Variant report

Variant	esv3450625
Chromosome Location	chr21:47419749-47419871
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CHD1	chr21:47419515-47420005	IMR90	lung:	n/a	n/a
2	POLR2A	chr21:47419548-47420512	U87	brain:	n/a	n/a
3	POLR2A	chr21:47419818-47419847	MCF-7	breast:	n/a	n/a
4	POLR2A	chr21:47419658-47420506	U87	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:46961078..46962785-chr21:47417789..47420284,2	K562	blood:

Variant related genes	Relation type
COL6A1	TF binding region
ENSG00000173638	chromatin interactions

Extended variants
information (count: 16 )
Associated
traits (count: 36 )

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs567337377	chr21:47419749-47419750	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs73908116	chr21:47419770-47419771	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs8130255	chr21:47419780-47419781	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs147235439	chr21:47419787-47419788	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs8126900	chr21:47419794-47419795	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs8131227	chr21:47419804-47419805	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs79767796	chr21:47419817-47419818	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs367631213	chr21:47419830-47419831	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs73159609	chr21:47419832-47419833	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs79982562	chr21:47419835-47419836	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs112799154	chr21:47419850-47419851	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs191923111	chr21:47419852-47419853	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs386819392	chr21:47419853-47419854	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs116867483	chr21:47419854-47419855	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs140498992	chr21:47419855-47419856	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs78135600	chr21:47419859-47419860	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	2 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:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:47403200-47424600	Weak transcription	Small Intestine	intestine
2	chr21:47403200-47425000	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr21:47404000-47424200	Strong transcription	H1 Cell Line	embryonic stem cell
4	chr21:47404000-47424600	Strong transcription	Aorta	Aorta
5	chr21:47404200-47425200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr21:47404200-47425200	Strong transcription	Muscle Satellite Cultured Cells	--
7	chr21:47405000-47423800	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr21:47405000-47425400	Weak transcription	Duodenum Mucosa	Duodenum
9	chr21:47405200-47425400	Strong transcription	HUES6 Cell Line	embryonic stem cell
10	chr21:47405200-47425400	Strong transcription	iPS-15b Cell Line	embryonic stem cell
11	chr21:47405200-47425800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr21:47405400-47423800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr21:47405400-47424800	Strong transcription	Fetal Brain Female	brain
14	chr21:47405400-47425200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr21:47405600-47419800	Strong transcription	Fetal Stomach	stomach
16	chr21:47405600-47423000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
17	chr21:47406400-47421400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr21:47406600-47425400	Weak transcription	Brain Cingulate Gyrus	brain
19	chr21:47407600-47425000	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr21:47408400-47425800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr21:47408600-47419800	Strong transcription	Brain Germinal Matrix	brain
22	chr21:47409000-47425200	Strong transcription	HUES48 Cell Line	embryonic stem cell
23	chr21:47409200-47425000	Strong transcription	Ovary	ovary
24	chr21:47409800-47426600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr21:47410000-47422600	Weak transcription	Liver	Liver
26	chr21:47411200-47432800	Weak transcription	Right Atrium	heart
27	chr21:47412400-47423000	Strong transcription	Colonic Mucosa	Colon
28	chr21:47412400-47426400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr21:47412600-47422400	Weak transcription	Brain Hippocampus Middle	brain
30	chr21:47412600-47425800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr21:47413600-47420200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr21:47413800-47425200	Strong transcription	NHLF	lung
33	chr21:47414000-47421200	Strong transcription	Spleen	Spleen
34	chr21:47414200-47424800	Strong transcription	Right Ventricle	heart
35	chr21:47414600-47421200	Strong transcription	Placenta	Placenta
36	chr21:47414800-47425200	Strong transcription	Osteobl	bone
37	chr21:47415200-47425200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr21:47415400-47420400	Strong transcription	Skeletal Muscle Male	skeletal muscle
39	chr21:47415400-47420800	Strong transcription	NHDF-Ad	bronchial
40	chr21:47415400-47422200	Weak transcription	HSMMtube	muscle
41	chr21:47415400-47423400	Weak transcription	HSMM	muscle
42	chr21:47415400-47424600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr21:47415400-47424600	Strong transcription	Adipose Nuclei	Adipose
44	chr21:47415400-47425000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr21:47415400-47425000	Weak transcription	Brain Anterior Caudate	brain
46	chr21:47415600-47425400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr21:47415800-47420000	Strong transcription	Fetal Muscle Leg	muscle
48	chr21:47415800-47420200	Strong transcription	Fetal Muscle Trunk	muscle
49	chr21:47416000-47425400	Strong transcription	Fetal Intestine Small	intestine
50	chr21:47416200-47422800	Strong transcription	Colon Smooth Muscle	Colon

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