Variant report

Variant	esv3422777
Chromosome Location	chr21:47833081-47833447
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:47832440..47835140-chr21:47835369..47837767,2	MCF-7	breast:
2	chr21:47824425..47826063-chr21:47831096..47833613,2	K562	blood:

Extended variants
information (count: 42 )
Associated
traits (count: 36 )

Variant overlapped rSNPs/rCNVs (count:42 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542991183	chr21:47833089-47833090	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs561680166	chr21:47833098-47833099	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs4819247	chr21:47833107-47833108	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs112754599	chr21:47833109-47833110	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs4818841	chr21:47833113-47833114	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs4819248	chr21:47833116-47833117	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs112299117	chr21:47833120-47833121	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs113863982	chr21:47833124-47833125	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
9	rs573842300	chr21:47833135-47833136	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs541265114	chr21:47833137-47833138	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs4819249	chr21:47833138-47833139	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
12	rs4819250	chr21:47833156-47833157	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs28379531	chr21:47833157-47833158	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs56679410	chr21:47833166-47833167	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs13050327	chr21:47833167-47833168	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs78282514	chr21:47833172-47833173	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs56690985	chr21:47833175-47833176	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs13050330	chr21:47833178-47833179	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs536914401	chr21:47833192-47833193	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs533106038	chr21:47833195-47833196	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs191086023	chr21:47833196-47833197	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs181798474	chr21:47833197-47833198	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs66773818	chr21:47833214-47833215	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs4577376	chr21:47833215-47833216	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs59956338	chr21:47833216-47833217	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs112932242	chr21:47833228-47833229	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs112061666	chr21:47833232-47833233	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs111313920	chr21:47833235-47833236	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs111682239	chr21:47833243-47833244	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs550185564	chr21:47833254-47833255	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs568811573	chr21:47833256-47833257	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs13046034	chr21:47833257-47833258	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs5844267	chr21:47833275-47833276	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs112299671	chr21:47833276-47833277	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs535772152	chr21:47833286-47833287	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs548023301	chr21:47833287-47833288	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs566151758	chr21:47833291-47833292	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs539995000	chr21:47833295-47833296	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs557457744	chr21:47833301-47833302	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs575714253	chr21:47833345-47833346	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs149757932	chr21:47833383-47833384	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs80113805	chr21:47833420-47833421	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance

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:135 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:47775600-47857600	Weak transcription	Stomach Mucosa	stomach
2	chr21:47789400-47842600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr21:47802200-47842600	Strong transcription	Dnd41	blood
4	chr21:47803200-47872400	Weak transcription	Fetal Kidney	kidney
5	chr21:47803600-47842600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr21:47804800-47843000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
7	chr21:47804800-47843000	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr21:47804800-47843400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr21:47809800-47842600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr21:47814400-47861000	Weak transcription	Fetal Brain Male	brain
11	chr21:47814600-47834000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr21:47817000-47834000	Strong transcription	Primary monocytes fromperipheralblood	blood
13	chr21:47818400-47850200	Weak transcription	Small Intestine	intestine
14	chr21:47818600-47842600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr21:47820400-47851200	Weak transcription	NH-A	brain
16	chr21:47822800-47836000	Weak transcription	A549	lung
17	chr21:47822800-47843000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr21:47823200-47835000	Weak transcription	Colon Smooth Muscle	Colon
19	chr21:47823200-47850200	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr21:47823400-47840000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr21:47823800-47835800	Weak transcription	HSMM	muscle
22	chr21:47824600-47835800	Weak transcription	HSMMtube	muscle
23	chr21:47827400-47866600	Strong transcription	Fetal Stomach	stomach
24	chr21:47827600-47842600	Strong transcription	Primary T cells from cord blood	blood
25	chr21:47827800-47842800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr21:47828000-47863200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr21:47828400-47835600	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr21:47828600-47872400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr21:47828800-47843200	Strong transcription	Fetal Muscle Leg	muscle
30	chr21:47829200-47843000	Strong transcription	Left Ventricle	heart
31	chr21:47829200-47843200	Strong transcription	Thymus	Thymus
32	chr21:47829400-47843200	Strong transcription	Fetal Muscle Trunk	muscle
33	chr21:47829400-47862600	Strong transcription	Skeletal Muscle Female	skeletal muscle
34	chr21:47829400-47867800	Strong transcription	Cortex derived primary cultured neurospheres	brain
35	chr21:47829600-47837000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr21:47829600-47837200	Strong transcription	Lung	lung
37	chr21:47829600-47842000	Strong transcription	Fetal Thymus	thymus
38	chr21:47829600-47842800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr21:47829600-47843000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr21:47829600-47843200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr21:47829600-47862800	Strong transcription	Skeletal Muscle Male	skeletal muscle
42	chr21:47829600-47864000	Strong transcription	Fetal Intestine Small	intestine
43	chr21:47829800-47833800	Strong transcription	Primary T helper cells fromperipheralblood	blood
44	chr21:47829800-47836800	Strong transcription	Sigmoid Colon	Sigmoid Colon
45	chr21:47829800-47838600	Strong transcription	Spleen	Spleen
46	chr21:47829800-47842800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr21:47829800-47842800	Strong transcription	Right Ventricle	heart
48	chr21:47829800-47843000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr21:47830000-47833400	Strong transcription	Brain Anterior Caudate	brain
50	chr21:47830000-47833600	Strong transcription	Primary neutrophils fromperipheralblood	blood

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