Variant report

Variant	esv3430733
Chromosome Location	chr21:47701090-47701494
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:7)
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	POLR2A	chr21:47701071-47701228	HepG2	liver:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr21:47700722..47725192-chr21:47732201..47746452,77	K562	blood:
2	chr21:47697232..47702127-chr21:47702143..47707359,9	MCF-7	breast:
3	chr21:47648362..47651215-chr21:47700227..47702090,2	K562	blood:
4	chr21:47692022..47694683-chr21:47698277..47702133,4	K562	blood:
5	chr21:47647131..47650743-chr21:47698530..47703337,5	MCF-7	breast:
6	chr21:47698481..47701314-chr21:47707160..47708823,2	MCF-7	breast:
7	chr21:47632312..47634334-chr21:47699832..47701418,2	MCF-7	breast:

No data

Variant related genes	Relation type
YBEY	TF binding region
ENSG00000215424	chromatin interactions
ENSG00000160294	chromatin interactions
ENSG00000160285	chromatin interactions
ENSG00000160298	chromatin interactions
ENSG00000182362	chromatin interactions
ENSG00000160299	chromatin interactions

Extended variants
information (count: 15 )
Associated
traits (count: 36 )

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs372305045	chr21:47701127-47701128	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
2	rs139307517	chr21:47701131-47701132	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
3	rs75692298	chr21:47701202-47701203	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
4	rs117174423	chr21:47701218-47701219	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
5	rs144095140	chr21:47701220-47701221	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
6	rs546272894	chr21:47701238-47701239	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
7	rs377261858	chr21:47701291-47701292	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
8	rs571555466	chr21:47701307-47701308	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
9	rs538530438	chr21:47701342-47701343	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
10	rs369953047	chr21:47701381-47701382	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
11	rs556765916	chr21:47701401-47701402	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
12	rs13050387	chr21:47701423-47701424	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs536005984	chr21:47701450-47701451	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
14	rs372696799	chr21:47701477-47701478	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
15	rs13046834	chr21:47701485-47701486	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	6 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:165 , 50 per page) page: 1 2 3 4

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	chr21:47650800-47701400	Strong transcription	Fetal Muscle Leg	muscle
4	chr21:47650800-47701600	Strong transcription	Fetal Stomach	stomach
5	chr21:47651000-47703200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr21:47651200-47701400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr21:47651600-47703000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr21:47651600-47703200	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr21:47651800-47701400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr21:47651800-47702600	Strong transcription	Osteobl	bone
11	chr21:47652000-47703000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
12	chr21:47652200-47701600	Strong transcription	Fetal Thymus	thymus
13	chr21:47652400-47702000	Strong transcription	H9 Cell Line	embryonic stem cell
14	chr21:47652800-47702200	Strong transcription	HUES64 Cell Line	embryonic stem cell
15	chr21:47653000-47701600	Strong transcription	H1 Cell Line	embryonic stem cell
16	chr21:47653200-47702000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr21:47653600-47701800	Strong transcription	Primary monocytes fromperipheralblood	blood
18	chr21:47653600-47702400	Strong transcription	Primary neutrophils fromperipheralblood	blood
19	chr21:47658200-47702200	Strong transcription	Skeletal Muscle Female	skeletal muscle
20	chr21:47658400-47702800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr21:47658600-47701400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr21:47658600-47702600	Strong transcription	Fetal Muscle Trunk	muscle
23	chr21:47658600-47703000	Strong transcription	Placenta	Placenta
24	chr21:47658600-47703200	Strong transcription	HUES48 Cell Line	embryonic stem cell
25	chr21:47658600-47703600	Strong transcription	Fetal Intestine Large	intestine
26	chr21:47662600-47701400	Strong transcription	Fetal Intestine Small	intestine
27	chr21:47665200-47703600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr21:47665400-47701400	Strong transcription	Thymus	Thymus
29	chr21:47666800-47701800	Strong transcription	Liver	Liver
30	chr21:47671600-47703000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr21:47674000-47701400	Strong transcription	Lung	lung
32	chr21:47674600-47701400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr21:47674800-47701400	Strong transcription	Primary B cells from peripheral blood	blood
34	chr21:47675400-47701800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
35	chr21:47676000-47701400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr21:47676200-47701400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr21:47683200-47702000	Strong transcription	Muscle Satellite Cultured Cells	--
38	chr21:47683200-47702200	Strong transcription	Skeletal Muscle Male	skeletal muscle
39	chr21:47683600-47701200	Strong transcription	HepG2	liver
40	chr21:47683600-47701400	Strong transcription	Primary B cells from cord blood	blood
41	chr21:47683600-47701600	Strong transcription	Ovary	ovary
42	chr21:47683600-47701800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr21:47683800-47701200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr21:47683800-47701400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr21:47683800-47701800	Strong transcription	Left Ventricle	heart
46	chr21:47683800-47701800	Strong transcription	HUVEC	blood vessel
47	chr21:47683800-47703000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
48	chr21:47683800-47703200	Strong transcription	GM12878-XiMat	blood
49	chr21:47684000-47702000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr21:47684200-47701400	Strong transcription	Spleen	Spleen

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