Variant report

Variant	esv5347
Chromosome Location	chr21:47318409-47318979
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:62)
Chromatin interactive
region (count:0)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr21:47318330-47318469	K562	blood:	n/a	n/a
2	POLR2A	chr21:47318130-47318503	MCF-7	breast:	n/a	n/a

(count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr21:47318899-47318949	ovcar-3	ovarian:	n/a
2	chr21:47318899-47318949	ovcar-3	ovarian:	n/a
3	chr21:47318899-47318949	HNPCEpiC	eye:	n/a
4	chr21:47318899-47318949	HRCEpiC	kidney:	n/a
5	chr21:47318899-47318949	HEK293	kidney:	embryo
6	chr21:47318899-47318949	AG10803	skin:	n/a
7	chr21:47318899-47318949	RPTEC	kidney:	n/a
8	chr21:47318899-47318949	HAEpiC	amniotic membrane:	n/a
9	chr21:47318899-47318949	MCF10A-Er-Src	breast:	n/a
10	chr21:47318899-47318949	IMR90	lung:	fetal
11	chr21:47318899-47318949	Caco-2	colon:	n/a
12	chr21:47318899-47318949	SK-N-SH	brain:	n/a
13	chr21:47318899-47318949	H1-hESC	embryonic stem cell:	embryo
14	chr21:47318899-47318949	NT2-D1	testis:	n/a
15	chr21:47318899-47318949	HepG2	liver:	n/a
16	chr21:47318899-47318949	NHDF-neo	bronchial:	n/a
17	chr21:47318899-47318949	A549	lung:	n/a
18	chr21:47318899-47318949	AG04450	lung:	fetal
19	chr21:47318899-47318949	LNCaP	prostate:	n/a
20	chr21:47318899-47318949	BJ	skin:	n/a
21	chr21:47318899-47318949	PrEC	prostate:	n/a
22	chr21:47318899-47318949	HCF	heart:	n/a
23	chr21:47318899-47318949	HPAEpiC	pulmonary alveolar:	n/a
24	chr21:47318899-47318949	PANC-1	pancreas:	n/a
25	chr21:47318899-47318949	BE2_C	brain:	n/a
26	chr21:47318899-47318949	MCF-7	breast:	n/a
27	chr21:47318899-47318949	AG09309	skin:	n/a
28	chr21:47318899-47318949	HIPEpiC	eye:	n/a
29	chr21:47318899-47318949	T-47D	breast:	n/a
30	chr21:47318899-47318949	GM12878	blood:	n/a
31	chr21:47318899-47318949	HUVEC	blood vessel:	n/a
32	chr21:47318899-47318949	NB4	blood:	n/a
33	chr21:47318899-47318949	AoSMC	blood vessel:	n/a
34	chr21:47318899-47318949	GM06990	blood:	n/a
35	chr21:47318899-47318949	HCM	heart:	n/a
36	chr21:47318899-47318949	Hela-S3	cervix:	n/a
37	chr21:47318899-47318949	HEEpiC	esophagus:	n/a
38	chr21:47318899-47318949	SAEC	small airway:	n/a
39	chr21:47318899-47318949	PFSK-1	brain:	n/a
40	chr21:47318899-47318949	HRPEpiC	eye:	n/a
41	chr21:47318899-47318949	Jurkat	blood:	n/a
42	chr21:47318899-47318949	HRE	kidney:	n/a
43	chr21:47318899-47318949	AG09319	gingival:	n/a
44	chr21:47318899-47318949	GM19239	blood:	n/a
45	chr21:47318899-47318949	U87	brain:	n/a
46	chr21:47318899-47318949	GM12891	blood:	n/a
47	chr21:47318899-47318949	HCPEpiC	choroid plexus:	n/a
48	chr21:47318899-47318949	HCT-116	colon:	n/a
49	chr21:47318899-47318949	HMEC	breast:	n/a
50	chr21:47318899-47318949	CMK	blood:	n/a

No data

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

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

No data

Variant related genes	Relation type
PCBP3	TF binding region
PCBP3	CpG island

Extended variants
information (count: 75 )
Associated
traits (count: 36 )

Variant overlapped rSNPs/rCNVs (count:75 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs138242865	chr21:47318410-47318411	Weak transcription Strong transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
2	rs554816997	chr21:47318422-47318423	Weak transcription Strong transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
3	rs13046725	chr21:47318435-47318436	Weak transcription Strong transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
4	rs72497641	chr21:47318440-47318441	Weak transcription Strong transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
5	rs13053045	chr21:47318441-47318442	Weak transcription Strong transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
6	rs112132999	chr21:47318443-47318444	Weak transcription Strong transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
7	rs113306837	chr21:47318451-47318452	Weak transcription Strong transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
8	rs116888911	chr21:47318455-47318456	Weak transcription Strong transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
9	rs546531674	chr21:47318456-47318457	Weak transcription Strong transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
10	rs118014617	chr21:47318457-47318458	Weak transcription Strong transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
11	rs111300426	chr21:47318464-47318465	Weak transcription Strong transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
12	rs563910786	chr21:47318465-47318466	Weak transcription Strong transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
13	rs192629804	chr21:47318489-47318490	Weak transcription Strong transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
14	rs146103724	chr21:47318492-47318493	Weak transcription Strong transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
15	rs185415278	chr21:47318510-47318511	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
16	rs111586844	chr21:47318513-47318514	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
17	rs112246105	chr21:47318521-47318522	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
18	rs112611674	chr21:47318525-47318526	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
19	rs13046848	chr21:47318535-47318536	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
20	rs79605146	chr21:47318536-47318537	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
21	rs372811120	chr21:47318565-47318566	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
22	rs376324436	chr21:47318568-47318569	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
23	rs113720549	chr21:47318569-47318570	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
24	rs373524245	chr21:47318571-47318572	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
25	rs377445916	chr21:47318578-47318579	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
26	rs62213762	chr21:47318580-47318581	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
27	rs113058884	chr21:47318585-47318586	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
28	rs113495365	chr21:47318592-47318593	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
29	rs368028930	chr21:47318601-47318602	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
30	rs370778337	chr21:47318609-47318610	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
31	rs375253897	chr21:47318612-47318613	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
32	rs368439751	chr21:47318613-47318614	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
33	rs148870384	chr21:47318624-47318625	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
34	rs189938728	chr21:47318625-47318626	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
35	rs145608126	chr21:47318635-47318636	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs182580712	chr21:47318645-47318646	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs138118911	chr21:47318653-47318654	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs186073107	chr21:47318657-47318658	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs141226874	chr21:47318668-47318669	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs111468319	chr21:47318679-47318680	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs539678256	chr21:47318686-47318687	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs551264626	chr21:47318689-47318690	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs112441607	chr21:47318700-47318701	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs536862815	chr21:47318704-47318705	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs555171646	chr21:47318711-47318712	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs188190566	chr21:47318713-47318714	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs145529748	chr21:47318724-47318725	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs180717443	chr21:47318730-47318731	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs535617352	chr21:47318735-47318736	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs112411778	chr21:47318745-47318746	Weak transcription Strong transcription	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:22 , 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	chr21:47317800-47318600	Strong transcription	Spleen	Spleen
17	chr21:47317800-47322400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr21:47318000-47318800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr21:47318000-47320000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr21:47318600-47321000	Weak transcription	Spleen	Spleen
21	chr21:47318800-47319600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
22	chr21:47318800-47321200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links