Variant report

Variant	rs717804
Chromosome Location	chr21:40106694-40106695
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:40106190..40107075-chr21:40510093..40510727,2	MCF-7	breast:
2	chr21:40106344..40108151-chr21:40152083..40153978,2	MCF-7	breast:
3	chr21:40104619..40107467-chr21:40182654..40185637,2	K562	blood:
4	chr21:40104645..40107795-chr21:40176588..40180305,3	K562	blood:
5	chr21:40106234..40108594-chr21:40335676..40338028,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000157557	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10048862	0.82[EUR][1000 genomes]
rs11910585	0.90[EUR][1000 genomes]
rs2836654	0.85[CEU][hapmap];0.86[EUR][1000 genomes]
rs2836655	0.86[TSI][hapmap]
rs9976385	0.89[CEU][hapmap];0.90[EUR][1000 genomes]
rs9976432	0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1060405	chr21:40095523-40159813	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1057356	chr21:40103881-40147363	Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv913739	chr21:40103951-40152372	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv913740	chr21:40103951-40157124	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40102600-40124800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr21:40105800-40106800	Flanking Active TSS	Dnd41	blood
3	chr21:40105800-40107000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr21:40106000-40106800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
5	chr21:40106000-40106800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr21:40106000-40106800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
7	chr21:40106000-40106800	Active TSS	HUES64 Cell Line	embryonic stem cell
8	chr21:40106000-40106800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
9	chr21:40106000-40106800	Flanking Active TSS	Primary B cells from cord blood	blood
10	chr21:40106000-40106800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr21:40106000-40107000	Active TSS	ES-I3 Cell Line	embryonic stem cell
12	chr21:40106000-40107000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
13	chr21:40106000-40107200	Active TSS	iPS-20b Cell Line	embryonic stem cell
14	chr21:40106000-40107200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
15	chr21:40106000-40107200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr21:40106000-40107200	Enhancers	HepG2	liver
17	chr21:40106000-40107200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
18	chr21:40106200-40107000	Flanking Active TSS	Primary hematopoietic stem cells	blood
19	chr21:40106200-40107200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
20	chr21:40106400-40106800	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr21:40106400-40106800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr21:40106400-40106800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
23	chr21:40106400-40106800	Flanking Active TSS	Primary T cells from cord blood	blood
24	chr21:40106400-40106800	Active TSS	Duodenum Mucosa	Duodenum
25	chr21:40106400-40106800	Active TSS	Placenta	Placenta
26	chr21:40106400-40107000	Enhancers	Fetal Kidney	kidney
27	chr21:40106400-40107000	Enhancers	Fetal Lung	lung
28	chr21:40106400-40107200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr21:40106400-40107800	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr21:40106400-40108400	Enhancers	Rectal Mucosa Donor 31	rectum
31	chr21:40106400-40111800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr21:40106600-40106800	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr21:40106600-40106800	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
34	chr21:40106600-40106800	Active TSS	iPS-18 Cell Line	embryonic stem cell
35	chr21:40106600-40106800	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
36	chr21:40106600-40106800	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
37	chr21:40106600-40106800	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
38	chr21:40106600-40106800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
39	chr21:40106600-40106800	Enhancers	Duodenum Smooth Muscle	Duodenum
40	chr21:40106600-40106800	Enhancers	Fetal Intestine Small	intestine
41	chr21:40106600-40106800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
42	chr21:40106600-40106800	Enhancers	HSMM	muscle
43	chr21:40106600-40106800	Active TSS	NH-A	brain
44	chr21:40106600-40106800	Enhancers	NHLF	lung
45	chr21:40106600-40107000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
46	chr21:40106600-40107000	Enhancers	HUVEC	blood vessel
47	chr21:40106600-40107200	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr21:40106600-40107200	Enhancers	Adipose Nuclei	Adipose
49	chr21:40106600-40107400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
50	chr21:40106600-40107600	Weak transcription	Liver	Liver

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