Variant report

Variant	esv3375680
Chromosome Location	chr22:31671802-31673700
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	chr22:31671882..31674678-chr22:31684555..31687561,3	K562	blood:
2	chr22:31635531..31637522-chr22:31669683..31672388,2	MCF-7	breast:
3	chr22:31670893..31672907-chr22:31673053..31674567,2	K562	blood:
4	chr22:31670705..31674081-chr22:31684491..31687873,4	MCF-7	breast:
5	chr22:31667497..31670495-chr22:31671096..31674566,4	K562	blood:
6	chr22:31670909..31673998-chr22:31741262..31743913,3	MCF-7	breast:
7	chr22:31671882..31673528-chr22:31684555..31686967,2	K562	blood:
8	chr22:31670893..31672907-chr22:31673053..31674567,2	K562	blood:
9	chr22:31657582..31659264-chr22:31672801..31675797,2	MCF-7	breast:
10	chr22:31671853..31673887-chr22:31677470..31679780,2	MCF-7	breast:
11	chr22:31669154..31671048-chr22:31673189..31676176,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000182541	chromatin interactions
ENSG00000100105	chromatin interactions
ENSG00000100100	chromatin interactions
ENSG00000213888	chromatin interactions

Extended variants
information (count: 101 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:101 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs145488149	chr22:31671875-31671876	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs8143159	chr22:31671882-31671883	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs527834985	chr22:31671893-31671894	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs8135344	chr22:31671932-31671933	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs561388564	chr22:31671934-31671935	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs185753449	chr22:31671950-31671951	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs113642120	chr22:31671959-31671960	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs112912602	chr22:31671987-31671988	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs543217259	chr22:31672072-31672073	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs370168269	chr22:31672095-31672096	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs568644729	chr22:31672098-31672099	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs151104179	chr22:31672119-31672120	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs551207261	chr22:31672171-31672172	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs571420880	chr22:31672226-31672227	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs146975020	chr22:31672243-31672244	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs554059777	chr22:31672362-31672363	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs567429549	chr22:31672395-31672396	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs367725713	chr22:31672406-31672407	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs12160390	chr22:31672437-31672438	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs148659786	chr22:31672438-31672439	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs373264216	chr22:31672439-31672440	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs543817289	chr22:31672455-31672456	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs536680494	chr22:31672526-31672527	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs556589784	chr22:31672589-31672590	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs576657863	chr22:31672644-31672645	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs545521642	chr22:31672657-31672658	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs59315359	chr22:31672676-31672677	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs572614998	chr22:31672692-31672693	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs572878229	chr22:31672713-31672714	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs541236463	chr22:31672726-31672727	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs5997933	chr22:31672752-31672753	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs373684120	chr22:31672754-31672755	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs557144192	chr22:31672761-31672762	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs368144712	chr22:31672769-31672770	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs562139586	chr22:31672771-31672772	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs540206607	chr22:31672776-31672777	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs371660726	chr22:31672778-31672779	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs374368003	chr22:31672783-31672784	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs368242418	chr22:31672784-31672785	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs564803165	chr22:31672785-31672786	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs372251693	chr22:31672786-31672787	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs527511401	chr22:31672805-31672806	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs547260740	chr22:31672808-31672809	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs375279810	chr22:31672812-31672813	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs536549332	chr22:31672816-31672817	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs550053263	chr22:31672837-31672838	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs148512669	chr22:31672901-31672902	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs200610273	chr22:31672933-31672934	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs369887567	chr22:31672946-31672947	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs145329401	chr22:31672965-31672966	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:69)

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
Pancreatic cancer	17952125	CNVD
Amyotrophic lateral sclerosis	20858604	CNVD
Breast cancer	22522925	CNVD
Breast cancer	17142309	CNVD
Autism	22543975	CNVD

Chromatin state (count:170 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31645000-31677600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr22:31650200-31675600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr22:31650200-31679200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr22:31650600-31676400	Weak transcription	Hela-S3	cervix
5	chr22:31651800-31675800	Strong transcription	HMEC	breast
6	chr22:31652800-31675800	Strong transcription	NHEK	skin
7	chr22:31652800-31679400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr22:31653800-31676200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr22:31654000-31676400	Strong transcription	Thymus	Thymus
10	chr22:31654000-31680400	Strong transcription	Lung	lung
11	chr22:31654000-31685600	Strong transcription	Fetal Stomach	stomach
12	chr22:31654200-31677200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr22:31654200-31680200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr22:31654200-31680400	Strong transcription	Sigmoid Colon	Sigmoid Colon
15	chr22:31654400-31679600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr22:31655400-31680800	Weak transcription	K562	blood
17	chr22:31656800-31674000	Weak transcription	Brain Angular Gyrus	brain
18	chr22:31657800-31681200	Strong transcription	Adipose Nuclei	Adipose
19	chr22:31659000-31685600	Weak transcription	Psoas Muscle	Psoas
20	chr22:31659400-31678600	Strong transcription	Fetal Muscle Leg	muscle
21	chr22:31661400-31677800	Weak transcription	A549	lung
22	chr22:31661600-31673800	Strong transcription	Fetal Thymus	thymus
23	chr22:31661600-31674200	Strong transcription	Liver	Liver
24	chr22:31661800-31677000	Strong transcription	Spleen	Spleen
25	chr22:31661800-31677600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr22:31663800-31673000	Genic enhancers	Placenta	Placenta
27	chr22:31665600-31679400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr22:31665800-31678800	Strong transcription	Fetal Muscle Trunk	muscle
29	chr22:31666000-31682600	Strong transcription	Skeletal Muscle Female	skeletal muscle
30	chr22:31666000-31684200	Strong transcription	Aorta	Aorta
31	chr22:31666200-31675200	Strong transcription	HUES48 Cell Line	embryonic stem cell
32	chr22:31667000-31676200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
33	chr22:31667000-31676400	Strong transcription	Fetal Lung	lung
34	chr22:31667000-31684600	Weak transcription	Right Atrium	heart
35	chr22:31667200-31672200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
36	chr22:31667400-31672400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
37	chr22:31667400-31676800	Strong transcription	Osteobl	bone
38	chr22:31667400-31677200	Strong transcription	Dnd41	blood
39	chr22:31667600-31672000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr22:31667800-31672000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
41	chr22:31667800-31672000	Genic enhancers	Primary T helper cells fromperipheralblood	blood
42	chr22:31668000-31673400	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
43	chr22:31668000-31675000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr22:31668400-31674000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr22:31668400-31681200	Strong transcription	NHLF	lung
46	chr22:31668600-31674400	Strong transcription	NHDF-Ad	bronchial
47	chr22:31668800-31675400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr22:31668800-31680400	Strong transcription	Duodenum Smooth Muscle	Duodenum
49	chr22:31669000-31672400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr22:31669000-31672400	Strong transcription	Primary B cells from cord blood	blood

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