Variant report

Variant	esv19640
Chromosome Location	chr22:29680283-29681805
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:29663979..29668248-chr22:29679949..29682919,3	K562	blood:
2	chr22:29681529..29684391-chr22:29690343..29692437,2	MCF-7	breast:
3	chr22:29679344..29683807-chr22:29683865..29688550,5	K562	blood:
4	chr22:29678219..29683638-chr22:29683865..29689290,8	K562	blood:

Variant related genes	Relation type
ENSG00000100263	chromatin interactions
ENSG00000182944	chromatin interactions

Extended variants
information (count: 54 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:54 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs527754971	chr22:29680311-29680312	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs535034908	chr22:29680328-29680329	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs553127976	chr22:29680342-29680343	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs9625760	chr22:29680343-29680344	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs541969422	chr22:29680381-29680382	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs4823028	chr22:29680404-29680405	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs561756272	chr22:29680410-29680411	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs575106807	chr22:29680426-29680427	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs74438268	chr22:29680439-29680440	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs187893562	chr22:29680475-29680476	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs528340064	chr22:29680554-29680555	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs546856653	chr22:29680600-29680601	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs561557347	chr22:29680604-29680605	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs528891742	chr22:29680613-29680614	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs372895896	chr22:29680624-29680625	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs550733693	chr22:29680640-29680641	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs568929844	chr22:29680724-29680725	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs547589751	chr22:29680756-29680757	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs34511125	chr22:29680788-29680789	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs200677851	chr22:29680807-29680808	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs149208770	chr22:29680831-29680832	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs552774574	chr22:29680865-29680866	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs571012250	chr22:29680885-29680886	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs535037464	chr22:29680886-29680887	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs114972064	chr22:29680917-29680918	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs570631416	chr22:29680942-29680943	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs568406541	chr22:29680978-29680979	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs143352723	chr22:29680981-29680982	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs192489352	chr22:29680983-29680984	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs557039786	chr22:29680997-29680998	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs575307725	chr22:29681016-29681017	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs545610866	chr22:29681023-29681024	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs557700850	chr22:29681029-29681030	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs572970113	chr22:29681044-29681045	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs370187565	chr22:29681076-29681077	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs35739164	chr22:29681111-29681112	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs386395171	chr22:29681112-29681113	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs369903640	chr22:29681130-29681131	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs533090770	chr22:29681151-29681152	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs550011200	chr22:29681174-29681175	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs569163029	chr22:29681184-29681185	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs131184	chr22:29681216-29681217	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs373933939	chr22:29681227-29681228	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs140504026	chr22:29681228-29681229	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs551437734	chr22:29681311-29681312	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs568201224	chr22:29681313-29681314	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs534151537	chr22:29681341-29681342	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs192476072	chr22:29681520-29681521	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs534184933	chr22:29681702-29681703	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs184032534	chr22:29681708-29681709	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 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
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
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
Autism	17322880	CNVD
Breast cancer	20409316	CNVD
Neurofibromatosis type 2	19566914	CNVD
Autism	19384346	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:155 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29667200-29695000	Strong transcription	Placenta	Placenta
2	chr22:29667600-29697800	Strong transcription	Fetal Muscle Trunk	muscle
3	chr22:29667800-29697000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr22:29667800-29697200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr22:29667800-29697800	Strong transcription	Fetal Thymus	thymus
6	chr22:29668000-29697000	Strong transcription	NHEK	skin
7	chr22:29668000-29697200	Strong transcription	HUES64 Cell Line	embryonic stem cell
8	chr22:29668000-29697200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
9	chr22:29668000-29697600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
10	chr22:29668000-29697600	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr22:29668000-29698000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr22:29668000-29698200	Strong transcription	HUES6 Cell Line	embryonic stem cell
13	chr22:29668200-29697000	Strong transcription	H1 Cell Line	embryonic stem cell
14	chr22:29668200-29697400	Strong transcription	HMEC	breast
15	chr22:29668200-29697600	Strong transcription	Primary monocytes fromperipheralblood	blood
16	chr22:29668200-29697800	Strong transcription	Fetal Muscle Leg	muscle
17	chr22:29668200-29698000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr22:29668200-29698400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr22:29668200-29698400	Strong transcription	Primary neutrophils fromperipheralblood	blood
20	chr22:29668400-29697200	Strong transcription	H9 Cell Line	embryonic stem cell
21	chr22:29668400-29698000	Strong transcription	Stomach Smooth Muscle	stomach
22	chr22:29668600-29681200	Strong transcription	HSMMtube	muscle
23	chr22:29668600-29689400	Strong transcription	Primary B cells from cord blood	blood
24	chr22:29668600-29697600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr22:29668600-29698000	Strong transcription	Muscle Satellite Cultured Cells	--
26	chr22:29668800-29697000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
27	chr22:29668800-29697000	Strong transcription	Fetal Lung	lung
28	chr22:29668800-29697200	Strong transcription	Primary B cells from peripheral blood	blood
29	chr22:29668800-29697200	Strong transcription	Osteobl	bone
30	chr22:29668800-29697800	Strong transcription	HSMM	muscle
31	chr22:29669000-29696000	Strong transcription	HUVEC	blood vessel
32	chr22:29669000-29697200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr22:29669000-29697200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr22:29669000-29697200	Strong transcription	NH-A	brain
35	chr22:29669000-29698400	Strong transcription	Thymus	Thymus
36	chr22:29669200-29688800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr22:29669200-29697200	Strong transcription	Cortex derived primary cultured neurospheres	brain
38	chr22:29669200-29698000	Strong transcription	Fetal Brain Female	brain
39	chr22:29669400-29696600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr22:29669400-29697000	Strong transcription	Placenta Amnion	Placenta Amnion
41	chr22:29669400-29697400	Strong transcription	NHLF	lung
42	chr22:29669400-29698400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr22:29669400-29698400	Strong transcription	Brain Germinal Matrix	brain
44	chr22:29669600-29681200	Strong transcription	Brain Cingulate Gyrus	brain
45	chr22:29669600-29697000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr22:29669600-29697200	Strong transcription	HUES48 Cell Line	embryonic stem cell
47	chr22:29669800-29680800	Strong transcription	Right Ventricle	heart
48	chr22:29670000-29682800	Strong transcription	Brain Anterior Caudate	brain
49	chr22:29670000-29687000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr22:29670400-29695600	Strong transcription	ES-I3 Cell Line	embryonic stem cell

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