Variant report

Variant	esv4867
Chromosome Location	chr21:47832918-47833176
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	chr21:47824425..47826063-chr21:47831096..47833613,2	K562	blood:
2	chr21:47832440..47835140-chr21:47835369..47837767,2	MCF-7	breast:

Extended variants
information (count: 48 )
Associated
traits (count: 36 )

Variant overlapped rSNPs/rCNVs (count:48 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs527778709	chr21:47832921-47832922	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs369310351	chr21:47832926-47832927	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs13052786	chr21:47832927-47832928	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs199991534	chr21:47832928-47832929	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs376046698	chr21:47832932-47832933	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs112314119	chr21:47832933-47832934	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs570865200	chr21:47832934-47832935	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs13046462	chr21:47832936-47832937	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs13046463	chr21:47832939-47832940	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs547655993	chr21:47832940-47832941	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs112334245	chr21:47832955-47832956	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
12	rs568750167	chr21:47832957-47832958	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs536081091	chr21:47832969-47832970	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs112033692	chr21:47832987-47832988	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs4300932	chr21:47832989-47832990	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs112290401	chr21:47832993-47832994	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs111931506	chr21:47832996-47832997	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs554064968	chr21:47832999-47833000	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs113205962	chr21:47833000-47833001	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs61544820	chr21:47833015-47833016	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs4516527	chr21:47833017-47833018	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs10222118	chr21:47833018-47833019	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs572153700	chr21:47833029-47833030	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs4577374	chr21:47833047-47833048	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs10222131	chr21:47833048-47833049	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs4819246	chr21:47833049-47833050	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs4516528	chr21:47833053-47833054	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs4577375	chr21:47833056-47833057	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs10222132	chr21:47833059-47833060	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs61501620	chr21:47833060-47833061	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs8127361	chr21:47833075-47833076	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs542991183	chr21:47833089-47833090	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs561680166	chr21:47833098-47833099	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs4819247	chr21:47833107-47833108	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs112754599	chr21:47833109-47833110	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs4818841	chr21:47833113-47833114	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs4819248	chr21:47833116-47833117	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs112299117	chr21:47833120-47833121	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs113863982	chr21:47833124-47833125	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
40	rs573842300	chr21:47833135-47833136	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs541265114	chr21:47833137-47833138	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs4819249	chr21:47833138-47833139	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
43	rs4819250	chr21:47833156-47833157	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs28379531	chr21:47833157-47833158	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs56679410	chr21:47833166-47833167	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs13050327	chr21:47833167-47833168	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs78282514	chr21:47833172-47833173	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs56690985	chr21:47833175-47833176	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	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:134 , 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	chr21:47828000-47833000	Strong transcription	NHEK	skin
27	chr21:47828000-47863200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr21:47828400-47835600	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr21:47828600-47872400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr21:47828800-47843200	Strong transcription	Fetal Muscle Leg	muscle
31	chr21:47829200-47843000	Strong transcription	Left Ventricle	heart
32	chr21:47829200-47843200	Strong transcription	Thymus	Thymus
33	chr21:47829400-47833000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr21:47829400-47843200	Strong transcription	Fetal Muscle Trunk	muscle
35	chr21:47829400-47862600	Strong transcription	Skeletal Muscle Female	skeletal muscle
36	chr21:47829400-47867800	Strong transcription	Cortex derived primary cultured neurospheres	brain
37	chr21:47829600-47833000	Strong transcription	Rectal Mucosa Donor 29	rectum
38	chr21:47829600-47837000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr21:47829600-47837200	Strong transcription	Lung	lung
40	chr21:47829600-47842000	Strong transcription	Fetal Thymus	thymus
41	chr21:47829600-47842800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr21:47829600-47843000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr21:47829600-47843200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr21:47829600-47862800	Strong transcription	Skeletal Muscle Male	skeletal muscle
45	chr21:47829600-47864000	Strong transcription	Fetal Intestine Small	intestine
46	chr21:47829800-47833000	Strong transcription	Fetal Intestine Large	intestine
47	chr21:47829800-47833800	Strong transcription	Primary T helper cells fromperipheralblood	blood
48	chr21:47829800-47836800	Strong transcription	Sigmoid Colon	Sigmoid Colon
49	chr21:47829800-47838600	Strong transcription	Spleen	Spleen
50	chr21:47829800-47842800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood

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