Variant report

Variant	esv3336899
Chromosome Location	chr21:48082084-48082660
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:48052631..48057186-chr21:48078871..48083170,5	MCF-7	breast:
2	chr21:48081818..48084383-chr21:48086010..48087998,2	MCF-7	breast:
3	chr21:48054258..48057073-chr21:48079765..48082823,3	MCF-7	breast:
4	chr21:48053543..48058001-chr21:48077675..48082884,7	K562	blood:
5	chr21:48054236..48058001-chr21:48079083..48082780,4	K562	blood:
6	chr21:48069459..48071150-chr21:48080115..48082921,2	MCF-7	breast:
7	chr21:48081260..48084193-chr21:48084438..48088004,4	MCF-7	breast:
8	chr21:48069135..48075784-chr21:48076835..48082817,8	MCF-7	breast:
9	chr21:48075305..48080605-chr21:48080906..48086226,8	K562	blood:
10	chr21:48076560..48080046-chr21:48082031..48085407,3	MCF-7	breast:
11	chr21:48079857..48085039-chr21:48086180..48089656,6	K562	blood:

No data

Variant related genes	Relation type
ENSG00000230982	chromatin interactions
ENSG00000160310	chromatin interactions

Extended variants
information (count: 28 )
Associated
traits (count: 36 )

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558949736	chr21:48082094-48082095	Weak transcription Strong transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs140591621	chr21:48082133-48082134	Weak transcription Strong transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs115064648	chr21:48082198-48082199	Weak transcription Strong transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs184078432	chr21:48082229-48082230	Weak transcription Genic enhancers Strong transcription Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs556262629	chr21:48082233-48082234	Weak transcription Genic enhancers Strong transcription Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs188373270	chr21:48082241-48082242	Weak transcription Genic enhancers Strong transcription Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs80159617	chr21:48082242-48082243	Weak transcription Genic enhancers Strong transcription Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	mRNA abundance
8	rs553736556	chr21:48082254-48082255	Weak transcription Genic enhancers Strong transcription Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs4819272	chr21:48082324-48082325	Weak transcription Genic enhancers Strong transcription Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs545475939	chr21:48082329-48082330	Weak transcription Genic enhancers Strong transcription Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs73907585	chr21:48082332-48082333	Weak transcription Genic enhancers Strong transcription Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs374456566	chr21:48082351-48082352	Weak transcription Genic enhancers Strong transcription Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs181579587	chr21:48082367-48082368	Weak transcription Genic enhancers Strong transcription Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs543507133	chr21:48082376-48082377	Weak transcription Genic enhancers Strong transcription Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs115601435	chr21:48082393-48082394	Weak transcription Genic enhancers Strong transcription Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs530184665	chr21:48082404-48082405	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs548807887	chr21:48082453-48082454	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs567043443	chr21:48082457-48082458	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs528022744	chr21:48082470-48082471	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs552129038	chr21:48082475-48082476	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs570484281	chr21:48082487-48082488	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs537864954	chr21:48082510-48082511	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs370162228	chr21:48082527-48082528	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs532770183	chr21:48082534-48082535	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs144621856	chr21:48082547-48082548	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs568218980	chr21:48082568-48082569	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs112988622	chr21:48082577-48082578	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs116912807	chr21:48082656-48082657	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	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:165 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:48060200-48085800	Strong transcription	Placenta	Placenta
2	chr21:48070600-48086800	Weak transcription	Fetal Heart	heart
3	chr21:48074000-48084200	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr21:48074200-48085000	Weak transcription	Stomach Mucosa	stomach
5	chr21:48074800-48087000	Weak transcription	Small Intestine	intestine
6	chr21:48075200-48087400	Weak transcription	Hela-S3	cervix
7	chr21:48075400-48086800	Strong transcription	Primary neutrophils fromperipheralblood	blood
8	chr21:48075600-48082200	Weak transcription	Colonic Mucosa	Colon
9	chr21:48075600-48086600	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr21:48076000-48087000	Weak transcription	GM12878-XiMat	blood
11	chr21:48076600-48086000	Strong transcription	Dnd41	blood
12	chr21:48076800-48087000	Weak transcription	Primary B cells from peripheral blood	blood
13	chr21:48077200-48085800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr21:48077200-48086800	Weak transcription	A549	lung
15	chr21:48077400-48085600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr21:48077600-48086400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr21:48078000-48087400	Weak transcription	Fetal Kidney	kidney
18	chr21:48078400-48083400	Weak transcription	K562	blood
19	chr21:48079000-48082200	Weak transcription	Fetal Lung	lung
20	chr21:48079000-48083200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr21:48079200-48082200	Weak transcription	Gastric	stomach
22	chr21:48079200-48082400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr21:48079200-48082800	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr21:48079200-48083000	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr21:48079200-48083200	Weak transcription	Duodenum Mucosa	Duodenum
26	chr21:48079200-48083200	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr21:48079200-48083800	Weak transcription	Primary B cells from cord blood	blood
28	chr21:48079200-48083800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr21:48079200-48084200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr21:48079200-48086600	Weak transcription	Fetal Thymus	thymus
31	chr21:48079200-48087000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr21:48079400-48083200	Weak transcription	Left Ventricle	heart
33	chr21:48079400-48087000	Weak transcription	NH-A	brain
34	chr21:48079400-48087400	Weak transcription	NHDF-Ad	bronchial
35	chr21:48079600-48082400	Genic enhancers	Primary T cells fromperipheralblood	blood
36	chr21:48079800-48082800	Weak transcription	Fetal Intestine Small	intestine
37	chr21:48080200-48083600	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr21:48080600-48083200	Weak transcription	Liver	Liver
39	chr21:48080800-48082200	Weak transcription	Primary monocytes fromperipheralblood	blood
40	chr21:48080800-48082200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr21:48080800-48082600	Weak transcription	Lung	lung
42	chr21:48080800-48083200	Weak transcription	Pancreas	Pancrea
43	chr21:48080800-48084400	Weak transcription	HepG2	liver
44	chr21:48081000-48082200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr21:48081000-48082200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
46	chr21:48081000-48082600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr21:48081000-48082600	Weak transcription	Primary T cells from cord blood	blood
48	chr21:48081000-48083200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr21:48081000-48083600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr21:48081000-48086600	Weak transcription	Primary T killer memory cells from peripheral blood	blood

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