Variant report

Variant	esv3515612
Chromosome Location	chr21:47778374-47780672
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:47774912..47776813-chr21:47779995..47781577,2	K562	blood:
2	chr21:47741199..47743425-chr21:47776810..47778962,2	K562	blood:
3	chr21:47705352..47707211-chr21:47776681..47778418,2	K562	blood:
4	chr21:47763241..47765458-chr21:47776628..47779413,2	K562	blood:
5	chr21:47769238..47772145-chr21:47780327..47783138,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000160294	chromatin interactions
ENSG00000182362	chromatin interactions

Extended variants
information (count: 137 )
Associated
traits (count: 36 )

Variant overlapped rSNPs/rCNVs (count:137 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs61307895	chr21:47778393-47778394	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs567273681	chr21:47778407-47778408	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs528063851	chr21:47778416-47778417	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs571602044	chr21:47778420-47778421	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs147971313	chr21:47778422-47778423	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs538482605	chr21:47778427-47778428	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs190170789	chr21:47778443-47778444	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs569852822	chr21:47778449-47778450	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs537155407	chr21:47778457-47778458	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs555415651	chr21:47778480-47778481	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs549581890	chr21:47778515-47778516	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs573716389	chr21:47778518-47778519	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs561401877	chr21:47778543-47778544	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs35030158	chr21:47778544-47778545	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs138797354	chr21:47778548-47778549	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs397768386	chr21:47778557-47778558	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs553420576	chr21:47778568-47778569	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs141456292	chr21:47778590-47778591	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs545319607	chr21:47778593-47778594	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs569784411	chr21:47778626-47778627	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs181789420	chr21:47778660-47778661	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs112021186	chr21:47778676-47778677	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs189238666	chr21:47778695-47778696	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs11089062	chr21:47778712-47778713	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs13048265	chr21:47778715-47778716	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs13051352	chr21:47778716-47778717	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs528125724	chr21:47778719-47778720	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs531736416	chr21:47778725-47778726	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs13051354	chr21:47778726-47778727	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs565976078	chr21:47778747-47778748	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs534094315	chr21:47778759-47778760	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs571495441	chr21:47778771-47778772	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs541141440	chr21:47778818-47778819	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs532423863	chr21:47778841-47778842	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs181784452	chr21:47778871-47778872	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs547585539	chr21:47778899-47778900	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs138299711	chr21:47778925-47778926	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs183142117	chr21:47778927-47778928	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs536008008	chr21:47778945-47778946	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs149561917	chr21:47778959-47778960	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
41	rs567402482	chr21:47778969-47778970	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs534756427	chr21:47779012-47779013	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs185128804	chr21:47779022-47779023	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs376609248	chr21:47779040-47779041	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs144308202	chr21:47779066-47779067	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs189550834	chr21:47779114-47779115	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs146108636	chr21:47779119-47779120	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs142778707	chr21:47779131-47779132	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs181281200	chr21:47779147-47779148	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs557017632	chr21:47779148-47779149	Weak transcription Strong transcription	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:211 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:47746000-47793000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr21:47746400-47789200	Strong transcription	Fetal Muscle Leg	muscle
3	chr21:47746400-47792000	Weak transcription	Fetal Heart	heart
4	chr21:47746400-47797200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr21:47747600-47787600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
6	chr21:47754000-47778400	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr21:47754000-47781400	Strong transcription	Thymus	Thymus
8	chr21:47754000-47787400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr21:47754000-47787600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr21:47754200-47781000	Strong transcription	Fetal Thymus	thymus
11	chr21:47754200-47787800	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr21:47763800-47778600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr21:47763800-47792400	Strong transcription	Cortex derived primary cultured neurospheres	brain
14	chr21:47764000-47798000	Strong transcription	Fetal Stomach	stomach
15	chr21:47764200-47780000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr21:47764200-47780400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr21:47764200-47788000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr21:47764200-47792400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
19	chr21:47764200-47793200	Strong transcription	Dnd41	blood
20	chr21:47764200-47800200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr21:47764400-47778600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr21:47764400-47778600	Strong transcription	Brain Inferior Temporal Lobe	brain
23	chr21:47764400-47780000	Strong transcription	Lung	lung
24	chr21:47764400-47797000	Strong transcription	Fetal Intestine Small	intestine
25	chr21:47764600-47778600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr21:47764600-47778600	Strong transcription	Primary T helper cells fromperipheralblood	blood
27	chr21:47764600-47778600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr21:47764600-47788600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr21:47764600-47790400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr21:47764800-47778400	Strong transcription	NHEK	skin
31	chr21:47764800-47784600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr21:47765000-47778600	Strong transcription	Primary neutrophils fromperipheralblood	blood
33	chr21:47765200-47778400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
34	chr21:47765400-47778400	Strong transcription	NHLF	lung
35	chr21:47765400-47778600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr21:47765400-47778600	Strong transcription	Brain Germinal Matrix	brain
37	chr21:47765400-47778600	Strong transcription	HepG2	liver
38	chr21:47765400-47780000	Strong transcription	HUES48 Cell Line	embryonic stem cell
39	chr21:47765400-47780200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr21:47765400-47787600	Strong transcription	Primary T cells from cord blood	blood
41	chr21:47765400-47789600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
42	chr21:47765400-47798400	Strong transcription	Stomach Smooth Muscle	stomach
43	chr21:47765600-47778400	Strong transcription	iPS-15b Cell Line	embryonic stem cell
44	chr21:47765600-47778400	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr21:47765600-47778400	Strong transcription	Brain Substantia Nigra	brain
46	chr21:47765600-47778400	Strong transcription	Duodenum Smooth Muscle	Duodenum
47	chr21:47765600-47778400	Strong transcription	Placenta	Placenta
48	chr21:47765600-47778400	Strong transcription	Gastric	stomach
49	chr21:47765600-47778400	Strong transcription	Pancreas	Pancrea
50	chr21:47765600-47778400	Strong transcription	Rectal Mucosa Donor 29	rectum

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