Variant report

Variant	esv3349572
Chromosome Location	chr21:47790524-47793522
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:47744691..47747127-chr21:47791938..47793557,2	K562	blood:
2	chr21:47792720..47794427-chr21:47846612..47849567,2	K562	blood:
3	chr21:47651965..47653664-chr21:47792692..47794202,2	K562	blood:
4	chr21:47788835..47791511-chr21:47799288..47801354,2	K562	blood:

Variant related genes	Relation type
ENSG00000160299	chromatin interactions

Extended variants
information (count: 170 )
Associated
traits (count: 36 )

Variant overlapped rSNPs/rCNVs (count:170 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549580009	chr21:47790559-47790560	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs111957794	chr21:47790579-47790580	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs528876477	chr21:47790618-47790619	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs547741660	chr21:47790619-47790620	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs568099729	chr21:47790650-47790651	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs9981170	chr21:47790668-47790669	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs111338615	chr21:47790672-47790673	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs190200608	chr21:47790673-47790674	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs139260958	chr21:47790678-47790679	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs556368503	chr21:47790688-47790689	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs574521426	chr21:47790701-47790702	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs535455989	chr21:47790716-47790717	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs554086057	chr21:47790717-47790718	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs565299910	chr21:47790722-47790723	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs144151530	chr21:47790732-47790733	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs576975167	chr21:47790752-47790753	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs146030032	chr21:47790753-47790754	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs539305607	chr21:47790757-47790758	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs9980590	chr21:47790771-47790772	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
20	rs182422617	chr21:47790839-47790840	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs576469594	chr21:47790858-47790859	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs373668334	chr21:47790882-47790883	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs142264717	chr21:47790899-47790900	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs561604325	chr21:47790944-47790945	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs144286509	chr21:47790971-47790972	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs114668318	chr21:47790973-47790974	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs528943053	chr21:47791014-47791015	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs9984188	chr21:47791062-47791063	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs572493400	chr21:47791063-47791064	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs75500321	chr21:47791087-47791088	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs200603931	chr21:47791131-47791132	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs34095506	chr21:47791132-47791133	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs28536617	chr21:47791133-47791134	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
34	rs527535216	chr21:47791134-47791135	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs533268652	chr21:47791135-47791136	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs541603286	chr21:47791172-47791173	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs551353495	chr21:47791175-47791176	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs569867576	chr21:47791281-47791282	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs536824385	chr21:47791290-47791291	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs188696735	chr21:47791307-47791308	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs568207054	chr21:47791326-47791327	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs547721544	chr21:47791342-47791343	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs535518591	chr21:47791369-47791370	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs553755397	chr21:47791374-47791375	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs565706908	chr21:47791426-47791427	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs540138813	chr21:47791448-47791449	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs558150734	chr21:47791485-47791486	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs370704237	chr21:47791502-47791503	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs374406575	chr21:47791504-47791505	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs12106460	chr21:47791533-47791534	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats 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:323 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:47746000-47793000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr21:47746400-47792000	Weak transcription	Fetal Heart	heart
3	chr21:47746400-47797200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr21:47763800-47792400	Strong transcription	Cortex derived primary cultured neurospheres	brain
5	chr21:47764000-47798000	Strong transcription	Fetal Stomach	stomach
6	chr21:47764200-47792400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
7	chr21:47764200-47793200	Strong transcription	Dnd41	blood
8	chr21:47764200-47800200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr21:47764400-47797000	Strong transcription	Fetal Intestine Small	intestine
10	chr21:47765400-47798400	Strong transcription	Stomach Smooth Muscle	stomach
11	chr21:47768400-47795600	Weak transcription	Right Atrium	heart
12	chr21:47774200-47801400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr21:47775600-47857600	Weak transcription	Stomach Mucosa	stomach
14	chr21:47780600-47791800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr21:47780600-47793800	Strong transcription	Fetal Brain Female	brain
16	chr21:47780800-47790800	Strong transcription	Lung	lung
17	chr21:47781000-47792400	Strong transcription	Adipose Nuclei	Adipose
18	chr21:47781000-47792800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr21:47781000-47793000	Strong transcription	Brain Germinal Matrix	brain
20	chr21:47781800-47791800	Weak transcription	Fetal Brain Male	brain
21	chr21:47782000-47791600	Strong transcription	Gastric	stomach
22	chr21:47782400-47791600	Weak transcription	Fetal Kidney	kidney
23	chr21:47783400-47797800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr21:47783800-47797000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr21:47784000-47791600	Weak transcription	HSMM	muscle
26	chr21:47786200-47802800	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr21:47786400-47791600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr21:47786800-47791800	Weak transcription	Rectal Smooth Muscle	rectum
29	chr21:47787000-47791600	Weak transcription	Fetal Lung	lung
30	chr21:47787200-47791600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr21:47787200-47813200	Weak transcription	NH-A	brain
32	chr21:47787400-47817000	Weak transcription	Small Intestine	intestine
33	chr21:47787600-47790600	Genic enhancers	Fetal Thymus	thymus
34	chr21:47787800-47791400	Weak transcription	K562	blood
35	chr21:47787800-47791600	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr21:47787800-47791600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr21:47787800-47791600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr21:47787800-47791600	Weak transcription	Brain Hippocampus Middle	brain
39	chr21:47787800-47791600	Weak transcription	Fetal Intestine Large	intestine
40	chr21:47787800-47791600	Weak transcription	A549	lung
41	chr21:47787800-47813600	Weak transcription	Colon Smooth Muscle	Colon
42	chr21:47788000-47791200	Weak transcription	Ovary	ovary
43	chr21:47788000-47791400	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr21:47788000-47791600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr21:47788000-47791600	Weak transcription	Brain Substantia Nigra	brain
46	chr21:47788000-47791600	Weak transcription	HMEC	breast
47	chr21:47788000-47794200	Weak transcription	HSMMtube	muscle
48	chr21:47788000-47813000	Weak transcription	NHDF-Ad	bronchial
49	chr21:47788000-47813600	Weak transcription	HUVEC	blood vessel
50	chr21:47788200-47790600	Enhancers	Primary hematopoietic stem cells	blood

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