Variant report

Variant	esv3415114
Chromosome Location	chr21:47310350-47310944
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr21:47310511-47310852	SH-SY5Y	brain:	n/a	n/a
2	IRF1	chr21:47310919-47310965	K562	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:47307528..47310993-chr21:47318183..47321905,4	K562	blood:
2	chr21:47304723..47306559-chr21:47309917..47311783,2	MCF-7	breast:
3	chr21:46294020..46295642-chr21:47310587..47313582,2	K562	blood:
4	chr21:47308842..47311490-chr21:47321844..47323697,2	MCF-7	breast:
5	chr21:47308979..47311967-chr21:47312189..47314453,2	MCF-7	breast:

No data

Variant related genes	Relation type
PCBP3	TF binding region
ENSG00000183570	chromatin interactions

Extended variants
information (count: 72 )
Associated
traits (count: 36 )

Variant overlapped rSNPs/rCNVs (count:72 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs565590456	chr21:47310351-47310352	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs189177849	chr21:47310380-47310381	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs557937162	chr21:47310400-47310401	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs141735452	chr21:47310425-47310426	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs537174401	chr21:47310429-47310430	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs180705698	chr21:47310437-47310438	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs57797263	chr21:47310446-47310447	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs551992345	chr21:47310453-47310454	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs58450760	chr21:47310461-47310462	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs551451672	chr21:47310462-47310463	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs541702920	chr21:47310463-47310464	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs59293116	chr21:47310465-47310466	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs560113573	chr21:47310478-47310479	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs578086673	chr21:47310480-47310481	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs60439800	chr21:47310487-47310488	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs374527745	chr21:47310502-47310503	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs62211936	chr21:47310504-47310505	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs59557317	chr21:47310508-47310509	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs61601528	chr21:47310522-47310523	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs545571113	chr21:47310537-47310538	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs28570240	chr21:47310538-47310539	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs61368658	chr21:47310547-47310548	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs57838028	chr21:47310551-47310552	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs28515553	chr21:47310565-47310566	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs184870337	chr21:47310580-47310581	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs28690638	chr21:47310581-47310582	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs57366439	chr21:47310589-47310590	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs57669592	chr21:47310591-47310592	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs60787587	chr21:47310592-47310593	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs59142659	chr21:47310600-47310601	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs28545439	chr21:47310606-47310607	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs548710011	chr21:47310620-47310621	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs61437148	chr21:47310631-47310632	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs28698252	chr21:47310635-47310636	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs60089537	chr21:47310641-47310642	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs28582215	chr21:47310642-47310643	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs28430756	chr21:47310648-47310649	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs375370223	chr21:47310650-47310651	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs58573627	chr21:47310663-47310664	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs528079720	chr21:47310668-47310669	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs58384659	chr21:47310678-47310679	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs61622791	chr21:47310685-47310686	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs147425147	chr21:47310694-47310695	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs571531697	chr21:47310714-47310715	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs57691792	chr21:47310719-47310720	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs550729145	chr21:47310728-47310729	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs58161108	chr21:47310729-47310730	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs537541137	chr21:47310748-47310749	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs13050569	chr21:47310768-47310769	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs8130949	chr21:47310769-47310770	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	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:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:47303800-47313200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
2	chr21:47304200-47313400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
3	chr21:47304200-47313400	Enhancers	Primary T helper cells PMA-I stimulated	--
4	chr21:47304400-47310400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
5	chr21:47304400-47311200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
6	chr21:47304400-47311600	Enhancers	Primary T helper cells fromperipheralblood	blood
7	chr21:47304400-47311800	Enhancers	Primary T cells from cord blood	blood
8	chr21:47305000-47314200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
9	chr21:47306200-47311600	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr21:47306400-47311600	Weak transcription	Primary monocytes fromperipheralblood	blood
11	chr21:47306400-47311800	Enhancers	Fetal Muscle Leg	muscle
12	chr21:47306800-47311600	Weak transcription	Primary hematopoietic stem cells	blood
13	chr21:47307000-47311200	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr21:47307200-47311600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr21:47307200-47313400	Enhancers	Primary T helper naive cells from peripheral blood	blood
16	chr21:47307400-47313400	Enhancers	Primary T killer memory cells from peripheral blood	blood
17	chr21:47307600-47311400	Weak transcription	Primary B cells from peripheral blood	blood
18	chr21:47307600-47311600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr21:47307600-47313600	Weak transcription	NHDF-Ad	bronchial
20	chr21:47307600-47313800	Weak transcription	Brain Cingulate Gyrus	brain
21	chr21:47307800-47310400	Enhancers	Colonic Mucosa	Colon
22	chr21:47307800-47310400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
23	chr21:47308000-47311600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr21:47308000-47312800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr21:47308000-47343000	Weak transcription	Right Atrium	heart
26	chr21:47308200-47314000	Weak transcription	Left Ventricle	heart
27	chr21:47309000-47310400	Bivalent Enhancer	Fetal Stomach	stomach
28	chr21:47309000-47310400	Enhancers	HSMMtube	muscle
29	chr21:47309200-47310400	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr21:47309200-47310400	Enhancers	Placenta	Placenta
31	chr21:47309400-47310400	Enhancers	HSMM	muscle
32	chr21:47309400-47311800	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr21:47309600-47310400	Enhancers	Adipose Nuclei	Adipose
34	chr21:47309600-47311400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr21:47309600-47311600	Weak transcription	Thymus	Thymus
36	chr21:47309800-47310400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr21:47309800-47311600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr21:47310000-47310600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr21:47310000-47311000	Weak transcription	Spleen	Spleen
40	chr21:47310000-47311400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr21:47310000-47313600	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr21:47310200-47311400	Weak transcription	Fetal Thymus	thymus
43	chr21:47310200-47311800	Weak transcription	Duodenum Mucosa	Duodenum
44	chr21:47310200-47313200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr21:47310200-47313600	Weak transcription	Brain Substantia Nigra	brain
46	chr21:47310200-47313800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr21:47310200-47313800	Weak transcription	Brain Hippocampus Middle	brain
48	chr21:47310400-47310800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
49	chr21:47310400-47311400	Weak transcription	Placenta	Placenta
50	chr21:47310400-47311800	Weak transcription	Colonic Mucosa	Colon

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