Variant report

Variant	nsv9897
Chromosome Location	chr22:31860213-31864142
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	22:31861680-31864703..22:33339333-33353583	K562	blood:
2	22:31861680-31864703..22:31978142-31983723	GM12878	blood:
3	chr22:31862991..31864545-chr22:31885430..31887272,2	MCF-7	breast:
4	22:31861680-31864703..22:32012966-32043914	GM12878	blood:
5	chr22:31853776..31856046-chr22:31858521..31860568,2	MCF-7	breast:
6	22:31861680-31864703..22:31961151-31976153	K562	blood:
7	chr22:31838625..31840945-chr22:31858613..31860728,2	MCF-7	breast:
8	22:31861680-31864703..22:32750950-32761732	K562	blood:
9	chr22:31855754..31858470-chr22:31860369..31863363,2	K562	blood:
10	22:31803954-31807204..22:31861680-31864703	GM12878	blood:
11	22:31836635-31847259..22:31861680-31864703	K562	blood:

No data

Variant related genes	Relation type
ENSG00000198089	chromatin interactions
ENSG00000224623	chromatin interactions
ENSG00000184708	chromatin interactions
ENSG00000205853	chromatin interactions
ENSG00000241878	chromatin interactions
ENSG00000185666	chromatin interactions
ENSG00000271093	chromatin interactions
ENSG00000128276	chromatin interactions

Extended variants
information (count: 163 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:163 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs541044386	chr22:31860244-31860245	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs73398220	chr22:31860278-31860279	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs12159050	chr22:31860315-31860316	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs12159051	chr22:31860317-31860318	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs5753628	chr22:31860322-31860323	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs544104425	chr22:31860326-31860327	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs12159077	chr22:31860375-31860376	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs563845635	chr22:31860405-31860406	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs371333596	chr22:31860443-31860444	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs544600771	chr22:31860579-31860580	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs11913573	chr22:31860583-31860584	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs5753629	chr22:31860641-31860642	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs3068278	chr22:31860682-31860683	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs5997994	chr22:31860685-31860686	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs60642360	chr22:31860686-31860687	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs9653825	chr22:31860687-31860688	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs13058715	chr22:31860689-31860690	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs371905089	chr22:31860691-31860692	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs4820973	chr22:31860712-31860713	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs547071775	chr22:31860797-31860798	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs192754483	chr22:31860910-31860911	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs11913621	chr22:31860941-31860942	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs536112473	chr22:31860944-31860945	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs531973626	chr22:31860964-31860965	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs138039946	chr22:31860981-31860982	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs142623245	chr22:31860983-31860984	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs538428807	chr22:31861041-31861042	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs146031179	chr22:31861047-31861048	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs572444628	chr22:31861061-31861062	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs535159891	chr22:31861072-31861073	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs182754913	chr22:31861139-31861140	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs9621265	chr22:31861203-31861204	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs544096716	chr22:31861208-31861209	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs187727353	chr22:31861210-31861211	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs368348690	chr22:31861224-31861225	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs546417179	chr22:31861233-31861234	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs560032319	chr22:31861240-31861241	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs527358179	chr22:31861278-31861279	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs79539942	chr22:31861309-31861310	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs544872114	chr22:31861310-31861311	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs77153944	chr22:31861311-31861312	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs547475055	chr22:31861327-31861328	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs560695350	chr22:31861359-31861360	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs529706680	chr22:31861366-31861367	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs116673566	chr22:31861393-31861394	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs569590068	chr22:31861401-31861402	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs538595265	chr22:31861416-31861417	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs149992405	chr22:31861471-31861472	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs565875744	chr22:31861518-31861519	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs534760526	chr22:31861521-31861522	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:66)

Disease	PMID	Source
Hodgkin''s lymphoma	18641027	CNVD
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
Autism	22543975	CNVD

Chromatin state (count:243 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31797000-31884400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr22:31797000-31884400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr22:31797200-31860600	Strong transcription	Fetal Stomach	stomach
4	chr22:31815000-31868200	Strong transcription	Dnd41	blood
5	chr22:31815000-31883400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr22:31823600-31884600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr22:31832600-31867800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr22:31836200-31873600	Weak transcription	Stomach Mucosa	stomach
9	chr22:31845800-31860400	Strong transcription	Primary T cells from cord blood	blood
10	chr22:31846000-31865800	Strong transcription	Rectal Mucosa Donor 31	rectum
11	chr22:31846400-31872000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
12	chr22:31847600-31860400	Strong transcription	Fetal Intestine Large	intestine
13	chr22:31847600-31881800	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr22:31847800-31860400	Strong transcription	Primary B cells from cord blood	blood
15	chr22:31847800-31868200	Strong transcription	Primary monocytes fromperipheralblood	blood
16	chr22:31848000-31865600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr22:31848000-31867400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr22:31848000-31868000	Strong transcription	Primary T helper cells PMA-I stimulated	--
19	chr22:31848000-31868400	Strong transcription	HUES64 Cell Line	embryonic stem cell
20	chr22:31848200-31860400	Strong transcription	Liver	Liver
21	chr22:31848200-31860400	Strong transcription	Duodenum Mucosa	Duodenum
22	chr22:31848200-31860400	Strong transcription	Rectal Mucosa Donor 29	rectum
23	chr22:31848200-31865800	Strong transcription	HUES6 Cell Line	embryonic stem cell
24	chr22:31848200-31867600	Strong transcription	Primary T cells fromperipheralblood	blood
25	chr22:31848200-31867800	Strong transcription	Primary B cells from peripheral blood	blood
26	chr22:31848200-31868200	Strong transcription	HUES48 Cell Line	embryonic stem cell
27	chr22:31848200-31868400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr22:31848400-31860400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr22:31848400-31860400	Strong transcription	Primary T helper cells fromperipheralblood	blood
30	chr22:31848400-31860400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr22:31848400-31860400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr22:31848400-31860400	Strong transcription	Duodenum Smooth Muscle	Duodenum
33	chr22:31848600-31867400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr22:31848600-31868000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr22:31848600-31868400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr22:31848800-31883000	Weak transcription	Fetal Heart	heart
37	chr22:31849000-31860400	Strong transcription	HSMM	muscle
38	chr22:31849000-31867600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr22:31849200-31860400	Strong transcription	Osteobl	bone
40	chr22:31849400-31867600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr22:31849800-31860400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
42	chr22:31850000-31860400	Strong transcription	HepG2	liver
43	chr22:31850200-31871400	Strong transcription	GM12878-XiMat	blood
44	chr22:31850800-31876800	Weak transcription	Esophagus	oesophagus
45	chr22:31852200-31862000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr22:31853400-31860400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr22:31853800-31860400	Strong transcription	Fetal Lung	lung
48	chr22:31854200-31861800	Strong transcription	Fetal Thymus	thymus
49	chr22:31854200-31868200	Strong transcription	Fetal Muscle Trunk	muscle
50	chr22:31854400-31860400	Strong transcription	Primary neutrophils fromperipheralblood	blood

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