Variant report

Variant	esv3416665
Chromosome Location	chr21:47318623-47318928
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr21:47318899-47318949	PrEC	prostate:	n/a
2	chr21:47318899-47318949	HPAEpiC	pulmonary alveolar:	n/a
3	chr21:47318899-47318949	AG10803	skin:	n/a
4	chr21:47318899-47318949	HL-60	blood:	n/a
5	chr21:47318899-47318949	HCT-116	colon:	n/a
6	chr21:47318899-47318949	SAEC	small airway:	n/a
7	chr21:47318899-47318949	SK-N-SH	brain:	n/a
8	chr21:47318899-47318949	LNCaP	prostate:	n/a
9	chr21:47318899-47318949	T-47D	breast:	n/a
10	chr21:47318899-47318949	PFSK-1	brain:	n/a
11	chr21:47318899-47318949	U87	brain:	n/a
12	chr21:47318899-47318949	ProgFib	skin:	n/a
13	chr21:47318899-47318949	NHDF-neo	bronchial:	n/a
14	chr21:47318899-47318949	Caco-2	colon:	n/a
15	chr21:47318899-47318949	HEK293	kidney:	embryo
16	chr21:47318899-47318949	SK-N-MC	brain:	n/a
17	chr21:47318899-47318949	GM19239	blood:	n/a
18	chr21:47318899-47318949	Jurkat	blood:	n/a
19	chr21:47318899-47318949	SK-N-SH_RA	brain:	n/a
20	chr21:47318899-47318949	NB4	blood:	n/a
21	chr21:47318899-47318949	HCPEpiC	choroid plexus:	n/a
22	chr21:47318899-47318949	NHBE	bronchial:	n/a
23	chr21:47318899-47318949	IMR90	lung:	fetal
24	chr21:47318899-47318949	HRPEpiC	eye:	n/a
25	chr21:47318899-47318949	CMK	blood:	n/a
26	chr21:47318899-47318949	ovcar-3	ovarian:	n/a
27	chr21:47318899-47318949	GM12892	blood:	n/a
28	chr21:47318899-47318949	SKMC	muscle:	n/a
29	chr21:47318899-47318949	K562	blood:	n/a
30	chr21:47318899-47318949	AoSMC	blood vessel:	n/a
31	chr21:47318899-47318949	HCF	heart:	n/a
32	chr21:47318899-47318949	MCF-7	breast:	n/a
33	chr21:47318899-47318949	HRE	kidney:	n/a
34	chr21:47318899-47318949	NH-A	brain:	n/a
35	chr21:47318899-47318949	ECC-1	luminal epithelium:	n/a
36	chr21:47318899-47318949	Hepatocyte	liver:	n/a
37	chr21:47318899-47318949	PANC-1	pancreas:	n/a
38	chr21:47318899-47318949	NT2-D1	testis:	n/a
39	chr21:47318899-47318949	GM12878	blood:	n/a
40	chr21:47318899-47318949	GM06990	blood:	n/a
41	chr21:47318899-47318949	H1-hESC	embryonic stem cell:	embryo
42	chr21:47318899-47318949	AG09319	gingival:	n/a
43	chr21:47318899-47318949	HAEpiC	amniotic membrane:	n/a
44	chr21:47318899-47318949	RPTEC	kidney:	n/a
45	chr21:47318899-47318949	HIPEpiC	eye:	n/a
46	chr21:47318899-47318949	HMEC	breast:	n/a
47	chr21:47318899-47318949	GM12891	blood:	n/a
48	chr21:47318899-47318949	AG04449	skin:	fetal
49	chr21:47318899-47318949	HepG2	liver:	n/a
50	chr21:47318899-47318949	HNPCEpiC	eye:	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FTCD-6	chr21:47318759-47318789	NONHSAT082999
2	lnc-FTCD-6	chr21:47318001-47318626	NONHSAT082999

No data

Variant related genes	Relation type
PCBP3	CpG island

Extended variants
information (count: 42 )
Associated
traits (count: 36 )

Variant overlapped rSNPs/rCNVs (count:42 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs148870384	chr21:47318624-47318625	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
2	rs189938728	chr21:47318625-47318626	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
3	rs145608126	chr21:47318635-47318636	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs182580712	chr21:47318645-47318646	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs138118911	chr21:47318653-47318654	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs186073107	chr21:47318657-47318658	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs141226874	chr21:47318668-47318669	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs111468319	chr21:47318679-47318680	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs539678256	chr21:47318686-47318687	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs551264626	chr21:47318689-47318690	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs112441607	chr21:47318700-47318701	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs536862815	chr21:47318704-47318705	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs555171646	chr21:47318711-47318712	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs188190566	chr21:47318713-47318714	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs145529748	chr21:47318724-47318725	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs180717443	chr21:47318730-47318731	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs535617352	chr21:47318735-47318736	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs112411778	chr21:47318745-47318746	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs554096557	chr21:47318755-47318756	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs57453408	chr21:47318761-47318762	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
21	rs113826911	chr21:47318768-47318769	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
22	rs2009302	chr21:47318775-47318776	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
23	rs77152230	chr21:47318777-47318778	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
24	rs553775007	chr21:47318781-47318782	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
25	rs113437456	chr21:47318788-47318789	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
26	rs185000570	chr21:47318792-47318793	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs60498857	chr21:47318800-47318801	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs762257	chr21:47318805-47318806	Enhancers Weak transcription Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs60579722	chr21:47318811-47318812	Enhancers Weak transcription Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs56996357	chr21:47318819-47318820	Enhancers Weak transcription Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs58028564	chr21:47318821-47318822	Enhancers Weak transcription Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs66861147	chr21:47318833-47318834	Enhancers Weak transcription Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs143438385	chr21:47318836-47318837	Enhancers Weak transcription Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs545833081	chr21:47318844-47318845	Enhancers Weak transcription Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs7276712	chr21:47318855-47318856	Enhancers Weak transcription Bivalent Enhancer Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs556154459	chr21:47318856-47318857	Enhancers Weak transcription Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs576100223	chr21:47318863-47318864	Enhancers Weak transcription Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs562187971	chr21:47318868-47318869	Enhancers Weak transcription Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs372926366	chr21:47318876-47318877	Enhancers Weak transcription Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs374917941	chr21:47318888-47318889	Enhancers Weak transcription Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs7276849	chr21:47318896-47318897	Enhancers Weak transcription Bivalent Enhancer Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs148607203	chr21:47318918-47318919	Enhancers Weak transcription Bivalent Enhancer Strong transcription	CpG island	1 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:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:47308000-47343000	Weak transcription	Right Atrium	heart
2	chr21:47313200-47335600	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr21:47313400-47321000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr21:47313800-47321600	Weak transcription	Primary T cells from cord blood	blood
5	chr21:47314400-47330200	Weak transcription	Brain Hippocampus Middle	brain
6	chr21:47314600-47324600	Weak transcription	Rectal Smooth Muscle	rectum
7	chr21:47314600-47327400	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr21:47314600-47330200	Weak transcription	Brain Cingulate Gyrus	brain
9	chr21:47315000-47330200	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr21:47315200-47323400	Weak transcription	HSMMtube	muscle
11	chr21:47315200-47330200	Weak transcription	Adipose Nuclei	Adipose
12	chr21:47315800-47319600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr21:47316200-47322600	Weak transcription	Fetal Thymus	thymus
14	chr21:47316200-47326600	Strong transcription	Thymus	Thymus
15	chr21:47317600-47322400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr21:47317800-47322400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr21:47318000-47318800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr21:47318000-47320000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr21:47318600-47321000	Weak transcription	Spleen	Spleen
20	chr21:47318800-47319600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
21	chr21:47318800-47321200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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