Variant report

Variant	esv2014405
Chromosome Location	chr21:47857030-47857440
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:20)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:20 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MYC	chr21:47857215-47857288	GM12878	blood:	n/a	n/a
2	MYC	chr21:47857214-47857372	MCF-7	breast:	n/a	n/a
3	POLR2A	chr21:47857262-47857327	HUVEC	blood vessel:	n/a	n/a
4	POLR2A	chr21:47857068-47857121	MCF-7	breast:	n/a	n/a
5	POLR2A	chr21:47857203-47857582	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr21:47856536-47857487	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr21:47857252-47857316	MCF-7	breast:	n/a	n/a
8	POLR2A	chr21:47857389-47857395	MCF-7	breast:	n/a	n/a
9	POLR2A	chr21:47857124-47857144	MCF-7	breast:	n/a	n/a
10	POLR2A	chr21:47857156-47857385	MCF-7	breast:	n/a	n/a
11	POLR2A	chr21:47857133-47857400	K562	blood:	n/a	n/a
12	POLR2A	chr21:47857189-47857430	MCF-7	breast:	n/a	n/a
13	POLR2A	chr21:47856797-47857954	K562	blood:	n/a	n/a
14	POLR2A	chr21:47857159-47857163	MCF-7	breast:	n/a	n/a
15	POLR2A	chr21:47857166-47857262	ProgFib	skin:	n/a	n/a
16	POLR2A	chr21:47857354-47857490	HUVEC	blood vessel:	n/a	n/a
17	POLR2A	chr21:47857061-47857471	K562	blood:	n/a	n/a
18	POLR2A	chr21:47856778-47857193	Hela-S3	cervix:	n/a	n/a
19	POLR2A	chr21:47856951-47857094	K562	blood:	n/a	n/a
20	SPI1	chr21:47856892-47857271	HL-60	blood:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:47856273..47858659-chr21:47860032..47862884,2	K562	blood:
2	chr21:47851003..47853080-chr21:47856086..47858235,2	K562	blood:
3	chr21:47856507..47858157-chr21:47860635..47863396,2	MCF-7	breast:

No data

Variant related genes	Relation type
PCNT	TF binding region
ENSG00000160299	chromatin interactions

Extended variants
information (count: 25 )
Associated
traits (count: 36 )

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs373468550	chr21:47857043-47857044	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs573768259	chr21:47857051-47857052	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs150173624	chr21:47857053-47857054	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs553277722	chr21:47857076-47857077	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs375021682	chr21:47857077-47857078	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs578013273	chr21:47857092-47857093	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs544984318	chr21:47857096-47857097	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs182369322	chr21:47857102-47857103	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs535727566	chr21:47857140-47857141	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs530473127	chr21:47857151-47857152	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs375470783	chr21:47857174-47857175	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs368811565	chr21:47857200-47857201	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs542699473	chr21:47857206-47857207	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs555676246	chr21:47857211-47857212	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs529423148	chr21:47857212-47857213	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs56962680	chr21:47857243-47857244	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs141399662	chr21:47857271-47857272	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs559582092	chr21:47857323-47857324	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs113343057	chr21:47857392-47857393	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	mRNA abundance
20	rs551315585	chr21:47857393-47857394	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs570029442	chr21:47857394-47857395	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs537089233	chr21:47857411-47857412	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs549436045	chr21:47857417-47857418	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs77464544	chr21:47857428-47857429	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	mRNA abundance
25	rs7276409	chr21:47857440-47857441	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

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:138 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:47775600-47857600	Weak transcription	Stomach Mucosa	stomach
2	chr21:47803200-47872400	Weak transcription	Fetal Kidney	kidney
3	chr21:47814400-47861000	Weak transcription	Fetal Brain Male	brain
4	chr21:47827400-47866600	Strong transcription	Fetal Stomach	stomach
5	chr21:47828000-47863200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr21:47828600-47872400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr21:47829400-47862600	Strong transcription	Skeletal Muscle Female	skeletal muscle
8	chr21:47829400-47867800	Strong transcription	Cortex derived primary cultured neurospheres	brain
9	chr21:47829600-47862800	Strong transcription	Skeletal Muscle Male	skeletal muscle
10	chr21:47829600-47864000	Strong transcription	Fetal Intestine Small	intestine
11	chr21:47830200-47862800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr21:47830400-47862800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr21:47831000-47857600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr21:47833400-47863400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
15	chr21:47834000-47868200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr21:47834200-47868200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr21:47836800-47872400	Weak transcription	Right Atrium	heart
18	chr21:47838800-47862800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr21:47843400-47867400	Strong transcription	Dnd41	blood
20	chr21:47843800-47857600	Weak transcription	HSMM	muscle
21	chr21:47843800-47862400	Strong transcription	Brain Hippocampus Middle	brain
22	chr21:47843800-47867600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr21:47843800-47868400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr21:47844000-47864400	Strong transcription	Gastric	stomach
25	chr21:47844200-47862200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr21:47844200-47866800	Strong transcription	Brain Germinal Matrix	brain
27	chr21:47844200-47867400	Strong transcription	Fetal Brain Female	brain
28	chr21:47844800-47862400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr21:47844800-47865800	Strong transcription	Duodenum Mucosa	Duodenum
30	chr21:47844800-47867400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr21:47845000-47857200	Strong transcription	Placenta	Placenta
32	chr21:47845000-47862800	Strong transcription	Left Ventricle	heart
33	chr21:47845200-47862800	Strong transcription	Right Ventricle	heart
34	chr21:47845200-47863800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr21:47845200-47867400	Strong transcription	Thymus	Thymus
36	chr21:47845400-47867400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr21:47845600-47861800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
38	chr21:47845600-47867200	Strong transcription	Fetal Muscle Leg	muscle
39	chr21:47845600-47877400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
40	chr21:47846400-47863200	Strong transcription	Primary T helper cells fromperipheralblood	blood
41	chr21:47846400-47865600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr21:47846600-47864200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr21:47847000-47865600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr21:47847000-47865600	Strong transcription	Liver	Liver
45	chr21:47847200-47864000	Strong transcription	Ovary	ovary
46	chr21:47847600-47862400	Strong transcription	Primary T helper cells PMA-I stimulated	--
47	chr21:47847600-47866800	Strong transcription	HUES64 Cell Line	embryonic stem cell
48	chr21:47847800-47863400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
49	chr21:47848200-47863800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr21:47850000-47863200	Strong transcription	iPS-15b Cell Line	embryonic stem cell

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