Variant report

Variant	esv3332747
Chromosome Location	chr21:46727781-46728065
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:27)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:27 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BHLHE40	chr21:46726878-46729243	HepG2	liver:	n/a	n/a
2	CTCF	chr21:46727694-46727832	Kidney_OC	kidney:	n/a	n/a
3	CTCF	chr21:46728020-46728170	AG10803	skin:	n/a	n/a
4	CTCF	chr21:46727777-46727831	Spleen_OC	spleen:	n/a	n/a
5	CTCF	chr21:46727780-46727813	Medullo	brain:	n/a	n/a
6	FOSL2	chr21:46727448-46727966	HepG2	liver:	n/a	n/a
7	HDAC2	chr21:46727981-46729251	HepG2	liver:	n/a	n/a
8	MAFK	chr21:46727632-46728026	HepG2	liver:	n/a	n/a
9	MAFK	chr21:46727513-46727960	IMR90	lung:	n/a	n/a
10	MAFK	chr21:46727624-46728004	HepG2	liver:	n/a	n/a
11	MAX	chr21:46727848-46729389	HepG2	liver:	n/a	chr21:46729375-46729384
12	MAX	chr21:46727942-46729308	NB4	blood:	n/a	n/a
13	MAX	chr21:46727868-46729444	HepG2	liver:	n/a	chr21:46729375-46729384
14	MAZ	chr21:46727916-46729410	IMR90	lung:	n/a	chr21:46729375-46729384
15	MBD4	chr21:46728038-46728975	HepG2	liver:	n/a	n/a
16	MYBL2	chr21:46726840-46728005	HepG2	liver:	n/a	n/a
17	MYC	chr21:46727942-46727947	HepG2	liver:	n/a	n/a
18	MYC	chr21:46727976-46728207	HepG2	liver:	n/a	n/a
19	MYC	chr21:46727870-46727893	HepG2	liver:	n/a	n/a
20	MYC	chr21:46726896-46727852	HepG2	liver:	n/a	chr21:46727065-46727074
21	POLR2A	chr21:46727756-46729321	HepG2	liver:	n/a	n/a
22	POLR2A	chr21:46727931-46729331	HepG2	liver:	n/a	n/a
23	POLR2A	chr21:46725629-46729568	IMR90	lung:	n/a	n/a
24	SIX5	chr21:46727501-46728049	K562	blood:	n/a	n/a
25	USF1	chr21:46727716-46727942	HepG2	liver:	n/a	n/a
26	USF1	chr21:46727629-46727899	GM12878	blood:	n/a	n/a
27	ZBTB33	chr21:46727577-46728055	K562	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:46723493..46725372-chr21:46725861..46728537,3	K562	blood:
2	chr21:46726238..46728769-chr21:46731285..46733297,3	K562	blood:
3	chr21:46727309..46730446-chr21:46829894..46833293,4	K562	blood:
4	chr21:46727532..46729794-chr21:46745790..46748227,2	MCF-7	breast:
5	chr21:46727073..46730583-chr21:46829051..46833062,4	K562	blood:
6	chr21:46727455..46729208-chr21:46846804..46849388,2	MCF-7	breast:

No data

Variant related genes	Relation type
LINC00315	TF binding region
ENSG00000224574	chromatin interactions
ENSG00000184274	chromatin interactions

Extended variants
information (count: 29 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:29 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568473415	chr21:46727783-46727784	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs376561011	chr21:46727819-46727820	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs113532928	chr21:46727824-46727825	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs111857136	chr21:46727840-46727841	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs529444831	chr21:46727847-46727848	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs13048573	chr21:46727882-46727883	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs111715648	chr21:46727884-46727885	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs35370661	chr21:46727886-46727887	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs374548011	chr21:46727888-46727889	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs539774952	chr21:46727898-46727899	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs373751900	chr21:46727921-46727922	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs557307988	chr21:46727950-46727951	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs569282839	chr21:46727960-46727961	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs371808624	chr21:46727979-46727980	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs11306095	chr21:46727991-46727992	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs536662304	chr21:46727992-46727993	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs111798385	chr21:46727998-46727999	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs71334400	chr21:46728008-46728009	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs573701907	chr21:46728009-46728010	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs56008127	chr21:46728010-46728011	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs386819286	chr21:46728011-46728012	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs147066351	chr21:46728012-46728013	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs139190296	chr21:46728015-46728016	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs553238688	chr21:46728037-46728038	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs4819058	chr21:46728056-46728057	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs184831037	chr21:46728058-46728059	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs113513718	chr21:46728059-46728060	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs4819059	chr21:46728062-46728063	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs563593634	chr21:46728063-46728064	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:95)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Cancer	16751803	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Down syndrome	17412756	CNVD
Down syndrome	17576883	CNVD
Acute promyelocytic leukemia	19109227	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	17387387	CNVD
Renal cell carcinoma	19461508	CNVD
Seminomas	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Prostate cancer	19156837	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
lymphocytic leukemia	21291569	CNVD
Melanoma	18172304	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
Chronic lymphocytic leukemia	20421269	CNVD
Wilms tumour	21544195	CNVD
Ewing''s sarcoma	17952124	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute myeloid leukemia	16864856	CNVD
Mental retardation	21031080	CNVD
Polymicrogyria	21031080	CNVD
periventricular nodular heterotopia	21031080	CNVD
Myelodysplastic syndrome	21606161	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Autism	18414403	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	17899364	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	20473283	CNVD
Chordoma	18071362	CNVD
Glioblastoma multiforme	18628472	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-syndromic sensorineural hearing loss	17457615	CNVD
Ewing''s sarcoma	21437220	CNVD
Lung adenocarcinoma	17086460	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Ovarian neoplasms	16753589	CNVD
Non-small cell lung cancer	21829676	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Gastric adenocarcinoma	19115996	CNVD
Acute myeloid leukemia	21358987	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Prostate cancer	23341502	CNVD
Ovarian cancer	21720365	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	21251322	CNVD
Non-syndromic sensorineural hearing loss	18496225	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 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
Breast cancer	17142309	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	17426248	CNVD
Developmental delay	21147756	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	17237825	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46713800-46738800	Weak transcription	Gastric	stomach
2	chr21:46715600-46730000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr21:46715800-46730000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr21:46717600-46728200	Weak transcription	A549	lung
5	chr21:46719400-46728400	Enhancers	Fetal Muscle Trunk	muscle
6	chr21:46720600-46728000	Weak transcription	Stomach Mucosa	stomach
7	chr21:46721000-46728200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr21:46722800-46728600	Weak transcription	Fetal Thymus	thymus
9	chr21:46722800-46730200	Enhancers	Fetal Muscle Leg	muscle
10	chr21:46723000-46728000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr21:46723000-46730800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr21:46723400-46728000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr21:46724000-46728000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr21:46724200-46730200	Enhancers	Pancreas	Pancrea
15	chr21:46724800-46728600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr21:46724800-46728600	Enhancers	NH-A	brain
17	chr21:46725000-46728800	Weak transcription	Primary T helper cells PMA-I stimulated	--
18	chr21:46725000-46729600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr21:46725000-46730200	Enhancers	Fetal Lung	lung
20	chr21:46725400-46728000	Weak transcription	Primary T cells from cord blood	blood
21	chr21:46725600-46729000	Enhancers	Esophagus	oesophagus
22	chr21:46725800-46728800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr21:46725800-46730800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr21:46725800-46730800	Enhancers	Ovary	ovary
25	chr21:46726000-46728000	Weak transcription	Primary hematopoietic stem cells	blood
26	chr21:46726000-46729200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr21:46726200-46728200	Enhancers	Fetal Kidney	kidney
28	chr21:46726200-46728400	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr21:46726200-46728800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr21:46726200-46729400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr21:46726200-46729600	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr21:46726200-46730200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr21:46726200-46730200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
34	chr21:46726200-46730200	Enhancers	Brain Substantia Nigra	brain
35	chr21:46726200-46730200	Bivalent Enhancer	Placenta	Placenta
36	chr21:46726200-46731400	Enhancers	Fetal Intestine Small	intestine
37	chr21:46726400-46727800	Flanking Active TSS	Stomach Smooth Muscle	stomach
38	chr21:46726400-46728000	Enhancers	Adipose Nuclei	Adipose
39	chr21:46726400-46728000	Enhancers	Fetal Intestine Large	intestine
40	chr21:46726400-46728200	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
41	chr21:46726400-46729200	Enhancers	Lung	lung
42	chr21:46726400-46730000	Enhancers	NHLF	lung
43	chr21:46726400-46730200	Enhancers	Liver	Liver
44	chr21:46726400-46730200	Enhancers	Left Ventricle	heart
45	chr21:46726400-46730200	Enhancers	Right Atrium	heart
46	chr21:46726400-46730400	Enhancers	Right Ventricle	heart
47	chr21:46726600-46727800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr21:46726600-46728600	Enhancers	Fetal Heart	heart
49	chr21:46726600-46728800	Flanking Active TSS	HepG2	liver
50	chr21:46726600-46729000	Enhancers	Rectal Mucosa Donor 31	rectum

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