Variant report

Variant	esv3499129
Chromosome Location	chr21:47409857-47410033
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:47409850..47411682-chr21:47705051..47707715,2	K562	blood:
2	chr21:47407254..47409991-chr21:47416573..47418228,3	K562	blood:
3	chr21:47405747..47408135-chr21:47408185..47410437,2	K562	blood:
4	chr21:47405747..47408135-chr21:47408185..47410527,3	K562	blood:
5	chr21:47401680..47403965-chr21:47408741..47410479,2	K562	blood:
6	chr21:47409518..47412170-chr21:47436887..47438560,2	MCF-7	breast:
7	chr21:47407254..47409991-chr21:47416573..47418228,2	K562	blood:

Variant related genes	Relation type
ENSG00000142156	chromatin interactions
ENSG00000182362	chromatin interactions
ENSG00000160294	chromatin interactions

Extended variants
information (count: 11 )
Associated
traits (count: 36 )

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552124936	chr21:47409882-47409883	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs531356841	chr21:47409910-47409911	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs370657858	chr21:47409934-47409935	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs373874954	chr21:47409939-47409940	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs376860429	chr21:47409963-47409964	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs530166850	chr21:47409973-47409974	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs7282375	chr21:47409974-47409975	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs548539116	chr21:47409980-47409981	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs566726575	chr21:47410002-47410003	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs189163830	chr21:47410008-47410009	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs552556163	chr21:47410012-47410013	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 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:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:47403200-47414600	Weak transcription	Brain Substantia Nigra	brain
2	chr21:47403200-47415200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr21:47403200-47424600	Weak transcription	Small Intestine	intestine
4	chr21:47403200-47425000	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr21:47403600-47414800	Strong transcription	Fetal Intestine Small	intestine
6	chr21:47404000-47424200	Strong transcription	H1 Cell Line	embryonic stem cell
7	chr21:47404000-47424600	Strong transcription	Aorta	Aorta
8	chr21:47404200-47414400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr21:47404200-47425200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr21:47404200-47425200	Strong transcription	Muscle Satellite Cultured Cells	--
11	chr21:47404400-47414600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr21:47404400-47419200	Strong transcription	Left Ventricle	heart
13	chr21:47405000-47414600	Weak transcription	Fetal Kidney	kidney
14	chr21:47405000-47417400	Weak transcription	Stomach Mucosa	stomach
15	chr21:47405000-47419400	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr21:47405000-47423800	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr21:47405000-47425400	Weak transcription	Duodenum Mucosa	Duodenum
18	chr21:47405200-47425400	Strong transcription	HUES6 Cell Line	embryonic stem cell
19	chr21:47405200-47425400	Strong transcription	iPS-15b Cell Line	embryonic stem cell
20	chr21:47405200-47425800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr21:47405400-47423800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr21:47405400-47424800	Strong transcription	Fetal Brain Female	brain
23	chr21:47405400-47425200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr21:47405600-47413200	Strong transcription	Osteobl	bone
25	chr21:47405600-47419800	Strong transcription	Fetal Stomach	stomach
26	chr21:47405600-47423000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
27	chr21:47405800-47414400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr21:47406200-47412400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr21:47406400-47411600	Strong transcription	Adipose Nuclei	Adipose
30	chr21:47406400-47421400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr21:47406600-47425400	Weak transcription	Brain Cingulate Gyrus	brain
32	chr21:47406800-47410400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
33	chr21:47407000-47411600	Weak transcription	Brain Hippocampus Middle	brain
34	chr21:47407000-47414400	Strong transcription	Fetal Intestine Large	intestine
35	chr21:47407400-47410200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr21:47407400-47410600	Weak transcription	Brain Anterior Caudate	brain
37	chr21:47407400-47411800	Weak transcription	Pancreas	Pancrea
38	chr21:47407400-47413800	Weak transcription	HSMM	muscle
39	chr21:47407600-47410000	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr21:47407600-47410600	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr21:47407600-47410600	Weak transcription	NH-A	brain
42	chr21:47407600-47414000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr21:47407600-47416400	Weak transcription	Esophagus	oesophagus
44	chr21:47407600-47425000	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr21:47407800-47412000	Strong transcription	NHLF	lung
46	chr21:47408200-47410000	Strong transcription	Colon Smooth Muscle	Colon
47	chr21:47408200-47412800	Strong transcription	Right Ventricle	heart
48	chr21:47408400-47411000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr21:47408400-47411200	Transcr. at gene 5' and 3'	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr21:47408400-47412000	Strong transcription	Duodenum Smooth Muscle	Duodenum

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