Variant report

Variant	esv3444383
Chromosome Location	chr21:47635520-47635765
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr21:47635656-47635663	HepG2	liver:	n/a	n/a
2	POLR2A	chr21:47635344-47636239	K562	blood:	n/a	n/a
3	POLR2A	chr21:47635672-47636219	HepG2	liver:	n/a	n/a
4	POLR2A	chr21:47635459-47635635	K562	blood:	n/a	n/a
5	POLR2A	chr21:47635420-47636411	GM12878	blood:	n/a	n/a
6	TCF3	chr21:47635454-47635697	GM12878	blood:	n/a	n/a
7	ZNF263	chr21:47635630-47636152	HEK293-T-REx	kidney:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:47630285..47633645-chr21:47635626..47637637,3	MCF-7	breast:
2	chr21:47623773..47625690-chr21:47634053..47637606,3	MCF-7	breast:
3	chr21:47633154..47635764-chr21:47878363..47879985,2	MCF-7	breast:
4	chr21:47633762..47640190-chr21:47646866..47650293,7	MCF-7	breast:
5	chr21:47635188..47639010-chr21:47648913..47651565,3	K562	blood:
6	chr21:47634084..47637730-chr21:47641700..47644569,3	MCF-7	breast:
7	chr21:47634175..47636209-chr21:47667716..47669378,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000223901	TF binding region
ENSG00000160305	chromatin interactions
ENSG00000215424	chromatin interactions
ENSG00000160285	chromatin interactions

Extended variants
information (count: 20 )
Associated
traits (count: 36 )

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs60322177	chr21:47635545-47635546	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs199861151	chr21:47635552-47635553	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs2839152	chr21:47635577-47635578	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs376167481	chr21:47635578-47635579	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs369270111	chr21:47635592-47635593	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs373368510	chr21:47635593-47635594	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs188459967	chr21:47635610-47635611	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs9980968	chr21:47635627-47635628	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs144074356	chr21:47635630-47635631	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs79710966	chr21:47635631-47635632	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs541258281	chr21:47635633-47635634	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs114975335	chr21:47635645-47635646	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs140624314	chr21:47635653-47635654	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs201096401	chr21:47635654-47635655	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs372085420	chr21:47635660-47635661	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs201335609	chr21:47635667-47635668	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs143692945	chr21:47635686-47635687	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs556858478	chr21:47635702-47635703	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs11701729	chr21:47635713-47635714	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs567437873	chr21:47635716-47635717	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 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:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:47605200-47646200	Weak transcription	Psoas Muscle	Psoas
2	chr21:47605400-47646200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr21:47605400-47646200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr21:47606600-47639800	Strong transcription	Fetal Brain Female	brain
5	chr21:47607400-47645200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
6	chr21:47607400-47646200	Strong transcription	Fetal Stomach	stomach
7	chr21:47610000-47637600	Strong transcription	HUES64 Cell Line	embryonic stem cell
8	chr21:47610000-47644000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr21:47611600-47642400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr21:47611600-47643400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr21:47612000-47635600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr21:47612200-47644400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr21:47612200-47645600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr21:47612400-47644400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr21:47614200-47646000	Weak transcription	Fetal Brain Male	brain
16	chr21:47614200-47646200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr21:47617000-47640400	Weak transcription	Primary monocytes fromperipheralblood	blood
18	chr21:47618400-47643400	Strong transcription	NHEK	skin
19	chr21:47619200-47643400	Strong transcription	Sigmoid Colon	Sigmoid Colon
20	chr21:47621000-47641200	Weak transcription	Primary hematopoietic stem cells	blood
21	chr21:47622400-47638000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr21:47622400-47643200	Strong transcription	Liver	Liver
23	chr21:47622400-47643400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
24	chr21:47622600-47636600	Strong transcription	Colonic Mucosa	Colon
25	chr21:47622600-47637400	Strong transcription	Skeletal Muscle Female	skeletal muscle
26	chr21:47622600-47637600	Strong transcription	Skeletal Muscle Male	skeletal muscle
27	chr21:47622600-47637800	Strong transcription	HUES48 Cell Line	embryonic stem cell
28	chr21:47622600-47637800	Strong transcription	Duodenum Mucosa	Duodenum
29	chr21:47622600-47637800	Strong transcription	Gastric	stomach
30	chr21:47622600-47638000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr21:47622600-47643000	Strong transcription	Ovary	ovary
32	chr21:47622600-47643400	Strong transcription	Fetal Intestine Small	intestine
33	chr21:47622800-47636800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr21:47622800-47637600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr21:47622800-47638000	Strong transcription	Dnd41	blood
36	chr21:47622800-47639400	Strong transcription	Brain Germinal Matrix	brain
37	chr21:47622800-47642400	Strong transcription	Stomach Smooth Muscle	stomach
38	chr21:47622800-47643400	Strong transcription	H9 Cell Line	embryonic stem cell
39	chr21:47623000-47640800	Strong transcription	Muscle Satellite Cultured Cells	--
40	chr21:47623200-47643400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr21:47623200-47643400	Strong transcription	HUES6 Cell Line	embryonic stem cell
42	chr21:47623400-47642400	Strong transcription	Adipose Nuclei	Adipose
43	chr21:47623400-47644400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr21:47624800-47636200	Strong transcription	Lung	lung
45	chr21:47624800-47636600	Strong transcription	H1 Cell Line	embryonic stem cell
46	chr21:47624800-47639400	Strong transcription	Brain Anterior Caudate	brain
47	chr21:47624800-47639600	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr21:47624800-47642800	Strong transcription	Aorta	Aorta
49	chr21:47624800-47643000	Strong transcription	Thymus	Thymus
50	chr21:47624800-47643400	Strong transcription	NHLF	lung

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