Variant report

Variant	esv1986816
Chromosome Location	chr21:47612311-47612755
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:47609974..47612324-chr21:47641874..47644761,2	MCF-7	breast:
2	chr21:47611559..47613135-chr21:47649369..47651464,2	MCF-7	breast:
3	chr21:47609281..47613722-chr21:47615252..47618849,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000160285	chromatin interactions
ENSG00000215424	chromatin interactions

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

Variant overlapped rSNPs/rCNVs (count:36 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559841461	chr21:47612371-47612372	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs527375014	chr21:47612381-47612382	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs551923978	chr21:47612395-47612396	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs570383464	chr21:47612409-47612410	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs140560500	chr21:47612417-47612418	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs565533146	chr21:47612419-47612420	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs550071504	chr21:47612420-47612421	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs116474329	chr21:47612424-47612425	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs113954605	chr21:47612442-47612443	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs184121520	chr21:47612450-47612451	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs2187120	chr21:47612466-47612467	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs2187121	chr21:47612471-47612472	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs112103623	chr21:47612484-47612485	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs111494706	chr21:47612488-47612489	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs558684765	chr21:47612499-47612500	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs376570991	chr21:47612504-47612505	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs200659320	chr21:47612508-47612509	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs146297977	chr21:47612512-47612513	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs66528212	chr21:47612513-47612514	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs3057237	chr21:47612518-47612519	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs556476711	chr21:47612539-47612540	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs574772701	chr21:47612569-47612570	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs141357375	chr21:47612575-47612576	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs573989028	chr21:47612600-47612601	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs560725050	chr21:47612621-47612622	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs572052948	chr21:47612627-47612628	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs545836740	chr21:47612632-47612633	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs113932475	chr21:47612645-47612646	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs377257418	chr21:47612653-47612654	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs563948062	chr21:47612687-47612688	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs531297685	chr21:47612708-47612709	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs549786031	chr21:47612713-47612714	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs562010973	chr21:47612714-47612715	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs149308541	chr21:47612716-47612717	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs111248103	chr21:47612720-47612721	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs529194657	chr21:47612739-47612740	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	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:137 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:47605000-47613600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr21:47605000-47613600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr21:47605000-47633200	Weak transcription	Stomach Mucosa	stomach
4	chr21:47605200-47613200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr21:47605200-47646200	Weak transcription	Psoas Muscle	Psoas
6	chr21:47605400-47613400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr21:47605400-47613600	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr21:47605400-47625600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr21:47605400-47646200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr21:47605400-47646200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr21:47605600-47612600	Weak transcription	Primary hematopoietic stem cells	blood
12	chr21:47605600-47613400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr21:47605600-47613600	Weak transcription	Primary T helper cells fromperipheralblood	blood
14	chr21:47605800-47612400	Weak transcription	Primary B cells from cord blood	blood
15	chr21:47605800-47613600	Weak transcription	Primary B cells from peripheral blood	blood
16	chr21:47605800-47613600	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr21:47605800-47621000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr21:47606000-47613600	Weak transcription	Primary neutrophils fromperipheralblood	blood
19	chr21:47606200-47612400	Weak transcription	Fetal Brain Male	brain
20	chr21:47606600-47639800	Strong transcription	Fetal Brain Female	brain
21	chr21:47607400-47645200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
22	chr21:47607400-47646200	Strong transcription	Fetal Stomach	stomach
23	chr21:47607600-47617000	Strong transcription	Brain Germinal Matrix	brain
24	chr21:47607800-47621000	Strong transcription	Liver	Liver
25	chr21:47608000-47612400	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr21:47608400-47621000	Strong transcription	Dnd41	blood
27	chr21:47608400-47622800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr21:47608600-47613800	Strong transcription	Gastric	stomach
29	chr21:47608800-47612400	Weak transcription	Fetal Kidney	kidney
30	chr21:47608800-47612800	Strong transcription	Sigmoid Colon	Sigmoid Colon
31	chr21:47608800-47613000	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr21:47609000-47613800	Strong transcription	Pancreas	Pancrea
33	chr21:47609000-47617000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr21:47609000-47617600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr21:47609000-47634800	Strong transcription	Cortex derived primary cultured neurospheres	brain
36	chr21:47609200-47612400	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr21:47609200-47612800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr21:47609200-47617000	Strong transcription	Spleen	Spleen
39	chr21:47609200-47621000	Strong transcription	Fetal Muscle Leg	muscle
40	chr21:47609400-47616400	Strong transcription	Duodenum Mucosa	Duodenum
41	chr21:47609400-47617000	Strong transcription	Aorta	Aorta
42	chr21:47609400-47617200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr21:47609400-47618200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr21:47609400-47618200	Strong transcription	Colonic Mucosa	Colon
45	chr21:47609400-47621400	Weak transcription	A549	lung
46	chr21:47609400-47621600	Strong transcription	H9 Cell Line	embryonic stem cell
47	chr21:47609600-47617000	Strong transcription	HUES48 Cell Line	embryonic stem cell
48	chr21:47609600-47617000	Strong transcription	Ovary	ovary
49	chr21:47609600-47623000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
50	chr21:47609800-47612600	Weak transcription	Fetal Heart	heart

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