Variant report

Variant	esv3328609
Chromosome Location	chr22:29533405-29533725
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:29500096..29501834-chr22:29533331..29535067,2	K562	blood:
2	chr22:29195860..29197885-chr22:29533166..29536024,2	K562	blood:

Variant related genes	Relation type
ENSG00000100219	chromatin interactions
ENSG00000226471	chromatin interactions

Extended variants
information (count: 32 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:32 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs571815008	chr22:29533411-29533412	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs61752343	chr22:29533437-29533438	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs553706264	chr22:29533444-29533445	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs199636884	chr22:29533445-29533446	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs138145406	chr22:29533449-29533450	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs202038443	chr22:29533486-29533487	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs374568974	chr22:29533493-29533494	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs201849592	chr22:29533495-29533496	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs536716246	chr22:29533496-29533497	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs35612970	chr22:29533499-29533500	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs374008521	chr22:29533512-29533513	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs576165604	chr22:29533522-29533523	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs543288387	chr22:29533533-29533534	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs146915661	chr22:29533536-29533537	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs201889157	chr22:29533551-29533552	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs74467980	chr22:29533553-29533554	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs375016838	chr22:29533570-29533571	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs34920087	chr22:29533572-29533573	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs534366971	chr22:29533576-29533577	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs529670637	chr22:29533582-29533583	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs372733286	chr22:29533583-29533584	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs377280163	chr22:29533598-29533599	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs368784851	chr22:29533599-29533600	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs78986506	chr22:29533602-29533603	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs376600397	chr22:29533621-29533622	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs375620412	chr22:29533634-29533635	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs553505354	chr22:29533640-29533641	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs187815593	chr22:29533641-29533642	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs369317121	chr22:29533683-29533684	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs148375964	chr22:29533687-29533688	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs114157586	chr22:29533703-29533704	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs546693205	chr22:29533704-29533705	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:68)

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
Myelodysplastic syndrome	21251322	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
low-grade B-cell lymphoma tumor	18367492	CNVD
Medullary thyroid carcinoma	18765511	CNVD
Lung cancer	18438408	CNVD
Pancreatic endocrine tumor	17639061	CNVD
abnormal development	18461090	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
small cell lung cancer	20016488	CNVD
Cancer	21183584	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Cat eye syndrome	16708226	CNVD
Olfactory neuroblastoma	18408657	CNVD
Renal cell carcinoma	18765545	CNVD
Schizophrenia	19521646	CNVD
Schizophrenia	18990708	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Hepatocellular carcinoma	16750200	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Myelofibrosis	22110671	CNVD
Non-small cell lung cancer	21829676	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29483400-29550200	Weak transcription	Rectal Smooth Muscle	rectum
2	chr22:29490400-29539800	Weak transcription	Psoas Muscle	Psoas
3	chr22:29493200-29536400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr22:29508200-29537200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr22:29515600-29533800	Weak transcription	Brain Germinal Matrix	brain
6	chr22:29517200-29546200	Strong transcription	Dnd41	blood
7	chr22:29518400-29535800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr22:29519400-29533800	Weak transcription	Fetal Brain Female	brain
9	chr22:29520600-29534200	Weak transcription	Brain Cingulate Gyrus	brain
10	chr22:29522400-29541600	Weak transcription	HMEC	breast
11	chr22:29522600-29533800	Weak transcription	Adipose Nuclei	Adipose
12	chr22:29522600-29538000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr22:29523000-29534600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr22:29523400-29548200	Weak transcription	Stomach Mucosa	stomach
15	chr22:29524400-29533800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr22:29525400-29536000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
17	chr22:29525800-29535800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr22:29525800-29544400	Weak transcription	NHLF	lung
19	chr22:29526000-29535600	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr22:29526000-29536200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr22:29526200-29542800	Weak transcription	Fetal Heart	heart
22	chr22:29526200-29547000	Weak transcription	K562	blood
23	chr22:29526400-29535800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr22:29527600-29548000	Strong transcription	Fetal Intestine Small	intestine
25	chr22:29528000-29539000	Strong transcription	Ovary	ovary
26	chr22:29528200-29535600	Strong transcription	Fetal Lung	lung
27	chr22:29528600-29544400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr22:29529400-29547000	Strong transcription	Thymus	Thymus
29	chr22:29529800-29535800	Strong transcription	Fetal Thymus	thymus
30	chr22:29530000-29535600	Weak transcription	HepG2	liver
31	chr22:29530000-29541400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr22:29530400-29535800	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr22:29530800-29546800	Genic enhancers	Fetal Muscle Leg	muscle
34	chr22:29531000-29536200	Weak transcription	Fetal Kidney	kidney
35	chr22:29531000-29540800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr22:29531000-29541000	Strong transcription	Stomach Smooth Muscle	stomach
37	chr22:29531200-29539000	Strong transcription	Esophagus	oesophagus
38	chr22:29531600-29534600	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr22:29531600-29537000	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr22:29531600-29542800	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr22:29531600-29548400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr22:29531800-29537000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr22:29532000-29533800	Genic enhancers	Fetal Muscle Trunk	muscle
44	chr22:29532000-29534200	Weak transcription	Brain Substantia Nigra	brain
45	chr22:29532600-29533600	Enhancers	Skeletal Muscle Female	skeletal muscle
46	chr22:29532600-29533800	Genic enhancers	Skeletal Muscle Male	skeletal muscle
47	chr22:29532600-29534800	Strong transcription	Aorta	Aorta
48	chr22:29532600-29536200	Strong transcription	Duodenum Smooth Muscle	Duodenum
49	chr22:29532600-29536400	Strong transcription	Brain Angular Gyrus	brain
50	chr22:29532600-29538600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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