Variant report

Variant	esv3369939
Chromosome Location	chr22:34172007-34172449
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	chr22:34167046..34169223-chr22:34170241..34173338,3	MCF-7	breast:

Extended variants
information (count: 23 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558977968	chr22:34172028-34172029	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs566398183	chr22:34172034-34172035	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs5999095	chr22:34172049-34172050	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs554163822	chr22:34172054-34172055	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs574160108	chr22:34172071-34172072	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs143352782	chr22:34172087-34172088	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs556688488	chr22:34172095-34172096	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs187598722	chr22:34172103-34172104	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs146717210	chr22:34172162-34172163	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs192030241	chr22:34172171-34172172	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs559368831	chr22:34172175-34172176	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs375058253	chr22:34172237-34172238	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs5754665	chr22:34172277-34172278	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs140419457	chr22:34172280-34172281	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs561279253	chr22:34172325-34172326	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs116018948	chr22:34172329-34172330	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs561337885	chr22:34172354-34172355	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs554881558	chr22:34172387-34172388	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs184295303	chr22:34172392-34172393	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs59015613	chr22:34172398-34172399	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs388536	chr22:34172415-34172416	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs369342	chr22:34172423-34172424	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs566213041	chr22:34172426-34172427	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
Prostate cancer	22341455	CNVD
Acute lymphoblastic leukemia	21339820	CNVD

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:34126200-34176200	Weak transcription	Spleen	Spleen
2	chr22:34154400-34175800	Weak transcription	Fetal Stomach	stomach
3	chr22:34154400-34176000	Weak transcription	Gastric	stomach
4	chr22:34162600-34172600	Weak transcription	Lung	lung
5	chr22:34165400-34176400	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr22:34165600-34172800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr22:34166000-34172200	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr22:34166000-34176600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr22:34166800-34175800	Weak transcription	Stomach Smooth Muscle	stomach
10	chr22:34167600-34172200	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr22:34167800-34176000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr22:34168000-34173000	Weak transcription	Pancreas	Pancrea
13	chr22:34168000-34183800	Enhancers	Fetal Heart	heart
14	chr22:34169000-34176000	Weak transcription	Fetal Muscle Leg	muscle
15	chr22:34169200-34172400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr22:34169400-34177600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr22:34169800-34176200	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr22:34170000-34181800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr22:34170800-34172800	Enhancers	H9 Cell Line	embryonic stem cell
20	chr22:34170800-34173000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr22:34170800-34174000	Enhancers	Psoas Muscle	Psoas
22	chr22:34170800-34174600	Enhancers	Left Ventricle	heart
23	chr22:34171000-34172800	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr22:34171000-34174600	Enhancers	Ovary	ovary
25	chr22:34171400-34172600	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr22:34171400-34172600	Weak transcription	Fetal Lung	lung
27	chr22:34171400-34172600	Weak transcription	Right Ventricle	heart
28	chr22:34171400-34172800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr22:34171400-34172800	Weak transcription	Right Atrium	heart
30	chr22:34171400-34172800	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr22:34171400-34176000	Weak transcription	Colon Smooth Muscle	Colon
32	chr22:34171600-34172600	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr22:34171600-34174400	Weak transcription	Duodenum Mucosa	Duodenum
34	chr22:34171600-34176600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr22:34171800-34174600	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr22:34172000-34172200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr22:34172000-34172200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr22:34172200-34172600	Enhancers	Cortex derived primary cultured neurospheres	brain
39	chr22:34172200-34172800	Enhancers	HUES6 Cell Line	embryonic stem cell
40	chr22:34172200-34176000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr22:34172400-34173000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr22:34172400-34174000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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