Variant report

Variant	esv2751963
Chromosome Location	chr22:33855512-33935897
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:33934014..33936443-chr22:33938312..33940235,2	MCF-7	breast:
2	chr17:31001718..31002627-chr22:33884453..33885240,2	MCF-7	breast:
3	chr22:33915114..33915817-chr22:33975164..33976137,2	MCF-7	breast:
4	chr22:33914896..33915863-chr22:33975082..33976024,7	MCF-7	breast:
5	chr22:33904729..33906415-chr22:33911852..33913937,2	K562	blood:
6	chr22:33908671..33911236-chr22:34314506..34317499,3	MCF-7	breast:
7	chr22:33933113..33935485-chr22:33937666..33939783,2	MCF-7	breast:
8	chr22:33904729..33906415-chr22:33911852..33913937,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000133424	chromatin interactions

Extended variants
information (count: 3566 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:3566 , 50 per page) page: 1 2 3 4 5 6 7 ... 72

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7289701	chr22:33855512-33855513	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs528341697	chr22:33855560-33855561	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs548380925	chr22:33855563-33855564	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs568192790	chr22:33855564-33855565	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs530591626	chr22:33855578-33855579	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs550326349	chr22:33855596-33855597	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs528599995	chr22:33855617-33855618	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs112931557	chr22:33855632-33855633	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs570389150	chr22:33855647-33855648	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs551617155	chr22:33855691-33855692	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs539055511	chr22:33855692-33855693	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs141536459	chr22:33855718-33855719	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs184165234	chr22:33855775-33855776	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs535686973	chr22:33855777-33855778	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs34068646	chr22:33855786-33855787	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs555507819	chr22:33855835-33855836	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs530662801	chr22:33855852-33855853	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs575356033	chr22:33855853-33855854	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs190722562	chr22:33855861-33855862	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs550448206	chr22:33855888-33855889	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs566788137	chr22:33855925-33855926	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs578000460	chr22:33855929-33855930	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs540265284	chr22:33856010-33856011	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs559709046	chr22:33856022-33856023	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs528376616	chr22:33856039-33856040	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs542058778	chr22:33856042-33856043	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs561835355	chr22:33856045-33856046	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs530531484	chr22:33856066-33856067	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs78008828	chr22:33856136-33856137	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs192310310	chr22:33856163-33856164	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs532974148	chr22:33856169-33856170	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs546172749	chr22:33856179-33856180	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs79512861	chr22:33856300-33856301	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs2283907	chr22:33856304-33856305	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs373427808	chr22:33856327-33856328	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs535819866	chr22:33856352-33856353	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs566200713	chr22:33856353-33856354	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs552951215	chr22:33856368-33856369	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs369020349	chr22:33856407-33856408	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs376458404	chr22:33856444-33856445	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs569391729	chr22:33856472-33856473	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs538044491	chr22:33856485-33856486	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs139431112	chr22:33856501-33856502	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs371335632	chr22:33856505-33856506	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs201512500	chr22:33856531-33856532	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs538018198	chr22:33856536-33856537	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs150060298	chr22:33856548-33856549	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs558263950	chr22:33856585-33856586	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs143873668	chr22:33856613-33856614	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs116213539	chr22:33856623-33856624	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

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
Breast cancer	22522925	CNVD
Acute lymphoblastic leukemia	21339820	CNVD

Chromatin state (count:1158 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:33828800-33857800	Weak transcription	Primary B cells from peripheral blood	blood
2	chr22:33848600-33857000	Weak transcription	HepG2	liver
3	chr22:33848600-33860800	Weak transcription	Fetal Lung	lung
4	chr22:33850200-33855600	Weak transcription	Fetal Heart	heart
5	chr22:33851400-33855600	Weak transcription	Left Ventricle	heart
6	chr22:33852200-33860800	Weak transcription	Pancreas	Pancrea
7	chr22:33855000-33856200	Enhancers	Gastric	stomach
8	chr22:33855400-33857000	Enhancers	Stomach Mucosa	stomach
9	chr22:33855600-33856200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr22:33855600-33856600	Enhancers	Fetal Heart	heart
11	chr22:33855600-33856800	Enhancers	Right Ventricle	heart
12	chr22:33855600-33857000	Enhancers	Left Ventricle	heart
13	chr22:33855800-33856000	Enhancers	Ovary	ovary
14	chr22:33855800-33857200	Enhancers	Fetal Intestine Small	intestine
15	chr22:33856000-33863200	Weak transcription	Ovary	ovary
16	chr22:33856200-33857200	Enhancers	Fetal Intestine Large	intestine
17	chr22:33856600-33856800	Enhancers	Duodenum Mucosa	Duodenum
18	chr22:33856600-33857000	Flanking Active TSS	Fetal Heart	heart
19	chr22:33856800-33860800	Weak transcription	Right Ventricle	heart
20	chr22:33857000-33857400	Enhancers	Fetal Heart	heart
21	chr22:33857000-33857600	Enhancers	HepG2	liver
22	chr22:33857000-33860800	Weak transcription	Left Ventricle	heart
23	chr22:33857000-33860800	Weak transcription	Psoas Muscle	Psoas
24	chr22:33857000-33872000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr22:33857400-33857800	Weak transcription	Fetal Heart	heart
26	chr22:33857600-33868200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr22:33857800-33858200	ZNF genes & repeats	Fetal Heart	heart
28	chr22:33857800-33858400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
29	chr22:33858200-33860600	Weak transcription	Fetal Heart	heart
30	chr22:33858400-33861200	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr22:33860600-33862200	Enhancers	Fetal Heart	heart
32	chr22:33860800-33861000	Enhancers	Fetal Lung	lung
33	chr22:33860800-33861000	Enhancers	Pancreas	Pancrea
34	chr22:33860800-33861000	Enhancers	Psoas Muscle	Psoas
35	chr22:33860800-33862200	Enhancers	Brain Inferior Temporal Lobe	brain
36	chr22:33860800-33862200	Enhancers	Right Ventricle	heart
37	chr22:33860800-33862400	Enhancers	Skeletal Muscle Female	skeletal muscle
38	chr22:33860800-33864200	Enhancers	Right Atrium	heart
39	chr22:33860800-33864400	Enhancers	Left Ventricle	heart
40	chr22:33861000-33861600	Weak transcription	Pancreas	Pancrea
41	chr22:33861000-33862400	Enhancers	Skeletal Muscle Male	skeletal muscle
42	chr22:33861000-33862600	Enhancers	Adipose Nuclei	Adipose
43	chr22:33861000-33863000	Weak transcription	Fetal Lung	lung
44	chr22:33861000-33863800	Weak transcription	Psoas Muscle	Psoas
45	chr22:33861200-33861400	Enhancers	Rectal Smooth Muscle	rectum
46	chr22:33861200-33861800	Enhancers	Duodenum Smooth Muscle	Duodenum
47	chr22:33861200-33862200	Enhancers	Brain Cingulate Gyrus	brain
48	chr22:33861200-33872200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr22:33861400-33861800	Enhancers	Aorta	Aorta
50	chr22:33861400-33861800	Enhancers	Brain Anterior Caudate	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links