33424376-33424377	Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
48	rs564260343	chr22:33424377-33424378	Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
49	rs533119592	chr22:33424378-33424379	Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
50	rs546689851	chr22:33424472-33424473	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:65)

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
Cancer	20164919	CNVD

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:33414800-33430600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr22:33415000-33434200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr22:33417200-33424200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr22:33417400-33430800	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr22:33418400-33430600	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr22:33419200-33424000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr22:33420200-33424000	Strong transcription	HUES48 Cell Line	embryonic stem cell
8	chr22:33420200-33426200	Weak transcription	Right Atrium	heart
9	chr22:33422600-33423800	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr22:33422600-33431000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr22:33422800-33426800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr22:33422800-33427000	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr22:33423000-33427200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr22:33423000-33430600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr22:33423800-33424600	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr22:33423800-33424600	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr22:33424000-33424400	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
18	chr22:33424000-33424400	Enhancers	Brain Angular Gyrus	brain
19	chr22:33424000-33424600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr22:33424000-33424600	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
21	chr22:33424000-33430600	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr22:33424200-33424400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr22:33424200-33424600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr22:33424200-33424600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr22:33424600-33429600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr22:33424600-33430600	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr22:33424600-33430600	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr22:33426200-33426400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr22:33426400-33426800	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
30	chr22:33426400-33427800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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