Variant report

Variant	esv3325892
Chromosome Location	chr21:47815200-47815549
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:47815105..47815661-chr7:120428881..120429381,2	K562	blood:
2	chr21:47812895..47815892-chr21:47877586..47879919,3	MCF-7	breast:
3	chr21:47796194..47797947-chr21:47813489..47815942,2	K562	blood:

Variant related genes	Relation type
ENSG00000160305	chromatin interactions

Extended variants
information (count: 26 )
Associated
traits (count: 36 )

Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs191127840	chr21:47815203-47815204	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs557113614	chr21:47815234-47815235	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs2268523	chr21:47815251-47815252	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs9680484	chr21:47815289-47815290	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs9680385	chr21:47815290-47815291	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs9680346	chr21:47815309-47815310	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs529318935	chr21:47815344-47815345	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs550814079	chr21:47815372-47815373	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs368143782	chr21:47815376-47815377	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs374092438	chr21:47815400-47815401	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs28410746	chr21:47815401-47815402	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs35285784	chr21:47815402-47815403	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs28495272	chr21:47815421-47815422	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs371863365	chr21:47815425-47815426	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs9981080	chr21:47815432-47815433	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs369672609	chr21:47815437-47815438	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs9981798	chr21:47815481-47815482	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs542308029	chr21:47815488-47815489	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs9981145	chr21:47815493-47815494	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs550229191	chr21:47815511-47815512	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs35882918	chr21:47815512-47815513	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs28647795	chr21:47815514-47815515	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs9981813	chr21:47815534-47815535	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs13049105	chr21:47815537-47815538	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs9982154	chr21:47815541-47815542	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs34720411	chr21:47815546-47815547	Weak transcription Strong transcription	Chromatin interactive region	1 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:143 , 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	chr21:47787400-47817000	Weak transcription	Small Intestine	intestine
3	chr21:47789400-47842600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr21:47790000-47822000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr21:47795000-47821200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr21:47801200-47826200	Strong transcription	Fetal Stomach	stomach
7	chr21:47801400-47825000	Strong transcription	Primary T cells from cord blood	blood
8	chr21:47802200-47830600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr21:47802200-47842600	Strong transcription	Dnd41	blood
10	chr21:47803200-47872400	Weak transcription	Fetal Kidney	kidney
11	chr21:47803600-47842600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr21:47804000-47825000	Strong transcription	Sigmoid Colon	Sigmoid Colon
13	chr21:47804000-47826200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr21:47804000-47826200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr21:47804200-47824600	Strong transcription	Duodenum Mucosa	Duodenum
16	chr21:47804200-47825000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr21:47804200-47825600	Strong transcription	Left Ventricle	heart
18	chr21:47804200-47826400	Strong transcription	Fetal Thymus	thymus
19	chr21:47804600-47815200	Strong transcription	Placenta Amnion	Placenta Amnion
20	chr21:47804600-47825400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr21:47804600-47825600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr21:47804600-47826200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr21:47804600-47827000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr21:47804800-47815200	Strong transcription	Lung	lung
25	chr21:47804800-47817600	Strong transcription	Thymus	Thymus
26	chr21:47804800-47823000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr21:47804800-47843000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
28	chr21:47804800-47843000	Strong transcription	Monocytes-CD14+_RO01746	blood
29	chr21:47804800-47843400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr21:47805800-47825400	Strong transcription	Primary neutrophils fromperipheralblood	blood
31	chr21:47806000-47816800	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr21:47806200-47825000	Strong transcription	HUES48 Cell Line	embryonic stem cell
33	chr21:47806400-47824000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr21:47806600-47822200	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr21:47806800-47817000	Weak transcription	Primary B cells from cord blood	blood
36	chr21:47807200-47815200	Strong transcription	Rectal Mucosa Donor 29	rectum
37	chr21:47807800-47815200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr21:47808200-47815600	Strong transcription	HUES6 Cell Line	embryonic stem cell
39	chr21:47808400-47819200	Strong transcription	Spleen	Spleen
40	chr21:47809400-47815200	Strong transcription	HUES64 Cell Line	embryonic stem cell
41	chr21:47809800-47842600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
42	chr21:47810400-47816200	Weak transcription	Hela-S3	cervix
43	chr21:47811400-47817000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr21:47811600-47817200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr21:47811800-47817400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
46	chr21:47812000-47816000	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr21:47812400-47815200	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
48	chr21:47812800-47815200	Enhancers	Liver	Liver
49	chr21:47813000-47815200	Genic enhancers	Cortex derived primary cultured neurospheres	brain
50	chr21:47813200-47815200	Strong transcription	Primary hematopoietic stem cells	blood

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