Variant report

Variant	nsv966099
Chromosome Location	chr22:29755726-29762172
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:29749186..29751153-chr22:29753987..29756178,2	K562	blood:
2	chr22:29664917..29667289-chr22:29754288..29755924,2	MCF-7	breast:
3	chr22:29731094..29731996-chr22:29755216..29755730,2	MCF-7	breast:
4	chr22:29707397..29709984-chr22:29754201..29756527,2	MCF-7	breast:
5	chr22:29701853..29704489-chr22:29754340..29756996,2	MCF-7	breast:
6	chr22:29760830..29763484-chr22:29765100..29766942,2	K562	blood:
7	chr22:29700727..29703108-chr22:29758204..29760542,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000182944	chromatin interactions
ENSG00000185340	chromatin interactions
ENSG00000100280	chromatin interactions

Extended variants
information (count: 304 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:304 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs560389717	chr22:29755738-29755739	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs377622089	chr22:29755740-29755741	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs556043481	chr22:29755741-29755742	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs548920439	chr22:29755757-29755758	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs368758354	chr22:29755775-29755776	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs567387549	chr22:29755779-29755780	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs531408659	chr22:29755789-29755790	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs148361764	chr22:29755791-29755792	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs77980793	chr22:29755802-29755803	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs141527242	chr22:29755803-29755804	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs143484030	chr22:29755831-29755832	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs34672460	chr22:29755841-29755842	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs2072051	chr22:29755888-29755889	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs368021350	chr22:29755891-29755892	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs567108618	chr22:29755909-29755910	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs371485364	chr22:29755912-29755913	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs375299154	chr22:29755963-29755964	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs181127377	chr22:29755964-29755965	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs373208542	chr22:29755974-29755975	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs376680107	chr22:29755996-29755997	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs555313194	chr22:29756030-29756031	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs573675826	chr22:29756081-29756082	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs373784954	chr22:29756098-29756099	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs537983140	chr22:29756116-29756117	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs114966167	chr22:29756170-29756171	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs577804979	chr22:29756220-29756221	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs575734985	chr22:29756261-29756262	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs113576653	chr22:29756277-29756278	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs553125122	chr22:29756312-29756313	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs78972756	chr22:29756332-29756333	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs79332733	chr22:29756333-29756334	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs9613874	chr22:29756349-29756350	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs555478467	chr22:29756370-29756371	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs545139937	chr22:29756479-29756480	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs150865628	chr22:29756480-29756481	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs185656888	chr22:29756496-29756497	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs542282249	chr22:29756529-29756530	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs560899429	chr22:29756530-29756531	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs376983448	chr22:29756571-29756572	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs541577720	chr22:29756574-29756575	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs138410726	chr22:29756589-29756590	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs549943352	chr22:29756632-29756633	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs190749836	chr22:29756636-29756637	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs182890995	chr22:29756650-29756651	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs192505039	chr22:29756654-29756655	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs551912106	chr22:29756670-29756671	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs567073368	chr22:29756698-29756699	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs147254444	chr22:29756714-29756715	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs140690986	chr22:29756726-29756727	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs565708724	chr22:29756727-29756728	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:67)

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

Chromatin state (count:376 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29721800-29756800	Strong transcription	Primary T cells from cord blood	blood
2	chr22:29722000-29759200	Strong transcription	Dnd41	blood
3	chr22:29722000-29759800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
4	chr22:29722200-29755800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr22:29722200-29756400	Strong transcription	Thymus	Thymus
6	chr22:29722200-29756600	Strong transcription	Rectal Mucosa Donor 29	rectum
7	chr22:29722200-29759800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr22:29722400-29756800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr22:29722400-29758400	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr22:29722600-29756000	Strong transcription	Primary T helper cells PMA-I stimulated	--
11	chr22:29722600-29757200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr22:29722600-29758000	Strong transcription	Primary B cells from peripheral blood	blood
13	chr22:29722600-29758800	Strong transcription	Primary monocytes fromperipheralblood	blood
14	chr22:29723000-29758800	Strong transcription	Primary T cells fromperipheralblood	blood
15	chr22:29723000-29765000	Strong transcription	Primary T helper cells fromperipheralblood	blood
16	chr22:29725400-29756200	Strong transcription	Primary B cells from cord blood	blood
17	chr22:29727400-29756200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr22:29728000-29756200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr22:29738200-29755800	Strong transcription	Spleen	Spleen
20	chr22:29739000-29762800	Strong transcription	Primary neutrophils fromperipheralblood	blood
21	chr22:29739800-29757200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
22	chr22:29740200-29756400	Strong transcription	Fetal Thymus	thymus
23	chr22:29740600-29759000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr22:29740800-29756000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr22:29740800-29759000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr22:29741000-29782800	Weak transcription	Hela-S3	cervix
27	chr22:29741800-29756200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr22:29741800-29757200	Strong transcription	Primary hematopoietic stem cells	blood
29	chr22:29741800-29760200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr22:29742000-29755800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr22:29742000-29755800	Strong transcription	Rectal Mucosa Donor 31	rectum
32	chr22:29742000-29755800	Strong transcription	Osteobl	bone
33	chr22:29742000-29756000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
34	chr22:29742000-29756000	Strong transcription	NHEK	skin
35	chr22:29742000-29757000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr22:29742200-29756200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr22:29742200-29756200	Strong transcription	Lung	lung
38	chr22:29742400-29756000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr22:29743200-29756000	Strong transcription	HUES6 Cell Line	embryonic stem cell
40	chr22:29743600-29756000	Strong transcription	Brain Germinal Matrix	brain
41	chr22:29744000-29756600	Strong transcription	Fetal Brain Female	brain
42	chr22:29745000-29755800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr22:29745000-29765200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
44	chr22:29745600-29763400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr22:29747600-29755800	Strong transcription	Duodenum Mucosa	Duodenum
46	chr22:29747800-29756000	Strong transcription	Pancreas	Pancrea
47	chr22:29749000-29755800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr22:29749200-29756000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr22:29750400-29756200	Strong transcription	Brain Anterior Caudate	brain
50	chr22:29750600-29765200	Weak transcription	NHDF-Ad	bronchial

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links