Variant report

Variant	esv3503789
Chromosome Location	chr21:46390938-46391107
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GABPA	chr21:46391049-46391290	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr21:46390901-46391261	K562	blood:	n/a	n/a
3	POLR2A	chr21:46390782-46390990	K562	blood:	n/a	n/a
4	POLR2A	chr21:46389646-46391520	K562	blood:	n/a	n/a
5	POLR2A	chr21:46390443-46391260	K562	blood:	n/a	n/a
6	POLR2A	chr21:46390215-46391172	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr21:46390807-46391161	HepG2	liver:	n/a	n/a

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:46389652..46391762-chr21:46403635..46406291,3	K562	blood:
2	chr21:46389981..46391498-chr21:46393886..46395996,2	MCF-7	breast:
3	chr21:46387514..46391451-chr21:46403174..46406984,4	K562	blood:
4	chr21:46387463..46395588-chr21:46492597..46498092,12	K562	blood:
5	chr21:46359964..46363434-chr21:46389610..46392494,4	K562	blood:
6	chr21:46368238..46371642-chr21:46387685..46392289,4	MCF-7	breast:
7	chr21:46388304..46391941-chr21:46405140..46408230,3	MCF-7	breast:
8	chr21:46383415..46387138-chr21:46387996..46392405,6	MCF-7	breast:
9	chr21:46382465..46395146-chr21:46491921..46496809,22	K562	blood:
10	chr21:46389436..46392310-chr21:46403984..46406454,4	MCF-7	breast:
11	chr21:46360355..46363434-chr21:46390613..46392494,3	K562	blood:

No data

Variant related genes	Relation type
FAM207A	TF binding region
ENSG00000197381	chromatin interactions
ENSG00000235374	chromatin interactions
ENSG00000268856	chromatin interactions

Extended variants
information (count: 18 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs36192003	chr21:46390940-46390941	Enhancers Strong transcription Genic enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs28537507	chr21:46390957-46390958	Enhancers Strong transcription Genic enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs184320508	chr21:46390968-46390969	Enhancers Strong transcription Genic enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs143161376	chr21:46390974-46390975	Enhancers Strong transcription Genic enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs199796688	chr21:46390981-46390982	Enhancers Strong transcription Genic enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs60209536	chr21:46390985-46390986	Enhancers Strong transcription Genic enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs537594327	chr21:46390987-46390988	Enhancers Strong transcription Genic enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs374205183	chr21:46390995-46390996	Enhancers Strong transcription Genic enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs386819241	chr21:46391019-46391020	Enhancers Strong transcription Genic enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs13045979	chr21:46391020-46391021	Enhancers Strong transcription Genic enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs13050319	chr21:46391042-46391043	Enhancers Strong transcription Genic enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs13045988	chr21:46391046-46391047	Enhancers Strong transcription Genic enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs13045995	chr21:46391056-46391057	Enhancers Strong transcription Genic enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs553700900	chr21:46391066-46391067	Enhancers Strong transcription Genic enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs71199647	chr21:46391078-46391079	Enhancers Strong transcription Genic enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs8131781	chr21:46391079-46391080	Enhancers Strong transcription Genic enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs188939379	chr21:46391087-46391088	Enhancers Strong transcription Genic enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs546436682	chr21:46391089-46391090	Enhancers Strong transcription Genic enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:102)

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
Autism	22495311	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
Breast cancer	21858162	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
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	17142309	CNVD
Pancreatic ductal adenocarcinoma	19077451	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
Schizophrenia	23813976	CNVD
Congenital heart defects	20877625	CNVD
Aortic dissecting aneurysms	22263138	CNVD
Ependymoma	20639864	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:135 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46364200-46391400	Strong transcription	Dnd41	blood
2	chr21:46380000-46396600	Weak transcription	Brain Substantia Nigra	brain
3	chr21:46380200-46402600	Weak transcription	Aorta	Aorta
4	chr21:46381200-46391200	Enhancers	Fetal Heart	heart
5	chr21:46381200-46396400	Weak transcription	Psoas Muscle	Psoas
6	chr21:46382800-46404800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr21:46384200-46391200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr21:46384200-46391400	Strong transcription	H1 Cell Line	embryonic stem cell
9	chr21:46384200-46399600	Strong transcription	Fetal Intestine Small	intestine
10	chr21:46385000-46393200	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr21:46385000-46401400	Strong transcription	Thymus	Thymus
12	chr21:46385200-46393000	Genic enhancers	Fetal Muscle Leg	muscle
13	chr21:46385400-46393000	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr21:46385400-46393800	Genic enhancers	Fetal Muscle Trunk	muscle
15	chr21:46385800-46393000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr21:46386200-46391200	Genic enhancers	Fetal Stomach	stomach
17	chr21:46386200-46393200	Genic enhancers	Spleen	Spleen
18	chr21:46386400-46392400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr21:46386400-46400600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr21:46386600-46391200	Genic enhancers	Lung	lung
21	chr21:46386800-46400600	Weak transcription	Small Intestine	intestine
22	chr21:46387000-46391200	Strong transcription	Sigmoid Colon	Sigmoid Colon
23	chr21:46387200-46391000	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr21:46387400-46391000	Strong transcription	HUES48 Cell Line	embryonic stem cell
25	chr21:46387400-46391000	Genic enhancers	Placenta	Placenta
26	chr21:46387400-46391000	Enhancers	Placenta Amnion	Placenta Amnion
27	chr21:46387600-46391000	Strong transcription	Brain Germinal Matrix	brain
28	chr21:46387600-46391200	Weak transcription	Fetal Brain Male	brain
29	chr21:46387600-46396000	Strong transcription	Pancreas	Pancrea
30	chr21:46387800-46391000	Enhancers	Primary hematopoietic stem cells	blood
31	chr21:46387800-46391000	Genic enhancers	Skeletal Muscle Male	skeletal muscle
32	chr21:46387800-46392600	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr21:46387800-46397800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr21:46387800-46399000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
35	chr21:46388400-46393600	Weak transcription	Fetal Brain Female	brain
36	chr21:46388600-46391000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr21:46388600-46391400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr21:46388600-46394600	Weak transcription	Liver	Liver
39	chr21:46388600-46396800	Weak transcription	Brain Hippocampus Middle	brain
40	chr21:46388600-46397600	Weak transcription	NHEK	skin
41	chr21:46388600-46398200	Strong transcription	Gastric	stomach
42	chr21:46388600-46398400	Weak transcription	Brain Angular Gyrus	brain
43	chr21:46388600-46399800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr21:46388800-46391400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr21:46389200-46391200	Enhancers	ES-I3 Cell Line	embryonic stem cell
46	chr21:46389200-46391200	Strong transcription	Esophagus	oesophagus
47	chr21:46389400-46393000	Genic enhancers	HUES6 Cell Line	embryonic stem cell
48	chr21:46389400-46393000	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr21:46389600-46391000	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr21:46389600-46391200	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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