Variant report

Variant	esv3348166
Chromosome Location	chr22:32048760-32049074
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	22:32043914-32050710..22:32860159-32865649	K562	blood:
2	22:32043914-32050710..22:32764253-32784733	K562	blood:
3	22:32043914-32050710..22:32342898-32343477	GM12878	blood:
4	22:32043914-32050710..22:32264718-32278135	K562	blood:
5	chr22:32043778..32046511-chr22:32048746..32051348,2	K562	blood:
6	chr22:32047013..32049152-chr22:32054877..32056395,2	K562	blood:
7	22:32043914-32050710..22:32802848-32805157	GM12878	blood:
8	chr22:32045934..32049849-chr22:32055772..32058476,7	MCF-7	breast:
9	chr22:32044261..32046374-chr22:32048102..32050237,2	K562	blood:
10	chr22:32043853..32046327-chr22:32047521..32049441,2	MCF-7	breast:
11	22:32043914-32050710..22:32338420-32342898	K562	blood:
12	22:31864703-31891033..22:32043914-32050710	GM12878	blood:

No data

Variant related genes	Relation type
ENSG00000230736	chromatin interactions
ENSG00000128245	chromatin interactions
ENSG00000199248	chromatin interactions
ENSG00000198089	chromatin interactions
ENSG00000100150	chromatin interactions
ENSG00000184459	chromatin interactions
ENSG00000232218	chromatin interactions
ENSG00000205853	chromatin interactions
ENSG00000128254	chromatin interactions
ENSG00000243519	chromatin interactions
ENSG00000241878	chromatin interactions
ENSG00000241954	chromatin interactions
ENSG00000184708	chromatin interactions
ENSG00000100220	chromatin interactions

Extended variants
information (count: 17 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572076374	chr22:32048819-32048820	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
2	rs113760093	chr22:32048846-32048847	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
3	rs534721608	chr22:32048857-32048858	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
4	rs554797359	chr22:32048880-32048881	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
5	rs574803503	chr22:32048882-32048883	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
6	rs5753744	chr22:32048905-32048906	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
7	rs62239173	chr22:32048949-32048950	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
8	rs148153540	chr22:32048974-32048975	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
9	rs576038772	chr22:32048981-32048982	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
10	rs545052248	chr22:32048991-32048992	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
11	rs373581241	chr22:32049009-32049010	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
12	rs61151238	chr22:32049020-32049021	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	14 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs36011234	chr22:32049024-32049025	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
14	rs541035213	chr22:32049037-32049038	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
15	rs546684480	chr22:32049038-32049039	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
16	rs60910622	chr22:32049044-32049045	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
17	rs530051306	chr22:32049057-32049058	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	14 gene(s)	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
Acute myeloid leukemia	20729466	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
Acute myeloid leukemia	21251322	CNVD
Endometrioid adenocarcinoma	16974079	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	17322880	CNVD
Breast cancer	20409316	CNVD
Neurofibromatosis type 2	19566914	CNVD
Autism	19384346	CNVD
Myelofibrosis	22110671	CNVD
muscular dystrophy type 1D	21248746	CNVD
Leukoplakia	24403051	CNVD
Ovarian neoplasms	16753589	CNVD
Breast cancer	17142309	CNVD
Pancreatic cancer	17952125	CNVD
Autism	19492091	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:32034400-32056400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr22:32036400-32050000	Weak transcription	Esophagus	oesophagus
3	chr22:32036400-32056400	Weak transcription	Colonic Mucosa	Colon
4	chr22:32037600-32050000	Weak transcription	Psoas Muscle	Psoas
5	chr22:32041400-32056400	Weak transcription	Ovary	ovary
6	chr22:32041600-32057400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr22:32042800-32057000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr22:32043000-32057000	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr22:32043400-32049200	Weak transcription	K562	blood
10	chr22:32043800-32056600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr22:32044000-32056200	Weak transcription	Fetal Heart	heart
12	chr22:32044000-32056800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr22:32044200-32049200	Weak transcription	Stomach Mucosa	stomach
14	chr22:32044200-32049400	Weak transcription	Brain Substantia Nigra	brain
15	chr22:32044200-32050000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr22:32044200-32056400	Weak transcription	Brain Cingulate Gyrus	brain
17	chr22:32044200-32056400	Weak transcription	Fetal Brain Male	brain
18	chr22:32044200-32057000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr22:32044200-32057000	Weak transcription	Fetal Kidney	kidney
20	chr22:32044400-32049200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr22:32044400-32050400	Weak transcription	Spleen	Spleen
22	chr22:32044400-32056400	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr22:32044400-32056400	Weak transcription	Lung	lung
24	chr22:32044400-32057000	Weak transcription	HSMMtube	muscle
25	chr22:32044600-32056600	Weak transcription	HUVEC	blood vessel
26	chr22:32045000-32056400	Weak transcription	Brain Hippocampus Middle	brain
27	chr22:32045000-32057200	Weak transcription	Thymus	Thymus
28	chr22:32045200-32050000	Weak transcription	Gastric	stomach
29	chr22:32045200-32054000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr22:32045200-32056400	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr22:32045200-32057000	Weak transcription	Colon Smooth Muscle	Colon
32	chr22:32045200-32057200	Weak transcription	Aorta	Aorta
33	chr22:32045400-32050800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr22:32045400-32056400	Weak transcription	Brain Germinal Matrix	brain
35	chr22:32045400-32056400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr22:32045400-32056600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr22:32045400-32057000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr22:32045400-32057000	Weak transcription	Fetal Lung	lung
39	chr22:32045600-32057000	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr22:32046000-32049200	Weak transcription	Brain Anterior Caudate	brain
41	chr22:32046000-32055800	Weak transcription	Dnd41	blood
42	chr22:32046000-32056400	Weak transcription	Rectal Smooth Muscle	rectum
43	chr22:32046000-32056600	Weak transcription	Primary B cells from cord blood	blood
44	chr22:32046000-32057000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr22:32046000-32057200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr22:32046200-32049200	Weak transcription	Brain Angular Gyrus	brain
47	chr22:32046200-32049600	Weak transcription	Pancreas	Pancrea
48	chr22:32046200-32050000	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr22:32046200-32056400	Weak transcription	Liver	Liver
50	chr22:32046200-32056600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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