Variant report

Variant	esv3387325
Chromosome Location	chr22:32777304-32777826
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	JUND	chr22:32777034-32777376	HepG2	liver:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:32774995..32777727-chr22:32778059..32780471,2	K562	blood:
2	chr22:32777217..32780034-chr22:32781911..32784501,3	K562	blood:
3	22:32513817-32522138..22:32764253-32784733	H1-hESC	embryonic stem cell:	embryo
4	22:32529813-32538538..22:32764253-32784733	H1-hESC	embryonic stem cell:	embryo
5	chr22:32774801..32777723-chr22:32782145..32784494,2	MCF-7	breast:
6	22:32360288-32405313..22:32764253-32784733	K562	blood:
7	22:31829733-31836635..22:32764253-32784733	K562	blood:
8	22:31936958-31958600..22:32764253-32784733	K562	blood:

No data

Variant related genes	Relation type
ENSG00000232218	TF binding region
ENSG00000241954	TF binding region
ENSG00000232218	chromatin interactions
ENSG00000214093	chromatin interactions
ENSG00000184708	chromatin interactions
ENSG00000240647	chromatin interactions
ENSG00000232707	chromatin interactions
ENSG00000230866	chromatin interactions
ENSG00000234479	chromatin interactions
ENSG00000241954	chromatin interactions
ENSG00000239674	chromatin interactions

Extended variants
information (count: 24 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558309499	chr22:32777308-32777309	Weak transcription Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
2	rs374796013	chr22:32777320-32777321	Weak transcription Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
3	rs578157077	chr22:32777332-32777333	Weak transcription Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
4	rs118121438	chr22:32777363-32777364	Weak transcription Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
5	rs9619261	chr22:32777364-32777365	Weak transcription Enhancers	TF binding region Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs573173395	chr22:32777380-32777381	Weak transcription Enhancers	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
7	rs367966994	chr22:32777415-32777416	Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
8	rs183662105	chr22:32777425-32777426	Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
9	rs187517620	chr22:32777430-32777431	Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
10	rs11703130	chr22:32777502-32777503	Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
11	rs543886890	chr22:32777507-32777508	Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
12	rs192053992	chr22:32777519-32777520	Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
13	rs532873478	chr22:32777558-32777559	Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
14	rs77002260	chr22:32777568-32777569	Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
15	rs9609519	chr22:32777569-32777570	Weak transcription	Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs184246263	chr22:32777589-32777590	Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
17	rs531157631	chr22:32777644-32777645	Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
18	rs140852268	chr22:32777670-32777671	Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
19	rs143276668	chr22:32777705-32777706	Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
20	rs569132580	chr22:32777707-32777708	Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
21	rs538208449	chr22:32777713-32777714	Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
22	rs145549150	chr22:32777775-32777776	Weak transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
23	rs369910076	chr22:32777784-32777785	Weak transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
24	rs534339315	chr22:32777821-32777822	Weak transcription	Chromatin interactive region	8 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:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:32755800-32781600	Weak transcription	Ovary	ovary
2	chr22:32762800-32788200	Weak transcription	Psoas Muscle	Psoas
3	chr22:32772000-32781200	Weak transcription	Primary T helper cells fromperipheralblood	blood
4	chr22:32772200-32781400	Weak transcription	Fetal Intestine Small	intestine
5	chr22:32772600-32781400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr22:32772800-32780800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr22:32772800-32781400	Weak transcription	Brain Germinal Matrix	brain
8	chr22:32772800-32781600	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr22:32773200-32781400	Weak transcription	Gastric	stomach
10	chr22:32773200-32781400	Weak transcription	Lung	lung
11	chr22:32773800-32781600	Weak transcription	Esophagus	oesophagus
12	chr22:32774000-32782000	Weak transcription	Primary B cells from cord blood	blood
13	chr22:32774400-32781200	Weak transcription	Primary T cells from cord blood	blood
14	chr22:32774400-32781400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr22:32774600-32780800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr22:32775000-32783400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr22:32775200-32781200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr22:32775200-32781200	Weak transcription	Duodenum Mucosa	Duodenum
19	chr22:32775200-32781400	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr22:32775200-32781400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr22:32775200-32781400	Weak transcription	Brain Cingulate Gyrus	brain
22	chr22:32775200-32782000	Weak transcription	HMEC	breast
23	chr22:32775200-32782200	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr22:32775200-32782200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr22:32775200-32782200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr22:32775200-32782400	Weak transcription	Brain Hippocampus Middle	brain
27	chr22:32775200-32782600	Weak transcription	Right Ventricle	heart
28	chr22:32775200-32783200	Weak transcription	HepG2	liver
29	chr22:32775400-32781200	Weak transcription	Fetal Muscle Leg	muscle
30	chr22:32775400-32781400	Weak transcription	Brain Anterior Caudate	brain
31	chr22:32775400-32781400	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr22:32775400-32781400	Weak transcription	Fetal Muscle Trunk	muscle
33	chr22:32775400-32781600	Weak transcription	Brain Angular Gyrus	brain
34	chr22:32775400-32781600	Weak transcription	Brain Substantia Nigra	brain
35	chr22:32775400-32781600	Weak transcription	Spleen	Spleen
36	chr22:32775400-32783000	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr22:32775400-32783400	Weak transcription	K562	blood
38	chr22:32775600-32781200	Weak transcription	Primary B cells from peripheral blood	blood
39	chr22:32775600-32781400	Weak transcription	Adipose Nuclei	Adipose
40	chr22:32775600-32781400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr22:32775600-32781400	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr22:32775600-32783400	Weak transcription	Rectal Smooth Muscle	rectum
43	chr22:32776600-32781400	Weak transcription	Fetal Intestine Large	intestine
44	chr22:32777200-32777400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr22:32777200-32781200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr22:32777200-32793800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
47	chr22:32777400-32781400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr22:32777600-32781200	Weak transcription	Stomach Smooth Muscle	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links