Variant report

Variant	esv3322293
Chromosome Location	chr22:33155302-33156750
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	22:33154607-33167707..22:33262063-33266567	Hela-S3	cervix:
3	22:32594665-32606395..22:33154607-33167707	H1-hESC	embryonic stem cell:	embryo
4	22:32342898-32343477..22:33154607-33167707	Hela-S3	cervix:
5	22:32764253-32784733..22:33154607-33167707	K562	blood:
6	22:33154607-33167707..22:33339333-33353583	Hela-S3	cervix:
7	22:32578360-32590642..22:33154607-33167707	K562	blood:
8	22:32292186-32294405..22:33154607-33167707	K562	blood:
9	22:32053085-32061138..22:33154607-33167707	K562	blood:
10	chr22:33115192..33117854-chr22:33156131..33157646,2	MCF-7	breast:

No data

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

Extended variants
information (count: 54 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:54 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs545306590	chr22:33155319-33155320	Weak transcription Enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
2	rs183251127	chr22:33155375-33155376	Weak transcription Enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
3	rs370999749	chr22:33155399-33155400	Weak transcription Enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
4	rs527240852	chr22:33155458-33155459	Weak transcription Enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
5	rs112653744	chr22:33155485-33155486	Weak transcription Enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
6	rs540778505	chr22:33155514-33155515	Weak transcription Enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
7	rs72487604	chr22:33155555-33155556	Weak transcription Enhancers	Chromatin interactive region	12 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs113212306	chr22:33155561-33155562	Weak transcription Enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
9	rs113248764	chr22:33155599-33155600	Weak transcription Enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
10	rs111673664	chr22:33155633-33155634	Weak transcription Enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
11	rs532948753	chr22:33155643-33155644	Weak transcription Enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
12	rs116740099	chr22:33155651-33155652	Weak transcription Enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
13	rs139831472	chr22:33155659-33155660	Weak transcription Enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
14	rs569901701	chr22:33155679-33155680	Weak transcription Enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
15	rs186613961	chr22:33155705-33155706	Weak transcription Enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
16	rs532710233	chr22:33155720-33155721	Weak transcription Enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
17	rs191057849	chr22:33155753-33155754	Weak transcription Enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
18	rs149661065	chr22:33155759-33155760	Weak transcription Enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
19	rs145524868	chr22:33155763-33155764	Weak transcription Enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
20	rs187949312	chr22:33155897-33155898	Weak transcription Enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
21	rs183174225	chr22:33155905-33155906	Weak transcription Enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
22	rs576979515	chr22:33155911-33155912	Weak transcription Enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
23	rs145441559	chr22:33155938-33155939	Weak transcription Enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
24	rs191402504	chr22:33155968-33155969	Weak transcription Enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
25	rs183567949	chr22:33156010-33156011	Weak transcription Enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
26	rs565942059	chr22:33156166-33156167	Weak transcription Enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
27	rs28496892	chr22:33156201-33156202	Weak transcription Enhancers	Chromatin interactive region	12 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs5998622	chr22:33156214-33156215	Weak transcription Enhancers	Chromatin interactive region	12 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs568512979	chr22:33156239-33156240	Weak transcription Enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
30	rs537520060	chr22:33156247-33156248	Weak transcription Enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
31	rs374831520	chr22:33156294-33156295	Weak transcription Enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
32	rs4821095	chr22:33156302-33156303	Weak transcription Enhancers	Chromatin interactive region	12 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs73156468	chr22:33156343-33156344	Weak transcription Enhancers	Chromatin interactive region	12 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs545325610	chr22:33156389-33156390	Weak transcription Enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
35	rs148418138	chr22:33156436-33156437	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
36	rs4821096	chr22:33156506-33156507	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	12 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs571962689	chr22:33156509-33156510	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
38	rs375047989	chr22:33156529-33156530	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
39	rs187709479	chr22:33156536-33156537	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
40	rs193165193	chr22:33156537-33156538	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
41	rs542842959	chr22:33156543-33156544	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
42	rs529775875	chr22:33156565-33156566	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
43	rs543105798	chr22:33156579-33156580	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
44	rs7289956	chr22:33156605-33156606	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	12 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs532520397	chr22:33156650-33156651	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
46	rs540587942	chr22:33156656-33156657	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
47	rs143623677	chr22:33156659-33156660	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
48	rs552601134	chr22:33156661-33156662	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
49	rs560826398	chr22:33156679-33156680	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
50	rs531812813	chr22:33156701-33156702	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	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:82 , 50 per page) page: 1 2

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	chr22:33151000-33156600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr22:33151000-33156600	Weak transcription	Fetal Stomach	stomach
8	chr22:33151000-33158000	Weak transcription	Right Ventricle	heart
9	chr22:33151000-33175400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr22:33151200-33156200	Weak transcription	Lung	lung
11	chr22:33151200-33156400	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr22:33151200-33156400	Weak transcription	Osteobl	bone
13	chr22:33151200-33156600	Weak transcription	Fetal Muscle Trunk	muscle
14	chr22:33151200-33157000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr22:33151200-33157000	Weak transcription	NH-A	brain
16	chr22:33151400-33156400	Weak transcription	Fetal Muscle Leg	muscle
17	chr22:33151400-33156400	Weak transcription	Spleen	Spleen
18	chr22:33151600-33156200	Weak transcription	Hela-S3	cervix
19	chr22:33151600-33156400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr22:33151600-33156400	Weak transcription	Psoas Muscle	Psoas
21	chr22:33151800-33156200	Weak transcription	Left Ventricle	heart
22	chr22:33152800-33158000	Weak transcription	Pancreas	Pancrea
23	chr22:33153600-33156600	Weak transcription	HepG2	liver
24	chr22:33153800-33156400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr22:33154000-33156400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr22:33154000-33156800	Weak transcription	Fetal Thymus	thymus
27	chr22:33154400-33157800	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr22:33154600-33156400	Enhancers	HSMM	muscle
29	chr22:33154800-33155400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr22:33154800-33155400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr22:33154800-33155400	Enhancers	Muscle Satellite Cultured Cells	--
32	chr22:33154800-33155800	Enhancers	HSMMtube	muscle
33	chr22:33155000-33155400	Enhancers	NHDF-Ad	bronchial
34	chr22:33155000-33155800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr22:33155000-33161400	Enhancers	Right Atrium	heart
36	chr22:33155200-33155400	Enhancers	Placenta Amnion	Placenta Amnion
37	chr22:33155200-33156200	Weak transcription	Adipose Nuclei	Adipose
38	chr22:33155400-33156400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr22:33155400-33156400	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr22:33155400-33156800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr22:33155400-33157000	Weak transcription	NHDF-Ad	bronchial
42	chr22:33155600-33156600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr22:33155800-33156200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr22:33155800-33156200	Weak transcription	HSMMtube	muscle
45	chr22:33156200-33156400	Enhancers	Brain Hippocampus Middle	brain
46	chr22:33156200-33156800	Enhancers	Brain Anterior Caudate	brain
47	chr22:33156200-33156800	Enhancers	Hela-S3	cervix
48	chr22:33156200-33158800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr22:33156200-33158800	Enhancers	Left Ventricle	heart
50	chr22:33156200-33158800	Enhancers	Lung	lung

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