Variant report

Variant	esv3348986
Chromosome Location	chr21:40167994-40168517
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:40105541..40106641-chr21:40167843..40169143,4	K562	blood:
2	chr21:40158174..40165115-chr21:40166769..40170231,7	K562	blood:
3	chr21:40168506..40170347-chr21:40280302..40282000,2	MCF-7	breast:
4	chr21:40165875..40171413-chr21:40174363..40179390,12	MCF-7	breast:
5	chr21:40159408..40162072-chr21:40163674..40168810,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000157557	chromatin interactions

Extended variants
information (count: 21 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1209941	chr21:40167994-40167995	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs377532557	chr21:40168026-40168027	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs562639112	chr21:40168038-40168039	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs386394744	chr21:40168054-40168055	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs386394745	chr21:40168074-40168075	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs34102116	chr21:40168076-40168077	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs144915790	chr21:40168109-40168110	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs180867125	chr21:40168128-40168129	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs146718771	chr21:40168192-40168193	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs375549737	chr21:40168219-40168220	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs367583313	chr21:40168257-40168258	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs565154021	chr21:40168259-40168260	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs7510064	chr21:40168261-40168262	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs112758055	chr21:40168283-40168284	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs114280774	chr21:40168324-40168325	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs77538693	chr21:40168345-40168346	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs530182646	chr21:40168363-40168364	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs11088448	chr21:40168435-40168436	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs373928610	chr21:40168467-40168468	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs148882282	chr21:40168494-40168495	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs532392684	chr21:40168513-40168514	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:71)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Cancer	16751803	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Down syndrome	17412756	CNVD
Down syndrome	17576883	CNVD
Acute promyelocytic leukemia	19109227	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	17387387	CNVD
Renal cell carcinoma	19461508	CNVD
Seminomas	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Prostate cancer	19156837	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
lymphocytic leukemia	21291569	CNVD
Melanoma	18172304	CNVD
Autism	22958593	CNVD
Schizophrenia	22958593	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Wilms tumour	21544195	CNVD
Ewing''s sarcoma	17952124	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	16864856	CNVD
Mental retardation	21031080	CNVD
Polymicrogyria	21031080	CNVD
periventricular nodular heterotopia	21031080	CNVD
Myelodysplastic syndrome	21606161	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Autism	18414403	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Breast cancer	21858162	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	17899364	CNVD
Down syndrome	20877625	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cancer	20164920	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Prostate cancer	21147910	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Prostate cancer	17245344	CNVD
Prostate cancer	20473283	CNVD
Chordoma	18071362	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
T-cell lymphomas	22341440	CNVD
Prostate cancer	18632612	CNVD

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40160600-40169200	Weak transcription	Placenta	Placenta
2	chr21:40163000-40170400	Weak transcription	Colonic Mucosa	Colon
3	chr21:40163000-40171400	Enhancers	Rectal Mucosa Donor 31	rectum
4	chr21:40163400-40175400	Weak transcription	Primary hematopoietic stem cells	blood
5	chr21:40164400-40171200	Enhancers	Duodenum Mucosa	Duodenum
6	chr21:40165000-40176600	Enhancers	Fetal Intestine Large	intestine
7	chr21:40165600-40171000	Enhancers	HepG2	liver
8	chr21:40165800-40168400	Enhancers	A549	lung
9	chr21:40165800-40169200	Enhancers	Hela-S3	cervix
10	chr21:40166200-40170800	Weak transcription	Small Intestine	intestine
11	chr21:40166400-40175400	Enhancers	Fetal Intestine Small	intestine
12	chr21:40166400-40176000	Weak transcription	Pancreas	Pancrea
13	chr21:40166600-40177000	Weak transcription	Gastric	stomach
14	chr21:40166800-40171600	Enhancers	NHEK	skin
15	chr21:40167000-40171200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr21:40167000-40174600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr21:40167000-40176600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr21:40167200-40168000	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr21:40167200-40168000	Enhancers	HMEC	breast
20	chr21:40167200-40168200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr21:40167200-40168400	Enhancers	Sigmoid Colon	Sigmoid Colon
22	chr21:40167200-40171600	Enhancers	Placenta Amnion	Placenta Amnion
23	chr21:40167400-40168000	Enhancers	K562	blood
24	chr21:40167400-40168400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr21:40167600-40168600	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr21:40167600-40171000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr21:40167600-40175400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr21:40167800-40168000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
29	chr21:40167800-40168400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr21:40167800-40168800	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr21:40167800-40168800	Weak transcription	Stomach Mucosa	stomach
32	chr21:40167800-40169200	Weak transcription	Esophagus	oesophagus
33	chr21:40168000-40168400	Weak transcription	HMEC	breast
34	chr21:40168000-40168400	Weak transcription	K562	blood
35	chr21:40168000-40169400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr21:40168000-40169800	Enhancers	Fetal Muscle Trunk	muscle
37	chr21:40168200-40168600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr21:40168200-40169000	Enhancers	Fetal Muscle Leg	muscle
39	chr21:40168200-40170600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr21:40168200-40171000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
41	chr21:40168200-40171000	Enhancers	NH-A	brain
42	chr21:40168200-40171200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr21:40168400-40168600	Enhancers	HUVEC	blood vessel
44	chr21:40168400-40168800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr21:40168400-40168800	Enhancers	HUES64 Cell Line	embryonic stem cell
46	chr21:40168400-40168800	Flanking Active TSS	A549	lung
47	chr21:40168400-40169000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr21:40168400-40169000	Enhancers	Fetal Lung	lung
49	chr21:40168400-40169400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr21:40168400-40169400	Weak transcription	Sigmoid Colon	Sigmoid Colon

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