Variant report

Variant	esv3367809
Chromosome Location	chr21:47682339-47682773
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF263	chr21:47682214-47682495	HEK293-T-REx	kidney:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:47679222..47682491-chr21:47688426..47691032,3	K562	blood:
2	chr21:47681818..47684216-chr21:47689100..47690855,2	K562	blood:
3	chr21:47681971..47687315-chr21:47701766..47706280,5	K562	blood:
4	chr21:47681311..47683636-chr21:47742237..47744496,2	K562	blood:
5	chr21:47670803..47673759-chr21:47680950..47683663,2	K562	blood:
6	chr21:47680616..47682212-chr21:47682299..47683872,2	MCF-7	breast:
7	chr21:47679763..47682789-chr21:47682949..47685079,3	K562	blood:
8	chr21:47668808..47671436-chr21:47681970..47684489,2	K562	blood:

No data

Variant related genes	Relation type
MCM3AP	TF binding region
ENSG00000160294	chromatin interactions
ENSG00000239415	chromatin interactions
ENSG00000160298	chromatin interactions
ENSG00000182362	chromatin interactions
ENSG00000160299	chromatin interactions

Extended variants
information (count: 24 )
Associated
traits (count: 36 )

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs554143471	chr21:47682340-47682341	Strong transcription Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
2	rs565698943	chr21:47682381-47682382	Strong transcription Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
3	rs17176513	chr21:47682428-47682429	Strong transcription Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs564992634	chr21:47682430-47682431	Strong transcription Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
5	rs17182913	chr21:47682435-47682436	Strong transcription Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
6	rs562443716	chr21:47682451-47682452	Strong transcription Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
7	rs17182906	chr21:47682455-47682456	Strong transcription Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs543648370	chr21:47682458-47682459	Strong transcription Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
9	rs17182899	chr21:47682475-47682476	Strong transcription Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
10	rs181382158	chr21:47682518-47682519	Strong transcription Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs115908421	chr21:47682524-47682525	Strong transcription Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs149834996	chr21:47682540-47682541	Strong transcription Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs560732251	chr21:47682569-47682570	Strong transcription Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs376598121	chr21:47682574-47682575	Strong transcription Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs551205458	chr21:47682608-47682609	Strong transcription Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs561346895	chr21:47682609-47682610	Strong transcription Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs4819220	chr21:47682620-47682621	Strong transcription Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs532929101	chr21:47682628-47682629	Strong transcription Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
19	rs12626725	chr21:47682653-47682654	Strong transcription Weak transcription	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs563610075	chr21:47682666-47682667	Strong transcription Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
21	rs6518286	chr21:47682677-47682678	Strong transcription Weak transcription	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs560306056	chr21:47682708-47682709	Strong transcription Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
23	rs148533236	chr21:47682713-47682714	Strong transcription Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
24	rs4818830	chr21:47682735-47682736	Strong transcription Weak transcription	Chromatin interactive region	5 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:143 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:47649800-47701600	Weak transcription	Right Atrium	heart
2	chr21:47650000-47705200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr21:47650800-47701000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr21:47650800-47701400	Strong transcription	Fetal Muscle Leg	muscle
5	chr21:47650800-47701600	Strong transcription	Fetal Stomach	stomach
6	chr21:47651000-47703200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr21:47651200-47701400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr21:47651600-47703000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr21:47651600-47703200	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr21:47651800-47701400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr21:47651800-47702600	Strong transcription	Osteobl	bone
12	chr21:47652000-47701000	Strong transcription	Duodenum Mucosa	Duodenum
13	chr21:47652000-47703000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
14	chr21:47652200-47701600	Strong transcription	Fetal Thymus	thymus
15	chr21:47652400-47685200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr21:47652400-47702000	Strong transcription	H9 Cell Line	embryonic stem cell
17	chr21:47652800-47702200	Strong transcription	HUES64 Cell Line	embryonic stem cell
18	chr21:47653000-47701600	Strong transcription	H1 Cell Line	embryonic stem cell
19	chr21:47653200-47696000	Strong transcription	HUES6 Cell Line	embryonic stem cell
20	chr21:47653200-47702000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr21:47653400-47686000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr21:47653600-47701800	Strong transcription	Primary monocytes fromperipheralblood	blood
23	chr21:47653600-47702400	Strong transcription	Primary neutrophils fromperipheralblood	blood
24	chr21:47658200-47702200	Strong transcription	Skeletal Muscle Female	skeletal muscle
25	chr21:47658400-47702800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr21:47658600-47682400	Strong transcription	Fetal Brain Female	brain
27	chr21:47658600-47696000	Strong transcription	Duodenum Smooth Muscle	Duodenum
28	chr21:47658600-47696000	Strong transcription	Rectal Mucosa Donor 29	rectum
29	chr21:47658600-47701400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr21:47658600-47702600	Strong transcription	Fetal Muscle Trunk	muscle
31	chr21:47658600-47703000	Strong transcription	Placenta	Placenta
32	chr21:47658600-47703200	Strong transcription	HUES48 Cell Line	embryonic stem cell
33	chr21:47658600-47703600	Strong transcription	Fetal Intestine Large	intestine
34	chr21:47658800-47682400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
35	chr21:47658800-47695800	Strong transcription	Sigmoid Colon	Sigmoid Colon
36	chr21:47658800-47696000	Strong transcription	Rectal Mucosa Donor 31	rectum
37	chr21:47658800-47699800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
38	chr21:47658800-47700600	Strong transcription	Stomach Smooth Muscle	stomach
39	chr21:47661800-47682400	Strong transcription	Colon Smooth Muscle	Colon
40	chr21:47662600-47701400	Strong transcription	Fetal Intestine Small	intestine
41	chr21:47664600-47682400	Strong transcription	Brain Anterior Caudate	brain
42	chr21:47665200-47703600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr21:47665400-47701400	Strong transcription	Thymus	Thymus
44	chr21:47666800-47701800	Strong transcription	Liver	Liver
45	chr21:47667800-47682400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr21:47669600-47682800	Strong transcription	Fetal Lung	lung
47	chr21:47670800-47682800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr21:47670800-47701000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr21:47671200-47682400	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr21:47671600-47684000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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