Variant report

Variant	esv3406100
Chromosome Location	chr21:40708107-40710655
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:40696329..40702419-chr21:40706472..40712889,11	K562	blood:
2	chr21:40681057..40687929-chr21:40707012..40715318,11	K562	blood:
3	chr21:40708669..40709220-chr21:40760212..40761168,2	K562	blood:
4	21:40702099-40712819..21:40757151-40764378	K562	blood:
5	21:40553066-40557191..21:40702099-40712819	K562	blood:
6	chr21:40692981..40695530-chr21:40706938..40709803,5	K562	blood:

Variant related genes	Relation type
ENSG00000183527	chromatin interactions
ENSG00000185658	chromatin interactions
ENSG00000182093	chromatin interactions
ENSG00000272991	chromatin interactions
ENSG00000255568	chromatin interactions
ENSG00000238141	chromatin interactions

Extended variants
information (count: 116 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:116 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs144071217	chr21:40708115-40708116	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
2	rs148213963	chr21:40708128-40708129	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
3	rs183413929	chr21:40708145-40708146	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
4	rs528517506	chr21:40708146-40708147	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
5	rs188469267	chr21:40708181-40708182	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
6	rs567479356	chr21:40708261-40708262	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
7	rs141228762	chr21:40708279-40708280	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
8	rs550067449	chr21:40708345-40708346	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
9	rs34155394	chr21:40708359-40708360	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
10	rs569889345	chr21:40708368-40708369	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
11	rs192919360	chr21:40708391-40708392	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
12	rs558693538	chr21:40708410-40708411	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
13	rs113970197	chr21:40708496-40708497	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
14	rs565755567	chr21:40708499-40708500	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
15	rs184742115	chr21:40708521-40708522	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
16	rs150708688	chr21:40708576-40708577	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
17	rs187089858	chr21:40708579-40708580	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
18	rs544109994	chr21:40708585-40708586	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
19	rs143875421	chr21:40708602-40708603	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
20	rs577033861	chr21:40708619-40708620	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
21	rs545979785	chr21:40708652-40708653	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
22	rs62223052	chr21:40708702-40708703	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs528564224	chr21:40708744-40708745	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
24	rs146398988	chr21:40708756-40708757	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
25	rs562131485	chr21:40708762-40708763	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
26	rs545079608	chr21:40708772-40708773	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
27	rs13047663	chr21:40708818-40708819	Weak transcription Active TSS	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs9975256	chr21:40708824-40708825	Weak transcription Active TSS	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs569923453	chr21:40708840-40708841	Weak transcription Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
30	rs13047678	chr21:40708853-40708854	Weak transcription Active TSS	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs139777999	chr21:40708938-40708939	Weak transcription Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
32	rs139586691	chr21:40708946-40708947	Weak transcription Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
33	rs115181687	chr21:40708953-40708954	Weak transcription Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
34	rs541707015	chr21:40708958-40708959	Weak transcription Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
35	rs376159633	chr21:40708963-40708964	Weak transcription Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
36	rs370350270	chr21:40708973-40708974	Weak transcription Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
37	rs13047814	chr21:40708974-40708975	Weak transcription Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
38	rs373386034	chr21:40708976-40708977	Weak transcription Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
39	rs386818544	chr21:40709004-40709005	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
40	rs191193370	chr21:40709006-40709007	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
41	rs376354692	chr21:40709007-40709008	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
42	rs4818021	chr21:40709058-40709059	Weak transcription	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs377146855	chr21:40709063-40709064	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
44	rs4818022	chr21:40709070-40709071	Weak transcription	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs4818023	chr21:40709073-40709074	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
46	rs55740356	chr21:40709096-40709097	Weak transcription	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs4818024	chr21:40709123-40709124	Weak transcription	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs9305672	chr21:40709161-40709162	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
49	rs371278661	chr21:40709168-40709169	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
50	rs374183037	chr21:40709169-40709170	Weak transcription	Chromatin interactive region	6 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
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
Breast cancer	21364760	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
Breast cancer	22522925	CNVD
T-cell lymphomas	22341440	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40692400-40718400	Weak transcription	Right Atrium	heart
2	chr21:40699200-40712600	Weak transcription	Fetal Muscle Leg	muscle
3	chr21:40704000-40719600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr21:40704200-40712800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr21:40704200-40712800	Weak transcription	A549	lung
6	chr21:40704200-40713200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr21:40704400-40712200	Weak transcription	Fetal Muscle Trunk	muscle
8	chr21:40704400-40712600	Weak transcription	Fetal Intestine Large	intestine
9	chr21:40704400-40712800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr21:40704400-40713000	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr21:40704400-40713000	Weak transcription	Fetal Intestine Small	intestine
12	chr21:40704400-40713200	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr21:40704400-40713400	Weak transcription	Hela-S3	cervix
14	chr21:40704400-40715000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr21:40704400-40715200	Weak transcription	Spleen	Spleen
16	chr21:40704600-40708400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr21:40704600-40712600	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr21:40704600-40712600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr21:40704600-40712600	Weak transcription	Duodenum Mucosa	Duodenum
20	chr21:40704600-40712600	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr21:40704600-40712800	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr21:40704600-40712800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr21:40704600-40712800	Weak transcription	Left Ventricle	heart
24	chr21:40704600-40712800	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr21:40704600-40713200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr21:40704600-40713200	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr21:40704600-40713800	Weak transcription	Ovary	ovary
28	chr21:40704600-40717200	Weak transcription	Right Ventricle	heart
29	chr21:40704600-40719600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr21:40704800-40708600	Weak transcription	Placenta	Placenta
31	chr21:40704800-40708600	Weak transcription	HepG2	liver
32	chr21:40704800-40712800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr21:40704800-40715200	Weak transcription	Fetal Heart	heart
34	chr21:40705000-40713000	Weak transcription	K562	blood
35	chr21:40705400-40712600	Weak transcription	Brain Cingulate Gyrus	brain
36	chr21:40708400-40708600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr21:40708400-40708600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr21:40708400-40708800	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr21:40708600-40708800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr21:40708600-40708800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr21:40708600-40708800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr21:40708600-40708800	Enhancers	Esophagus	oesophagus
43	chr21:40708600-40708800	Enhancers	Placenta	Placenta
44	chr21:40708600-40708800	Enhancers	Gastric	stomach
45	chr21:40708600-40708800	Flanking Active TSS	HepG2	liver
46	chr21:40708600-40708800	Active TSS	Osteobl	bone
47	chr21:40708600-40712600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr21:40708600-40712800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr21:40708600-40712800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr21:40708800-40709000	Active TSS	HepG2	liver

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