Variant report

Variant	esv3406273
Chromosome Location	chr21:45638565-45638858
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:45637599..45639295-chr21:45647938..45650241,2	MCF-7	breast:
2	chr21:45638138..45641604-chr21:45643124..45645379,3	MCF-7	breast:
3	chr21:45634893..45639040-chr21:45644730..45647153,4	K562	blood:
4	chr21:45628810..45630554-chr21:45636671..45638693,2	K562	blood:
5	chr21:45637636..45640956-chr21:45661307..45664168,3	MCF-7	breast:
6	chr21:45636499..45639520-chr21:45653196..45656118,3	K562	blood:
7	chr21:45638024..45640421-chr21:45658228..45660769,4	MCF-7	breast:
8	chr21:45634893..45639040-chr21:45644730..45647153,3	K562	blood:
9	chr21:45631740..45633911-chr21:45635590..45640208,4	MCF-7	breast:
10	chr21:45637874..45640737-chr21:45652531..45655334,2	MCF-7	breast:
11	chr21:45638620..45641640-chr21:45644035..45648127,5	MCF-7	breast:
12	chr21:45626500..45630389-chr21:45636831..45640533,5	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000160223	chromatin interactions
ENSG00000232698	chromatin interactions

Extended variants
information (count: 9 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2838531	chr21:45638586-45638587	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs142860392	chr21:45638593-45638594	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs574431066	chr21:45638599-45638600	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs554051319	chr21:45638641-45638642	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs4143384	chr21:45638684-45638685	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs532542408	chr21:45638685-45638686	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs116622188	chr21:45638741-45638742	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs8130302	chr21:45638800-45638801	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs543958786	chr21:45638827-45638828	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:100)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Cancer	16751803	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Down syndrome	17412756	CNVD
Down syndrome	17576883	CNVD
Acute promyelocytic leukemia	19109227	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	17387387	CNVD
Renal cell carcinoma	19461508	CNVD
Seminomas	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Prostate cancer	19156837	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
lymphocytic leukemia	21291569	CNVD
Melanoma	18172304	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
Chronic lymphocytic leukemia	20421269	CNVD
Wilms tumour	21544195	CNVD
Ewing''s sarcoma	17952124	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute myeloid leukemia	16864856	CNVD
Mental retardation	21031080	CNVD
Polymicrogyria	21031080	CNVD
periventricular nodular heterotopia	21031080	CNVD
Myelodysplastic syndrome	21606161	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Autism	18414403	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Breast cancer	21858162	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	17899364	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	20473283	CNVD
Chordoma	18071362	CNVD
Glioblastoma multiforme	18628472	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-syndromic sensorineural hearing loss	17457615	CNVD
Ewing''s sarcoma	21437220	CNVD
Lung adenocarcinoma	17086460	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Ovarian neoplasms	16753589	CNVD
Non-small cell lung cancer	21829676	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Gastric adenocarcinoma	19115996	CNVD
Acute myeloid leukemia	21358987	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Prostate cancer	23341502	CNVD
Ovarian cancer	21720365	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	21251322	CNVD
Non-syndromic sensorineural hearing loss	18496225	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 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
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	17142309	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Ewing''s sarcoma	18628472	CNVD
Leukemia	18628472	CNVD
small cell lung cancer	17426248	CNVD
Ependymoma	20639864	CNVD
Breast cancer	21364760	CNVD
Down syndrome	21154855	CNVD

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45628600-45638600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
2	chr21:45628600-45639400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr21:45628600-45659600	Weak transcription	Right Atrium	heart
4	chr21:45628800-45646800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr21:45632200-45640000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr21:45632200-45659600	Weak transcription	Fetal Kidney	kidney
7	chr21:45632800-45640400	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr21:45632800-45646200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr21:45635200-45639000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr21:45635200-45639400	Weak transcription	HUVEC	blood vessel
11	chr21:45635600-45638600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr21:45636200-45640600	Enhancers	Fetal Muscle Leg	muscle
13	chr21:45636800-45639600	Enhancers	Fetal Muscle Trunk	muscle
14	chr21:45637000-45639000	Enhancers	Rectal Mucosa Donor 31	rectum
15	chr21:45637200-45639200	Enhancers	Colonic Mucosa	Colon
16	chr21:45637200-45639200	Enhancers	Sigmoid Colon	Sigmoid Colon
17	chr21:45637200-45642000	Enhancers	Primary B cells from cord blood	blood
18	chr21:45637400-45640200	Enhancers	Fetal Intestine Small	intestine
19	chr21:45637600-45639400	Enhancers	Stomach Mucosa	stomach
20	chr21:45637600-45641200	Enhancers	Duodenum Mucosa	Duodenum
21	chr21:45637600-45641600	Enhancers	Primary B cells from peripheral blood	blood
22	chr21:45637600-45646400	Weak transcription	Gastric	stomach
23	chr21:45637800-45640000	Enhancers	Fetal Thymus	thymus
24	chr21:45637800-45640200	Enhancers	Fetal Intestine Large	intestine
25	chr21:45637800-45641400	Enhancers	Primary T cells fromperipheralblood	blood
26	chr21:45637800-45641400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
27	chr21:45638000-45638600	ZNF genes & repeats	Spleen	Spleen
28	chr21:45638000-45639600	Enhancers	Hela-S3	cervix
29	chr21:45638000-45640000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr21:45638000-45640600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr21:45638000-45640600	Enhancers	Rectal Mucosa Donor 29	rectum
32	chr21:45638200-45638600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr21:45638200-45638800	Enhancers	HMEC	breast
34	chr21:45638200-45639000	Enhancers	Primary hematopoietic stem cells	blood
35	chr21:45638200-45639400	Enhancers	K562	blood
36	chr21:45638200-45640600	Enhancers	Primary hematopoietic stem cells short term culture	blood
37	chr21:45638200-45640600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
38	chr21:45638200-45641200	Enhancers	Placenta	Placenta
39	chr21:45638400-45638600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr21:45638400-45638600	Enhancers	GM12878-XiMat	blood
41	chr21:45638400-45638800	Enhancers	Primary T killer memory cells from peripheral blood	blood
42	chr21:45638400-45639200	Enhancers	Esophagus	oesophagus
43	chr21:45638400-45640200	Enhancers	HUES6 Cell Line	embryonic stem cell
44	chr21:45638400-45640200	Enhancers	Placenta Amnion	Placenta Amnion
45	chr21:45638400-45640800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr21:45638600-45638800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr21:45638600-45638800	Enhancers	Right Ventricle	heart
48	chr21:45638600-45638800	Flanking Active TSS	GM12878-XiMat	blood
49	chr21:45638600-45639600	Weak transcription	Spleen	Spleen
50	chr21:45638600-45640000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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