Variant report

Variant	esv2762115
Chromosome Location	chr21:47885139-47895430
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:24)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:24 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:47883502..47886086-chr21:47906187..47908482,2	K562	blood:
2	chr21:47890468..47894003-chr21:47902354..47905645,3	K562	blood:
3	chr21:47890738..47894078-chr21:47895318..47898007,3	K562	blood:
4	chr21:47889351..47891047-chr21:47896142..47899048,2	K562	blood:
5	chr21:47888811..47890884-chr21:47895000..47897814,3	MCF-7	breast:
6	chr21:47877284..47879423-chr21:47892470..47894339,2	MCF-7	breast:
7	chr21:47877528..47880072-chr21:47890482..47892466,2	MCF-7	breast:
8	chr21:47881557..47884744-chr21:47886955..47890913,5	K562	blood:
9	chr21:47885090..47886650-chr21:47889873..47892841,2	K562	blood:
10	chr21:47887604..47890529-chr21:47890644..47893911,5	K562	blood:
11	chr21:47878842..47881395-chr21:47894963..47898663,3	MCF-7	breast:
12	chr21:47872096..47873794-chr21:47894996..47896694,2	K562	blood:
13	chr21:47890738..47894078-chr21:47895318..47898007,3	K562	blood:
14	chr21:47885090..47886650-chr21:47889873..47892841,2	K562	blood:
15	chr21:47893839..47896328-chr21:48054252..48056582,2	K562	blood:
16	chr21:47888811..47890884-chr21:47895000..47897814,3	MCF-7	breast:
17	chr21:47878933..47880849-chr21:47887443..47889198,2	MCF-7	breast:
18	chr21:47879656..47881987-chr21:47889177..47890960,2	MCF-7	breast:
19	chr21:47887604..47890529-chr21:47890644..47893911,5	K562	blood:
20	chr21:47894138..47896421-chr21:47897185..47899846,2	K562	blood:
21	chr21:47878656..47882894-chr21:47894260..47898635,4	K562	blood:
22	chr21:47874840..47880520-chr21:47886599..47894853,12	K562	blood:
23	chr21:47876987..47881294-chr21:47888393..47893414,5	K562	blood:
24	chr21:47893343..47896013-chr21:47906883..47909575,2	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PCNT-1	chr21:47889059-47889218	NR_046400
2	lnc-PCNT-1	chr21:47889059-47889219	ENSG00000223692.1

No data

Variant related genes	Relation type
ENSG00000160310	chromatin interactions
ENSG00000160305	chromatin interactions
ENSG00000223692	chromatin interactions

Extended variants
information (count: 410 )
Associated
traits (count: 36 )

Variant overlapped rSNPs/rCNVs (count:410 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2839266	chr21:47885139-47885140	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs7279084	chr21:47885193-47885194	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs111904865	chr21:47885226-47885227	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs147501989	chr21:47885246-47885247	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs540096613	chr21:47885279-47885280	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs112446705	chr21:47885327-47885328	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs77913676	chr21:47885336-47885337	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs558181427	chr21:47885344-47885345	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs112558208	chr21:47885378-47885379	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs576344885	chr21:47885383-47885384	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs549131536	chr21:47885409-47885410	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs565565989	chr21:47885465-47885466	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs183380691	chr21:47885531-47885532	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs76995051	chr21:47885532-47885533	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs187915472	chr21:47885553-47885554	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs112726090	chr21:47885581-47885582	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs541573481	chr21:47885595-47885596	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs559479443	chr21:47885597-47885598	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs146703702	chr21:47885633-47885634	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs577784987	chr21:47885728-47885729	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs545256367	chr21:47885770-47885771	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs557669435	chr21:47885771-47885772	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs117286059	chr21:47885797-47885798	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs577609684	chr21:47885801-47885802	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs148586589	chr21:47885810-47885811	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs28822471	chr21:47885814-47885815	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs560581463	chr21:47885885-47885886	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs191283823	chr21:47885957-47885958	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs183524121	chr21:47885985-47885986	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs187206357	chr21:47886006-47886007	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs544498525	chr21:47886013-47886014	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs539652977	chr21:47886015-47886016	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs28897385	chr21:47886063-47886064	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs4276098	chr21:47886065-47886066	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs537781130	chr21:47886143-47886144	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs555783419	chr21:47886161-47886162	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs574111369	chr21:47886211-47886212	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs543906002	chr21:47886255-47886256	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs71187318	chr21:47886279-47886280	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs535095479	chr21:47886281-47886282	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs151153656	chr21:47886323-47886324	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs192526174	chr21:47886350-47886351	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs544881621	chr21:47886353-47886354	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs563548993	chr21:47886449-47886450	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs184660835	chr21:47886450-47886451	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs372957710	chr21:47886478-47886479	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs559966898	chr21:47886481-47886482	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs560517272	chr21:47886504-47886505	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs79122615	chr21:47886506-47886507	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs545707625	chr21:47886528-47886529	Weak transcription Strong 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:451 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:47879800-47892000	Weak transcription	Lung	lung
2	chr21:47880000-47887600	Weak transcription	Fetal Muscle Trunk	muscle
3	chr21:47880000-47889400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr21:47880000-47892000	Weak transcription	Liver	Liver
5	chr21:47880000-47892000	Weak transcription	Small Intestine	intestine
6	chr21:47880000-47892200	Weak transcription	Pancreas	Pancrea
7	chr21:47880000-47892200	Weak transcription	Spleen	Spleen
8	chr21:47880000-47892400	Weak transcription	Gastric	stomach
9	chr21:47880000-47900200	Weak transcription	Esophagus	oesophagus
10	chr21:47880000-47900400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr21:47880000-47905800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr21:47880000-47916800	Weak transcription	Aorta	Aorta
13	chr21:47880200-47886000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr21:47880200-47889000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr21:47880200-47889400	Weak transcription	Fetal Intestine Small	intestine
16	chr21:47880200-47892400	Weak transcription	Duodenum Mucosa	Duodenum
17	chr21:47880200-47900000	Weak transcription	Colonic Mucosa	Colon
18	chr21:47880200-47902800	Weak transcription	Brain Cingulate Gyrus	brain
19	chr21:47880200-47903200	Weak transcription	Stomach Mucosa	stomach
20	chr21:47880200-47909400	Weak transcription	A549	lung
21	chr21:47880200-47911600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr21:47880200-47916600	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr21:47880400-47885200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr21:47880400-47885200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr21:47880400-47885400	Weak transcription	Primary monocytes fromperipheralblood	blood
26	chr21:47880400-47888800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr21:47880400-47889000	Weak transcription	Primary B cells from cord blood	blood
28	chr21:47880400-47889000	Weak transcription	Osteobl	bone
29	chr21:47880400-47889200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr21:47880400-47889200	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr21:47880400-47889200	Weak transcription	Thymus	Thymus
32	chr21:47880400-47890400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr21:47880400-47891400	Weak transcription	Primary B cells from peripheral blood	blood
34	chr21:47880400-47892000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr21:47880400-47892200	Weak transcription	Right Ventricle	heart
36	chr21:47880400-47893800	Weak transcription	Fetal Intestine Large	intestine
37	chr21:47880400-47896800	Weak transcription	Fetal Lung	lung
38	chr21:47880400-47898800	Weak transcription	HSMM	muscle
39	chr21:47880400-47906600	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr21:47880400-47908800	Weak transcription	Fetal Brain Male	brain
41	chr21:47880400-47908800	Weak transcription	Rectal Smooth Muscle	rectum
42	chr21:47880400-47909200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr21:47880400-47909200	Weak transcription	NHLF	lung
44	chr21:47880400-47909400	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr21:47880400-47916600	Weak transcription	Fetal Kidney	kidney
46	chr21:47880400-47916600	Weak transcription	HSMMtube	muscle
47	chr21:47880400-47918000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr21:47880400-47918200	Weak transcription	Placenta Amnion	Placenta Amnion
49	chr21:47880400-47931200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr21:47880600-47887200	Weak transcription	NHEK	skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links