Variant report

Variant	esv1332628
Chromosome Location	chr21:45584319-45584403
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POU2F2	chr21:45583990-45584546	GM12878	blood:	n/a	n/a
2	SIX5	chr21:45584079-45584407	K562	blood:	n/a	n/a
3	TCF3	chr21:45584141-45584401	GM12878	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr21:45582972..45588290-chr21:45588610..45593083,12	MCF-7	breast:
2	chr21:45576170..45578304-chr21:45582737..45584575,2	K562	blood:
3	chr21:45553046..45554600-chr21:45582651..45585521,2	K562	blood:
4	chr21:45573655..45575237-chr21:45583026..45585364,2	MCF-7	breast:
5	chr21:45579145..45582773-chr21:45583367..45588421,9	K562	blood:
6	chr21:45575692..45578304-chr21:45583075..45585227,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000225331	TF binding region
ENSG00000225331	chromatin interactions
ENSG00000160221	chromatin interactions

Extended variants
information (count: 15 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs71197884	chr21:45584320-45584321	ZNF genes & repeats Genic enhancers Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs111778525	chr21:45584321-45584322	ZNF genes & repeats Genic enhancers Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs62226734	chr21:45584323-45584324	ZNF genes & repeats Genic enhancers Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs563687037	chr21:45584338-45584339	ZNF genes & repeats Genic enhancers Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs113892103	chr21:45584345-45584346	ZNF genes & repeats Genic enhancers Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs7280337	chr21:45584348-45584349	ZNF genes & repeats Genic enhancers Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs111979982	chr21:45584349-45584350	ZNF genes & repeats Genic enhancers Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs113863333	chr21:45584354-45584355	ZNF genes & repeats Genic enhancers Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs376143286	chr21:45584355-45584356	ZNF genes & repeats Genic enhancers Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs548925866	chr21:45584372-45584373	ZNF genes & repeats Genic enhancers Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs567339019	chr21:45584373-45584374	ZNF genes & repeats Genic enhancers Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs7283007	chr21:45584376-45584377	ZNF genes & repeats Genic enhancers Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs181126238	chr21:45584378-45584379	ZNF genes & repeats Genic enhancers Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs565853895	chr21:45584379-45584380	ZNF genes & repeats Genic enhancers Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs7275286	chr21:45584383-45584384	ZNF genes & repeats Genic enhancers Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:99)

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
Hodgkin''s lymphoma	18641027	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
Ewing''s sarcoma	18628472	CNVD
Leukemia	18628472	CNVD
small cell lung cancer	17426248	CNVD
Ependymoma	20639864	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45561000-45584400	Weak transcription	Aorta	Aorta
2	chr21:45575400-45586000	Weak transcription	Fetal Lung	lung
3	chr21:45575400-45592000	Weak transcription	Fetal Brain Female	brain
4	chr21:45575600-45584800	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr21:45579800-45590400	Weak transcription	Colon Smooth Muscle	Colon
6	chr21:45579800-45590400	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr21:45580000-45591200	Weak transcription	Fetal Heart	heart
8	chr21:45580800-45584800	Weak transcription	Gastric	stomach
9	chr21:45580800-45585800	Weak transcription	HUVEC	blood vessel
10	chr21:45580800-45586600	Weak transcription	Right Ventricle	heart
11	chr21:45580800-45589200	Weak transcription	Colonic Mucosa	Colon
12	chr21:45581000-45584600	Weak transcription	Brain Germinal Matrix	brain
13	chr21:45581000-45586200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr21:45581000-45586400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr21:45581000-45590400	Weak transcription	Pancreas	Pancrea
16	chr21:45581000-45591600	Weak transcription	Right Atrium	heart
17	chr21:45581200-45584600	Weak transcription	Primary T cells from cord blood	blood
18	chr21:45581200-45585000	Weak transcription	Brain Angular Gyrus	brain
19	chr21:45581200-45585000	Weak transcription	Duodenum Mucosa	Duodenum
20	chr21:45581200-45585800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr21:45581200-45585800	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr21:45581200-45585800	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr21:45581200-45586000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr21:45581200-45586600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr21:45581200-45589000	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr21:45581400-45584400	Weak transcription	Primary T cells fromperipheralblood	blood
27	chr21:45581400-45584600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr21:45581400-45584600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr21:45581400-45584600	Weak transcription	Brain Substantia Nigra	brain
30	chr21:45581400-45584600	Weak transcription	Fetal Thymus	thymus
31	chr21:45581400-45585000	Weak transcription	Monocytes-CD14+_RO01746	blood
32	chr21:45581400-45585200	Weak transcription	Primary monocytes fromperipheralblood	blood
33	chr21:45581400-45585800	Weak transcription	Primary T helper cells fromperipheralblood	blood
34	chr21:45581400-45586000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
35	chr21:45581400-45586000	Weak transcription	Primary T helper cells PMA-I stimulated	--
36	chr21:45581400-45586400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr21:45581400-45586800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
38	chr21:45581600-45586200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr21:45582000-45584600	Enhancers	Skeletal Muscle Male	skeletal muscle
40	chr21:45582000-45584800	Weak transcription	Brain Anterior Caudate	brain
41	chr21:45582000-45586400	Weak transcription	Adipose Nuclei	Adipose
42	chr21:45582000-45587400	Enhancers	Skeletal Muscle Female	skeletal muscle
43	chr21:45582200-45585200	ZNF genes & repeats	Fetal Stomach	stomach
44	chr21:45582400-45584600	Strong transcription	Stomach Smooth Muscle	stomach
45	chr21:45582400-45586800	Enhancers	Breast Myoepithelial Primary Cells	Breast
46	chr21:45582600-45584600	Strong transcription	Spleen	Spleen
47	chr21:45582600-45584800	Weak transcription	Primary B cells from cord blood	blood
48	chr21:45582800-45584400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr21:45582800-45584400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr21:45582800-45584600	Weak transcription	Primary hematopoietic stem cells	blood

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