Variant report

Variant	esv1824873
Chromosome Location	chr22:32385406-32403318
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	Cell Stage
1	chr22:32383908..32385591-chr22:32400658..32402581,2	K562	blood:
2	22:32012966-32043914..22:32360288-32405313	K562	blood:
3	chr22:32383908..32385591-chr22:32400658..32402581,2	K562	blood:
4	22:32360288-32405313..22:32868055-32872511	K562	blood:
5	22:32360288-32405313..22:32860159-32865649	K562	blood:
6	22:32360288-32405313..22:32740683-32750950	K562	blood:
7	22:32360288-32405313..22:32764253-32784733	K562	blood:
8	chr22:32386867..32389593-chr22:32389765..32391775,2	MCF-7	breast:
9	chr22:32386867..32389593-chr22:32389765..32391775,2	MCF-7	breast:
10	22:32360288-32405313..22:33452523-33459358	H1-hESC	embryonic stem cell:	embryo
11	22:32360288-32405313..22:32750950-32761732	K562	blood:

No data

Variant related genes	Relation type
ENSG00000232218	chromatin interactions
ENSG00000100225	chromatin interactions
ENSG00000271093	chromatin interactions
ENSG00000243519	chromatin interactions
ENSG00000241954	chromatin interactions
ENSG00000184459	chromatin interactions
ENSG00000230736	chromatin interactions
ENSG00000128276	chromatin interactions
ENSG00000185666	chromatin interactions
ENSG00000205853	chromatin interactions
ENSG00000241878	chromatin interactions

Extended variants
information (count: 673 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:673 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs5753845	chr22:32385473-32385474	Weak transcription Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
2	rs538337355	chr22:32385510-32385511	Weak transcription Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
3	rs558611660	chr22:32385536-32385537	Weak transcription Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
4	rs572090320	chr22:32385542-32385543	Weak transcription Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
5	rs377591522	chr22:32385563-32385564	Weak transcription Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
6	rs540989896	chr22:32385579-32385580	Weak transcription Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
7	rs554908186	chr22:32385586-32385587	Weak transcription Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
8	rs74367624	chr22:32385588-32385589	Weak transcription Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
9	rs67532727	chr22:32385590-32385591	Weak transcription Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
10	rs368749079	chr22:32385591-32385592	Weak transcription Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
11	rs13054212	chr22:32385592-32385593	Weak transcription Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
12	rs373198646	chr22:32385596-32385597	Weak transcription Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
13	rs574643426	chr22:32385618-32385619	Weak transcription Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
14	rs182992267	chr22:32385622-32385623	Weak transcription Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
15	rs5753846	chr22:32385689-32385690	Weak transcription Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
16	rs75188030	chr22:32385764-32385765	Weak transcription Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
17	rs76195409	chr22:32385765-32385766	Weak transcription Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
18	rs11478611	chr22:32385769-32385770	Weak transcription Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
19	rs185823126	chr22:32385776-32385777	Weak transcription Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
20	rs200807538	chr22:32385794-32385795	Weak transcription Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
21	rs543644538	chr22:32385841-32385842	Weak transcription Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
22	rs528077388	chr22:32385875-32385876	Weak transcription Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
23	rs79869595	chr22:32385881-32385882	Weak transcription Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
24	rs370758200	chr22:32385887-32385888	Weak transcription Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
25	rs117565074	chr22:32385890-32385891	Weak transcription Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
26	rs371642789	chr22:32385902-32385903	Weak transcription Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
27	rs545915872	chr22:32385916-32385917	Weak transcription Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
28	rs570902568	chr22:32385920-32385921	Weak transcription Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
29	rs536998447	chr22:32385921-32385922	Weak transcription Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
30	rs559386549	chr22:32385926-32385927	Weak transcription Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
31	rs564439572	chr22:32385934-32385935	Weak transcription Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
32	rs149811050	chr22:32385940-32385941	Weak transcription Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
33	rs71320914	chr22:32385945-32385946	Weak transcription Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
34	rs201197979	chr22:32385946-32385947	Weak transcription Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
35	rs374868337	chr22:32385954-32385955	Weak transcription Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
36	rs550582011	chr22:32385956-32385957	Weak transcription Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
37	rs567490982	chr22:32385967-32385968	Weak transcription Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
38	rs528475945	chr22:32385968-32385969	Weak transcription Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
39	rs11318668	chr22:32386068-32386069	Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
40	rs116800271	chr22:32386127-32386128	Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
41	rs78823952	chr22:32386131-32386132	Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
42	rs570431168	chr22:32386163-32386164	Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
43	rs531100091	chr22:32386256-32386257	Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
44	rs551188325	chr22:32386257-32386258	Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
45	rs570931741	chr22:32386263-32386264	Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
46	rs539992842	chr22:32386277-32386278	Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
47	rs192385505	chr22:32386295-32386296	Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
48	rs5749346	chr22:32386308-32386309	Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
49	rs77167216	chr22:32386313-32386314	Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
50	rs375488785	chr22:32386478-32386479	Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:69)

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	19384346	CNVD
Myelofibrosis	22110671	CNVD
muscular dystrophy type 1D	21248746	CNVD
Leukoplakia	24403051	CNVD
Ovarian neoplasms	16753589	CNVD
Pancreatic cancer	17952125	CNVD
Autism	19492091	CNVD
Breast cancer	22522925	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
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:32382000-32387600	Enhancers	Fetal Intestine Small	intestine
2	chr22:32384200-32386000	Weak transcription	Fetal Intestine Large	intestine
3	chr22:32386000-32387400	Enhancers	Duodenum Mucosa	Duodenum
4	chr22:32386000-32387400	Enhancers	Fetal Intestine Large	intestine
5	chr22:32392800-32393000	Enhancers	Fetal Intestine Small	intestine
6	chr22:32393000-32394000	Weak transcription	Fetal Intestine Small	intestine
7	chr22:32394000-32395400	Enhancers	Fetal Intestine Small	intestine
8	chr22:32394200-32395400	Enhancers	Duodenum Mucosa	Duodenum
9	chr22:32394200-32397000	Enhancers	Thymus	Thymus
10	chr22:32394600-32395400	Enhancers	Fetal Intestine Large	intestine
11	chr22:32394600-32395400	Enhancers	Stomach Mucosa	stomach
12	chr22:32394600-32397400	Enhancers	Fetal Thymus	thymus
13	chr22:32395400-32396600	Weak transcription	Fetal Intestine Large	intestine
14	chr22:32395400-32396600	Weak transcription	Fetal Intestine Small	intestine
15	chr22:32395800-32396800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
16	chr22:32396200-32396800	Enhancers	Placenta Amnion	Placenta Amnion
17	chr22:32396200-32397400	Enhancers	Placenta	Placenta
18	chr22:32396400-32397000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
19	chr22:32396600-32397000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr22:32396600-32397600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr22:32396800-32401200	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr22:32397400-32401200	Weak transcription	Placenta	Placenta
23	chr22:32397600-32400800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr22:32400000-32401000	Weak transcription	Fetal Intestine Large	intestine
25	chr22:32400000-32401000	Weak transcription	Fetal Intestine Small	intestine
26	chr22:32400800-32401000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr22:32401000-32401400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr22:32401000-32402400	Enhancers	Fetal Intestine Large	intestine
29	chr22:32401000-32402600	Enhancers	Fetal Intestine Small	intestine
30	chr22:32401200-32402000	Enhancers	Placenta Amnion	Placenta Amnion
31	chr22:32401200-32402200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr22:32401200-32402200	Enhancers	Placenta	Placenta
33	chr22:32401200-32402200	Enhancers	HMEC	breast
34	chr22:32401400-32401800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr22:32401400-32402000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr22:32401400-32402000	Enhancers	Stomach Mucosa	stomach
37	chr22:32401400-32402200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr22:32401400-32402200	Enhancers	Duodenum Mucosa	Duodenum

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