Variant report

Variant	esv2320022
Chromosome Location	chr21:47712268-47712786
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:1)
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	chr21:47705312..47710550-chr21:47711386..47716259,4	K562	blood:
2	chr21:47703549..47712907-chr21:47732716..47739888,14	MCF-7	breast:
3	chr21:47709790..47713110-chr21:47741267..47744584,4	MCF-7	breast:
4	chr21:47700722..47725192-chr21:47732201..47746452,77	K562	blood:
5	chr21:47702524..47712328-chr21:47732975..47746274,46	K562	blood:
6	chr21:47706415..47708286-chr21:47708333..47712836,4	K562	blood:
7	chr21:47712217..47713877-chr21:47743379..47745476,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PCNT-2	chr21:47712679-47713546	NONHSAT083055

No data

Variant related genes	Relation type
ENSG00000160299	chromatin interactions
ENSG00000160294	chromatin interactions
ENSG00000160298	chromatin interactions
ENSG00000182362	chromatin interactions

Extended variants
information (count: 58 )
Associated
traits (count: 36 )

Variant overlapped rSNPs/rCNVs (count:58 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540147926	chr21:47712275-47712276	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs564792456	chr21:47712317-47712318	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs369338261	chr21:47712340-47712341	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs143908416	chr21:47712341-47712342	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs570087163	chr21:47712357-47712358	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs116043066	chr21:47712363-47712364	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs146863497	chr21:47712364-47712365	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs567672050	chr21:47712375-47712376	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs73388635	chr21:47712389-47712390	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs553748167	chr21:47712393-47712394	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs192215082	chr21:47712404-47712405	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs4819226	chr21:47712412-47712413	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs117827938	chr21:47712427-47712428	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs182676123	chr21:47712428-47712429	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs185162300	chr21:47712431-47712432	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs28555547	chr21:47712434-47712435	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs554206336	chr21:47712435-47712436	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs182536583	chr21:47712441-47712442	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs187009504	chr21:47712448-47712449	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs116827558	chr21:47712454-47712455	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	mRNA abundance
21	rs9983717	chr21:47712460-47712461	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	mRNA abundance
22	rs199702380	chr21:47712462-47712463	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs697806	chr21:47712470-47712471	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs111428770	chr21:47712478-47712479	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs111686392	chr21:47712497-47712498	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs144418600	chr21:47712500-47712501	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs148791876	chr21:47712501-47712502	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs4819228	chr21:47712505-47712506	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs3175286	chr21:47712516-47712517	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs367724939	chr21:47712522-47712523	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs371286312	chr21:47712528-47712529	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs697804	chr21:47712534-47712535	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs697805	chr21:47712536-47712537	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs4819232	chr21:47712544-47712545	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs71191666	chr21:47712552-47712553	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs71319737	chr21:47712575-47712576	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs77891381	chr21:47712590-47712591	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs373469257	chr21:47712602-47712603	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs57619338	chr21:47712608-47712609	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs57900452	chr21:47712610-47712611	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs1061071	chr21:47712612-47712613	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs200465128	chr21:47712618-47712619	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs9983893	chr21:47712626-47712627	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs562718768	chr21:47712640-47712641	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs370631028	chr21:47712653-47712654	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs71326305	chr21:47712664-47712665	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs79222549	chr21:47712670-47712671	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs1061068	chr21:47712672-47712673	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs1061069	chr21:47712674-47712675	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs1061070	chr21:47712676-47712677	Weak transcription	Chromatin interactive region	4 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:207 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:47707000-47715200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr21:47707000-47717400	Weak transcription	Small Intestine	intestine
3	chr21:47707200-47714800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr21:47707200-47715000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr21:47707200-47715800	Weak transcription	Right Atrium	heart
6	chr21:47707200-47717400	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr21:47707400-47714600	Weak transcription	Stomach Mucosa	stomach
8	chr21:47707400-47715800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr21:47707400-47717200	Weak transcription	Psoas Muscle	Psoas
10	chr21:47707600-47715200	Weak transcription	Fetal Heart	heart
11	chr21:47708000-47714200	Weak transcription	Fetal Brain Male	brain
12	chr21:47708200-47715800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr21:47709800-47712400	Strong transcription	Fetal Muscle Trunk	muscle
14	chr21:47710000-47717400	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr21:47710000-47727600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr21:47710200-47716000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr21:47710200-47720400	Weak transcription	Hela-S3	cervix
18	chr21:47711000-47712400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr21:47711000-47712400	Strong transcription	HUES64 Cell Line	embryonic stem cell
20	chr21:47711000-47712400	Strong transcription	Skeletal Muscle Male	skeletal muscle
21	chr21:47711000-47712600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr21:47711000-47712600	Strong transcription	Fetal Muscle Leg	muscle
23	chr21:47711200-47712400	Strong transcription	H1 Cell Line	embryonic stem cell
24	chr21:47711200-47712400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr21:47711200-47712400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
26	chr21:47711200-47712400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
27	chr21:47711200-47712400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr21:47711200-47712400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr21:47711200-47712400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr21:47711200-47712400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
31	chr21:47711200-47712400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr21:47711200-47712400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr21:47711200-47712400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr21:47711200-47712400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr21:47711200-47712400	Strong transcription	Cortex derived primary cultured neurospheres	brain
36	chr21:47711200-47712400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr21:47711200-47712400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr21:47711200-47712400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr21:47711200-47712400	Strong transcription	Adipose Nuclei	Adipose
40	chr21:47711200-47712400	Strong transcription	Liver	Liver
41	chr21:47711200-47712400	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr21:47711200-47712400	Strong transcription	Fetal Intestine Large	intestine
43	chr21:47711200-47712400	ZNF genes & repeats	Fetal Thymus	thymus
44	chr21:47711200-47712400	Strong transcription	Rectal Mucosa Donor 31	rectum
45	chr21:47711200-47712400	Strong transcription	Skeletal Muscle Female	skeletal muscle
46	chr21:47711200-47712400	Strong transcription	Stomach Smooth Muscle	stomach
47	chr21:47711200-47712400	Strong transcription	Dnd41	blood
48	chr21:47711200-47712400	ZNF genes & repeats	GM12878-XiMat	blood
49	chr21:47711200-47712400	Genic enhancers	HepG2	liver
50	chr21:47711200-47712600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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