Variant report

Variant	rs9976385
Chromosome Location	chr21:40107476-40107477
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:40106344..40108151-chr21:40152083..40153978,2	MCF-7	breast:
2	chr21:40104645..40107795-chr21:40176588..40180305,3	K562	blood:
3	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	0.92[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11910585	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2836654	0.96[CEU][hapmap];0.83[CHB][hapmap];0.91[JPT][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2836655	0.88[CEU][hapmap];0.87[CHB][hapmap];0.91[JPT][hapmap];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs717804	0.89[CEU][hapmap];0.90[EUR][1000 genomes]
rs9976432	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][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:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40102600-40124800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr21:40106400-40107800	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr21:40106400-40108400	Enhancers	Rectal Mucosa Donor 31	rectum
4	chr21:40106400-40111800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr21:40106600-40107600	Weak transcription	Liver	Liver
6	chr21:40106600-40107800	Weak transcription	Right Atrium	heart
7	chr21:40106600-40108000	Weak transcription	Aorta	Aorta
8	chr21:40106600-40108600	Enhancers	Fetal Intestine Large	intestine
9	chr21:40106600-40112800	Weak transcription	Colonic Mucosa	Colon
10	chr21:40106800-40108000	Weak transcription	Fetal Intestine Small	intestine
11	chr21:40106800-40108400	Enhancers	Dnd41	blood
12	chr21:40107000-40107600	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr21:40107000-40107800	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr21:40107000-40108000	Weak transcription	Fetal Lung	lung
15	chr21:40107000-40108200	Enhancers	Primary hematopoietic stem cells	blood
16	chr21:40107000-40108400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr21:40107000-40108400	Enhancers	Small Intestine	intestine
18	chr21:40107000-40113000	Weak transcription	Primary T cells from cord blood	blood
19	chr21:40107200-40107600	Weak transcription	HepG2	liver
20	chr21:40107200-40108000	Enhancers	Monocytes-CD14+_RO01746	blood
21	chr21:40107200-40108400	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr21:40107200-40108400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr21:40107400-40108400	Enhancers	Duodenum Mucosa	Duodenum
24	chr21:40107400-40113000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links