Variant report

Variant	esv3389882
Chromosome Location	chr22:33154777-33157325
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	22:32920308-32927723..22:33154607-33167707	H1-hESC	embryonic stem cell:	embryo
2	22:32594665-32606395..22:33154607-33167707	H1-hESC	embryonic stem cell:	embryo
3	22:33154607-33167707..22:33339333-33353583	Hela-S3	cervix:
4	chr22:33115192..33117854-chr22:33156131..33157646,2	MCF-7	breast:
5	22:32578360-32590642..22:33154607-33167707	K562	blood:
6	22:32764253-32784733..22:33154607-33167707	K562	blood:
7	22:32292186-32294405..22:33154607-33167707	K562	blood:
8	22:33154607-33167707..22:33262063-33266567	Hela-S3	cervix:
9	22:32342898-32343477..22:33154607-33167707	Hela-S3	cervix:
10	22:32053085-32061138..22:33154607-33167707	K562	blood:

No data

Variant related genes	Relation type
ENSG00000230736	chromatin interactions
ENSG00000185666	chromatin interactions
ENSG00000128245	chromatin interactions
ENSG00000241954	chromatin interactions
ENSG00000243519	chromatin interactions
ENSG00000128253	chromatin interactions
ENSG00000232218	chromatin interactions
ENSG00000242082	chromatin interactions
ENSG00000100150	chromatin interactions
ENSG00000205853	chromatin interactions
ENSG00000241878	chromatin interactions
ENSG00000254127	chromatin interactions

Extended variants
information (count: 107 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:107 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538616086	chr22:33154782-33154783	Weak transcription Enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
2	rs558651260	chr22:33154832-33154833	Weak transcription Enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
3	rs572477386	chr22:33154873-33154874	Weak transcription Enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
4	rs28672767	chr22:33154910-33154911	Weak transcription Enhancers	Chromatin interactive region	12 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs182008848	chr22:33154956-33154957	Weak transcription Enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
6	rs1018790	chr22:33154974-33154975	Weak transcription Enhancers	Chromatin interactive region	12 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs1018791	chr22:33155017-33155018	Weak transcription Enhancers	Chromatin interactive region	12 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs1018792	chr22:33155022-33155023	Weak transcription Enhancers	Chromatin interactive region	12 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs531348148	chr22:33155023-33155024	Weak transcription Enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
10	rs551367522	chr22:33155037-33155038	Weak transcription Enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
11	rs73881794	chr22:33155043-33155044	Weak transcription Enhancers	Chromatin interactive region	12 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs141531096	chr22:33155076-33155077	Weak transcription Enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
13	rs376584623	chr22:33155077-33155078	Weak transcription Enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
14	rs547467049	chr22:33155078-33155079	Weak transcription Enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
15	rs186238774	chr22:33155096-33155097	Weak transcription Enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
16	rs547229126	chr22:33155097-33155098	Weak transcription Enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
17	rs150867666	chr22:33155112-33155113	Weak transcription Enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
18	rs5754255	chr22:33155146-33155147	Weak transcription Enhancers	Chromatin interactive region	12 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs117340739	chr22:33155161-33155162	Weak transcription Enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
20	rs538927270	chr22:33155184-33155185	Weak transcription Enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
21	rs552018176	chr22:33155191-33155192	Weak transcription Enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
22	rs190508330	chr22:33155205-33155206	Weak transcription Enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
23	rs534850871	chr22:33155211-33155212	Weak transcription Enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
24	rs554998894	chr22:33155212-33155213	Weak transcription Enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
25	rs139761514	chr22:33155232-33155233	Weak transcription Enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
26	rs143112438	chr22:33155245-33155246	Weak transcription Enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
27	rs556518498	chr22:33155246-33155247	Weak transcription Enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
28	rs146150565	chr22:33155277-33155278	Weak transcription Enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
29	rs545306590	chr22:33155319-33155320	Weak transcription Enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
30	rs183251127	chr22:33155375-33155376	Weak transcription Enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
31	rs370999749	chr22:33155399-33155400	Weak transcription Enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
32	rs527240852	chr22:33155458-33155459	Weak transcription Enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
33	rs112653744	chr22:33155485-33155486	Weak transcription Enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
34	rs540778505	chr22:33155514-33155515	Weak transcription Enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
35	rs72487604	chr22:33155555-33155556	Weak transcription Enhancers	Chromatin interactive region	12 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs113212306	chr22:33155561-33155562	Weak transcription Enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
37	rs113248764	chr22:33155599-33155600	Weak transcription Enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
38	rs111673664	chr22:33155633-33155634	Weak transcription Enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
39	rs532948753	chr22:33155643-33155644	Weak transcription Enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
40	rs116740099	chr22:33155651-33155652	Weak transcription Enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
41	rs139831472	chr22:33155659-33155660	Weak transcription Enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
42	rs569901701	chr22:33155679-33155680	Weak transcription Enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
43	rs186613961	chr22:33155705-33155706	Weak transcription Enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
44	rs532710233	chr22:33155720-33155721	Weak transcription Enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
45	rs191057849	chr22:33155753-33155754	Weak transcription Enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
46	rs149661065	chr22:33155759-33155760	Weak transcription Enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
47	rs145524868	chr22:33155763-33155764	Weak transcription Enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
48	rs187949312	chr22:33155897-33155898	Weak transcription Enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
49	rs183174225	chr22:33155905-33155906	Weak transcription Enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
50	rs576979515	chr22:33155911-33155912	Weak transcription Enhancers	Chromatin interactive region	12 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:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:33149200-33157200	Weak transcription	NHLF	lung
2	chr22:33149400-33156600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr22:33149400-33157400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr22:33149600-33156400	Weak transcription	Placenta	Placenta
5	chr22:33149600-33157000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr22:33150800-33155000	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr22:33151000-33156600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr22:33151000-33156600	Weak transcription	Fetal Stomach	stomach
9	chr22:33151000-33158000	Weak transcription	Right Ventricle	heart
10	chr22:33151000-33175400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr22:33151200-33154800	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr22:33151200-33154800	Weak transcription	HSMMtube	muscle
13	chr22:33151200-33155000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr22:33151200-33156200	Weak transcription	Lung	lung
15	chr22:33151200-33156400	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr22:33151200-33156400	Weak transcription	Osteobl	bone
17	chr22:33151200-33156600	Weak transcription	Fetal Muscle Trunk	muscle
18	chr22:33151200-33157000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr22:33151200-33157000	Weak transcription	NH-A	brain
20	chr22:33151400-33154800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr22:33151400-33155000	Weak transcription	NHDF-Ad	bronchial
22	chr22:33151400-33156400	Weak transcription	Fetal Muscle Leg	muscle
23	chr22:33151400-33156400	Weak transcription	Spleen	Spleen
24	chr22:33151600-33154800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr22:33151600-33154800	Weak transcription	Adipose Nuclei	Adipose
26	chr22:33151600-33156200	Weak transcription	Hela-S3	cervix
27	chr22:33151600-33156400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr22:33151600-33156400	Weak transcription	Psoas Muscle	Psoas
29	chr22:33151800-33155000	Weak transcription	Right Atrium	heart
30	chr22:33151800-33156200	Weak transcription	Left Ventricle	heart
31	chr22:33152800-33158000	Weak transcription	Pancreas	Pancrea
32	chr22:33153600-33156600	Weak transcription	HepG2	liver
33	chr22:33153800-33156400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr22:33154000-33156400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr22:33154000-33156800	Weak transcription	Fetal Thymus	thymus
36	chr22:33154400-33157800	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr22:33154600-33156400	Enhancers	HSMM	muscle
38	chr22:33154800-33155200	Enhancers	Adipose Nuclei	Adipose
39	chr22:33154800-33155400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr22:33154800-33155400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr22:33154800-33155400	Enhancers	Muscle Satellite Cultured Cells	--
42	chr22:33154800-33155800	Enhancers	HSMMtube	muscle
43	chr22:33155000-33155400	Enhancers	NHDF-Ad	bronchial
44	chr22:33155000-33155800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr22:33155000-33161400	Enhancers	Right Atrium	heart
46	chr22:33155200-33155400	Enhancers	Placenta Amnion	Placenta Amnion
47	chr22:33155200-33156200	Weak transcription	Adipose Nuclei	Adipose
48	chr22:33155400-33156400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr22:33155400-33156400	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr22:33155400-33156800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links