Variant report

Variant	esv3321597
Chromosome Location	chr21:47407424-47408922
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr21:47401680..47403965-chr21:47408741..47410479,2	K562	blood:
2	chr21:47405747..47408135-chr21:47408185..47410527,3	K562	blood:
3	chr21:47401629..47403752-chr21:47406521..47408992,2	K562	blood:
4	chr21:47405747..47408135-chr21:47408185..47410437,2	K562	blood:
5	chr21:47407254..47409991-chr21:47416573..47418228,2	K562	blood:
6	chr21:47399588..47401782-chr21:47405993..47408923,2	MCF-7	breast:
7	chr21:47407254..47409991-chr21:47416573..47418228,3	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PCBP3-2	chr21:47407524-47407547	NONHSAT083006
2	lnc-PCBP3-2	chr21:47407023-47407433	NONHSAT083006

No data

Variant related genes	Relation type
ENSG00000142156	chromatin interactions

Extended variants
information (count: 112 )
Associated
traits (count: 36 )

Variant overlapped rSNPs/rCNVs (count:112 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs145849970	chr21:47407425-47407426	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
2	rs373366336	chr21:47407449-47407450	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs555848716	chr21:47407453-47407454	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs376320097	chr21:47407461-47407462	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs370715310	chr21:47407462-47407463	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs200908935	chr21:47407464-47407465	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs541060504	chr21:47407472-47407473	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs199815872	chr21:47407478-47407479	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs553368051	chr21:47407489-47407490	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs376511187	chr21:47407505-47407506	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs545656831	chr21:47407510-47407511	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs145473829	chr21:47407527-47407528	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
13	rs61735854	chr21:47407541-47407542	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs143396975	chr21:47407544-47407545	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
15	rs148364156	chr21:47407553-47407554	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs530969007	chr21:47407554-47407555	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs370641081	chr21:47407559-47407560	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs200902141	chr21:47407603-47407604	Weak transcription Strong transcription Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs200123113	chr21:47407606-47407607	Weak transcription Strong transcription Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs377616383	chr21:47407620-47407621	Weak transcription Strong transcription Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs528205558	chr21:47407677-47407678	Weak transcription Strong transcription Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs542286433	chr21:47407679-47407680	Weak transcription Strong transcription Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs571193258	chr21:47407680-47407681	Weak transcription Strong transcription Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs532024122	chr21:47407683-47407684	Weak transcription Strong transcription Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs201549465	chr21:47407684-47407685	Weak transcription Strong transcription Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs569174767	chr21:47407700-47407701	Weak transcription Strong transcription Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs536445624	chr21:47407701-47407702	Weak transcription Strong transcription Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs554847646	chr21:47407702-47407703	Weak transcription Strong transcription Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs66929103	chr21:47407704-47407705	Weak transcription Strong transcription Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs559323218	chr21:47407707-47407708	Weak transcription Strong transcription Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs528141497	chr21:47407724-47407725	Weak transcription Strong transcription Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs66912886	chr21:47407731-47407732	Weak transcription Strong transcription Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs187294154	chr21:47407741-47407742	Weak transcription Strong transcription Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs13047685	chr21:47407748-47407749	Weak transcription Strong transcription Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs184706765	chr21:47407753-47407754	Weak transcription Strong transcription Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs567748597	chr21:47407757-47407758	Weak transcription Strong transcription Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs575345850	chr21:47407774-47407775	Weak transcription Strong transcription Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs13050593	chr21:47407776-47407777	Weak transcription Strong transcription Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs530771811	chr21:47407796-47407797	Weak transcription Strong transcription Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs528398969	chr21:47407800-47407801	Weak transcription Strong transcription Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs535149501	chr21:47407801-47407802	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs13047801	chr21:47407817-47407818	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs567481164	chr21:47407819-47407820	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs571078285	chr21:47407823-47407824	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs536624942	chr21:47407842-47407843	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs546647057	chr21:47407845-47407846	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs529059705	chr21:47407846-47407847	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs370399968	chr21:47407848-47407849	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs375259624	chr21:47407917-47407918	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs368322771	chr21:47407939-47407940	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 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:152 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:47401200-47407600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr21:47402800-47407600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr21:47403200-47414600	Weak transcription	Brain Substantia Nigra	brain
4	chr21:47403200-47415200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr21:47403200-47424600	Weak transcription	Small Intestine	intestine
6	chr21:47403200-47425000	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr21:47403600-47409600	Weak transcription	Fetal Thymus	thymus
8	chr21:47403600-47414800	Strong transcription	Fetal Intestine Small	intestine
9	chr21:47404000-47407600	Genic enhancers	Placenta	Placenta
10	chr21:47404000-47424200	Strong transcription	H1 Cell Line	embryonic stem cell
11	chr21:47404000-47424600	Strong transcription	Aorta	Aorta
12	chr21:47404200-47407600	Transcr. at gene 5' and 3'	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr21:47404200-47407600	Genic enhancers	Ovary	ovary
14	chr21:47404200-47407600	Transcr. at gene 5' and 3'	NHDF-Ad	bronchial
15	chr21:47404200-47407800	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr21:47404200-47407800	Strong transcription	Brain Germinal Matrix	brain
17	chr21:47404200-47414400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr21:47404200-47425200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr21:47404200-47425200	Strong transcription	Muscle Satellite Cultured Cells	--
20	chr21:47404400-47407600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr21:47404400-47407600	Genic enhancers	Rectal Smooth Muscle	rectum
22	chr21:47404400-47409600	Weak transcription	Right Atrium	heart
23	chr21:47404400-47414600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr21:47404400-47419200	Strong transcription	Left Ventricle	heart
25	chr21:47404600-47407600	Strong transcription	Cortex derived primary cultured neurospheres	brain
26	chr21:47404600-47408600	Strong transcription	Fetal Muscle Trunk	muscle
27	chr21:47405000-47407600	Strong transcription	HUES48 Cell Line	embryonic stem cell
28	chr21:47405000-47407600	Genic enhancers	NH-A	brain
29	chr21:47405000-47407800	Strong transcription	Fetal Lung	lung
30	chr21:47405000-47409200	Weak transcription	Brain Angular Gyrus	brain
31	chr21:47405000-47414600	Weak transcription	Fetal Kidney	kidney
32	chr21:47405000-47417400	Weak transcription	Stomach Mucosa	stomach
33	chr21:47405000-47419400	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr21:47405000-47423800	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr21:47405000-47425400	Weak transcription	Duodenum Mucosa	Duodenum
36	chr21:47405200-47407600	Strong transcription	HUES64 Cell Line	embryonic stem cell
37	chr21:47405200-47407600	Strong transcription	Placenta Amnion	Placenta Amnion
38	chr21:47405200-47425400	Strong transcription	HUES6 Cell Line	embryonic stem cell
39	chr21:47405200-47425400	Strong transcription	iPS-15b Cell Line	embryonic stem cell
40	chr21:47405200-47425800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr21:47405400-47407600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr21:47405400-47407600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr21:47405400-47423800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr21:47405400-47424800	Strong transcription	Fetal Brain Female	brain
45	chr21:47405400-47425200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr21:47405600-47413200	Strong transcription	Osteobl	bone
47	chr21:47405600-47419800	Strong transcription	Fetal Stomach	stomach
48	chr21:47405600-47423000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
49	chr21:47405800-47407600	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr21:47405800-47407600	Strong transcription	Esophagus	oesophagus

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