Variant report

Variant	esv3358214
Chromosome Location	chr21:47789724-47794322
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:47792720..47794427-chr21:47846612..47849567,2	K562	blood:
2	chr21:47787244..47789996-chr21:47820361..47822942,3	K562	blood:
3	chr21:47713822..47715879-chr21:47788612..47790511,2	K562	blood:
4	chr21:47744691..47747127-chr21:47791938..47793557,2	K562	blood:
5	chr21:47713494..47715322-chr21:47788049..47790112,2	K562	blood:
6	chr21:47651965..47653664-chr21:47792692..47794202,2	K562	blood:
7	chr21:47788835..47791511-chr21:47799288..47801354,2	K562	blood:

Variant related genes	Relation type
ENSG00000160299	chromatin interactions

Extended variants
information (count: 240 )
Associated
traits (count: 36 )

Variant overlapped rSNPs/rCNVs (count:240 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540744623	chr21:47789726-47789727	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs559077516	chr21:47789732-47789733	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs577194621	chr21:47789793-47789794	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs544591042	chr21:47789798-47789799	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs3788258	chr21:47789854-47789855	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs527870506	chr21:47789869-47789870	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs530426165	chr21:47789877-47789878	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs547701332	chr21:47789887-47789888	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs114597089	chr21:47789926-47789927	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs112592647	chr21:47789937-47789938	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs527864120	chr21:47789946-47789947	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs551883813	chr21:47790004-47790005	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs570525391	chr21:47790026-47790027	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs3788259	chr21:47790035-47790036	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs549762681	chr21:47790069-47790070	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs567915092	chr21:47790082-47790083	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs376776364	chr21:47790114-47790115	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs369448244	chr21:47790139-47790140	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs140988848	chr21:47790140-47790141	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs535767656	chr21:47790142-47790143	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs554072658	chr21:47790144-47790145	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs369123962	chr21:47790148-47790149	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs539620682	chr21:47790166-47790167	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs3788260	chr21:47790183-47790184	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs577258764	chr21:47790227-47790228	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs149263759	chr21:47790233-47790234	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs3788261	chr21:47790235-47790236	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs550072105	chr21:47790257-47790258	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs144556070	chr21:47790346-47790347	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs202136656	chr21:47790378-47790379	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs542152911	chr21:47790400-47790401	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs560392343	chr21:47790416-47790417	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs117261412	chr21:47790419-47790420	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
34	rs2839231	chr21:47790436-47790437	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs79120556	chr21:47790442-47790443	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs531436813	chr21:47790457-47790458	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs34076193	chr21:47790466-47790467	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs549580009	chr21:47790559-47790560	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs111957794	chr21:47790579-47790580	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs528876477	chr21:47790618-47790619	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs547741660	chr21:47790619-47790620	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs568099729	chr21:47790650-47790651	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs9981170	chr21:47790668-47790669	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs111338615	chr21:47790672-47790673	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs190200608	chr21:47790673-47790674	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs139260958	chr21:47790678-47790679	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs556368503	chr21:47790688-47790689	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs574521426	chr21:47790701-47790702	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs535455989	chr21:47790716-47790717	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs554086057	chr21:47790717-47790718	Weak transcription Strong transcription Genic enhancers 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:394 , 50 per page) page: 1 2 3 4 5 6 7 8

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	chr21:47764600-47790400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr21:47765400-47798400	Strong transcription	Stomach Smooth Muscle	stomach
12	chr21:47768400-47795600	Weak transcription	Right Atrium	heart
13	chr21:47774200-47801400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr21:47775600-47857600	Weak transcription	Stomach Mucosa	stomach
15	chr21:47780600-47791800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr21:47780600-47793800	Strong transcription	Fetal Brain Female	brain
17	chr21:47780800-47790000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr21:47780800-47790200	Strong transcription	HepG2	liver
19	chr21:47780800-47790800	Strong transcription	Lung	lung
20	chr21:47781000-47790000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr21:47781000-47790200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr21:47781000-47792400	Strong transcription	Adipose Nuclei	Adipose
23	chr21:47781000-47792800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr21:47781000-47793000	Strong transcription	Brain Germinal Matrix	brain
25	chr21:47781200-47790200	Strong transcription	Left Ventricle	heart
26	chr21:47781800-47791800	Weak transcription	Fetal Brain Male	brain
27	chr21:47782000-47791600	Strong transcription	Gastric	stomach
28	chr21:47782400-47791600	Weak transcription	Fetal Kidney	kidney
29	chr21:47782600-47790000	Strong transcription	NHLF	lung
30	chr21:47783400-47797800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr21:47783600-47790000	Strong transcription	Pancreas	Pancrea
32	chr21:47783800-47797000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr21:47784000-47791600	Weak transcription	HSMM	muscle
34	chr21:47785200-47790000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr21:47786200-47790000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr21:47786200-47802800	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr21:47786400-47791600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr21:47786800-47791800	Weak transcription	Rectal Smooth Muscle	rectum
39	chr21:47787000-47791600	Weak transcription	Fetal Lung	lung
40	chr21:47787200-47791600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr21:47787200-47813200	Weak transcription	NH-A	brain
42	chr21:47787400-47817000	Weak transcription	Small Intestine	intestine
43	chr21:47787600-47790000	Enhancers	Primary T cells fromperipheralblood	blood
44	chr21:47787600-47790600	Genic enhancers	Fetal Thymus	thymus
45	chr21:47787800-47790000	Enhancers	Primary T cells from cord blood	blood
46	chr21:47787800-47791400	Weak transcription	K562	blood
47	chr21:47787800-47791600	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr21:47787800-47791600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr21:47787800-47791600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr21:47787800-47791600	Weak transcription	Brain Hippocampus Middle	brain

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