Variant report

Variant	esv3373939
Chromosome Location	chr21:47231824-47237922
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:47237629..47240751-chr21:47286627..47289424,3	MCF-7	breast:
2	chr21:46973106..46978237-chr21:47237804..47242212,8	MCF-7	breast:
3	chr21:47237289..47239387-chr21:47252638..47254672,2	K562	blood:
4	chr21:46962604..46965511-chr21:47229673..47232533,2	MCF-7	breast:
5	chr21:47230580..47232125-chr21:47237148..47240141,2	K562	blood:
6	chr21:47230580..47232125-chr21:47237148..47240141,2	K562	blood:
7	chr21:47224097..47226924-chr21:47229345..47232171,3	K562	blood:
8	chr21:46976193..46978032-chr21:47237887..47240341,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000173638	chromatin interactions

Extended variants
information (count: 278 )
Associated
traits (count: 36 )

Variant overlapped rSNPs/rCNVs (count:278 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs187703477	chr21:47231946-47231947	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs192676654	chr21:47231980-47231981	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs562453331	chr21:47232029-47232030	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs529745241	chr21:47232030-47232031	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs9306143	chr21:47232062-47232063	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs560414228	chr21:47232087-47232088	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs112315134	chr21:47232111-47232112	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs534253622	chr21:47232112-47232113	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs201720829	chr21:47232227-47232228	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs553998842	chr21:47232230-47232231	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs552354857	chr21:47232324-47232325	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs374870263	chr21:47232379-47232380	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs577297063	chr21:47232388-47232389	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs564175599	chr21:47232408-47232409	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs532457981	chr21:47232421-47232422	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs150919839	chr21:47232422-47232423	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs568888466	chr21:47232423-47232424	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs77393647	chr21:47232429-47232430	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs536266907	chr21:47232432-47232433	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs548565035	chr21:47232439-47232440	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs551058293	chr21:47232444-47232445	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs567161981	chr21:47232460-47232461	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs376045776	chr21:47232465-47232466	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs559104257	chr21:47232474-47232475	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs140789708	chr21:47232476-47232477	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs546066710	chr21:47232505-47232506	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs150105865	chr21:47232516-47232517	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs569293008	chr21:47232544-47232545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs145505099	chr21:47232548-47232549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs111372080	chr21:47232549-47232550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs145449204	chr21:47232552-47232553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs560142960	chr21:47232553-47232554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs572304334	chr21:47232557-47232558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs545816890	chr21:47232574-47232575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs138163643	chr21:47232585-47232586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs142617070	chr21:47232595-47232596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs550630722	chr21:47232602-47232603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs562657744	chr21:47232708-47232709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs114526400	chr21:47232713-47232714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs548565752	chr21:47232750-47232751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs566798768	chr21:47232786-47232787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs182545838	chr21:47232840-47232841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs552623062	chr21:47232891-47232892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs8127953	chr21:47232905-47232906	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs186868610	chr21:47232907-47232908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs535667603	chr21:47232922-47232923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs574590062	chr21:47232970-47232971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs192167267	chr21:47232999-47233000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs371816872	chr21:47233000-47233001	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs184244156	chr21:47233067-47233068	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:36)

Disease	PMID	Source
Down syndrome	17576883	CNVD
Acute promyelocytic leukemia	19109227	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	19156837	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	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
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Autism	18414403	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Breast cancer	17899364	CNVD
Prostate cancer	20473283	CNVD
Chordoma	18071362	CNVD
Cholangiocarcinoma	16830362	CNVD
Down syndrome	17334655	CNVD
Neuroticism	17667963	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Autoimmune polyendocrine syndrome	18200029	CNVD
Prostate cancer	19363497	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Olfactory neuroblastoma	18408657	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Multiple myeloma	16616336	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21509527	CNVD

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:47217800-47260400	Weak transcription	Right Atrium	heart
2	chr21:47218000-47240200	Weak transcription	Pancreas	Pancrea
3	chr21:47221000-47236400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr21:47221200-47239800	Weak transcription	Spleen	Spleen
5	chr21:47224000-47239000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr21:47226800-47236800	Weak transcription	Fetal Thymus	thymus
7	chr21:47231400-47236800	Weak transcription	Thymus	Thymus
8	chr21:47231800-47233000	Weak transcription	Primary neutrophils fromperipheralblood	blood
9	chr21:47233000-47234400	Enhancers	Primary neutrophils fromperipheralblood	blood
10	chr21:47233800-47234000	Active TSS	Fetal Kidney	kidney
11	chr21:47234000-47234200	Bivalent/Poised TSS	Fetal Kidney	kidney
12	chr21:47234400-47237200	Weak transcription	Primary neutrophils fromperipheralblood	blood
13	chr21:47236000-47238200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr21:47236400-47236600	Enhancers	HSMM	muscle
15	chr21:47236400-47243800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr21:47236600-47238200	Weak transcription	HSMM	muscle
17	chr21:47236800-47237000	Genic enhancers	Thymus	Thymus
18	chr21:47236800-47237400	Enhancers	Fetal Thymus	thymus
19	chr21:47236800-47237600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr21:47237000-47237400	Strong transcription	Thymus	Thymus
21	chr21:47237000-47237600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr21:47237200-47237400	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr21:47237200-47237400	Enhancers	Fetal Kidney	kidney
24	chr21:47237200-47237400	Bivalent Enhancer	HepG2	liver
25	chr21:47237200-47237600	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr21:47237200-47238600	Enhancers	NH-A	brain
27	chr21:47237200-47241200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr21:47237200-47241400	Enhancers	Primary neutrophils fromperipheralblood	blood
29	chr21:47237400-47237600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr21:47237400-47237800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr21:47237400-47238600	Weak transcription	Thymus	Thymus
32	chr21:47237400-47238800	Weak transcription	Fetal Thymus	thymus
33	chr21:47237400-47240200	Enhancers	HepG2	liver
34	chr21:47237400-47240400	Weak transcription	Fetal Kidney	kidney
35	chr21:47237400-47240600	Enhancers	Monocytes-CD14+_RO01746	blood
36	chr21:47237600-47237800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
37	chr21:47237600-47238400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr21:47237600-47238800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr21:47237600-47240800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr21:47237800-47238400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
41	chr21:47237800-47239000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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