Variant report

Variant	esv3430213
Chromosome Location	chr21:40787789-40788109
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	JUND	chr21:40788016-40788350	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr21:40781064..40783289-chr21:40787779..40789319,2	K562	blood:
2	chr21:40784167..40788125-chr21:40789270..40793629,5	K562	blood:
3	chr21:40786710..40789568-chr21:40816730..40818254,2	K562	blood:
4	chr21:40758859..40762254-chr21:40785710..40788224,3	MCF-7	breast:

Variant related genes	Relation type
LCA5L	TF binding region
ENSG00000182093	chromatin interactions
ENSG00000157578	chromatin interactions
ENSG00000185437	chromatin interactions

Extended variants
information (count: 13 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2837016	chr21:40787816-40787817	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs546401433	chr21:40787827-40787828	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs566197931	chr21:40787855-40787856	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs528894037	chr21:40787861-40787862	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs138237794	chr21:40787904-40787905	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs149561773	chr21:40787935-40787936	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs554723794	chr21:40788001-40788002	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs552001860	chr21:40788013-40788014	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs144255288	chr21:40788024-40788025	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs35889697	chr21:40788032-40788033	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs534366051	chr21:40788051-40788052	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs377747565	chr21:40788082-40788083	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs2837017	chr21:40788083-40788084	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:71)

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 myeloid leukemia	20729466	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
Down syndrome	20877625	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Cancer	20164920	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Prostate cancer	21147910	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Prostate cancer	17245344	CNVD
Prostate cancer	20473283	CNVD
Chordoma	18071362	CNVD
Breast cancer	22522925	CNVD
T-cell lymphomas	22341440	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40764600-40800600	Weak transcription	Psoas Muscle	Psoas
2	chr21:40778200-40816600	Weak transcription	Pancreas	Pancrea
3	chr21:40778400-40787800	Weak transcription	Spleen	Spleen
4	chr21:40778400-40788200	Weak transcription	Fetal Brain Male	brain
5	chr21:40778400-40816600	Weak transcription	Left Ventricle	heart
6	chr21:40779200-40788800	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr21:40779200-40801400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr21:40779800-40794000	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr21:40779800-40794200	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr21:40780200-40791000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr21:40780400-40802200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr21:40780600-40787800	Weak transcription	Adipose Nuclei	Adipose
13	chr21:40780600-40787800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr21:40780600-40789800	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr21:40780600-40790000	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr21:40780600-40790600	Weak transcription	Brain Cingulate Gyrus	brain
17	chr21:40780600-40794200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr21:40780600-40801800	Weak transcription	Lung	lung
19	chr21:40780800-40789200	Weak transcription	Fetal Intestine Small	intestine
20	chr21:40780800-40791800	Weak transcription	Brain Substantia Nigra	brain
21	chr21:40780800-40794200	Weak transcription	Brain Germinal Matrix	brain
22	chr21:40781000-40788000	Weak transcription	Primary T cells from cord blood	blood
23	chr21:40781000-40788000	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr21:40781200-40787800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr21:40781200-40798600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr21:40781200-40811000	Weak transcription	Aorta	Aorta
27	chr21:40781200-40813000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr21:40781200-40813200	Weak transcription	HSMMtube	muscle
29	chr21:40781400-40802000	Weak transcription	Stomach Smooth Muscle	stomach
30	chr21:40785000-40800600	Weak transcription	Gastric	stomach
31	chr21:40786200-40787800	Weak transcription	Right Ventricle	heart
32	chr21:40786200-40792000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr21:40786400-40788000	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr21:40786400-40788000	Weak transcription	Fetal Stomach	stomach
35	chr21:40786400-40792400	Weak transcription	Thymus	Thymus
36	chr21:40786600-40787800	Weak transcription	K562	blood
37	chr21:40786600-40798000	Weak transcription	Ovary	ovary
38	chr21:40787800-40788600	Enhancers	K562	blood

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