Variant report

Variant	rs4841280
Chromosome Location	chr8:9956552-9956553
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:9951257..9953099-chr8:9953951..9956586,3	MCF-7	breast:
2	chr8:9954771..9956774-chr8:9960148..9962685,2	K562	blood:

Variant related genes	Relation type
ENSG00000175806	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10098474	0.84[CEU][hapmap];0.91[CHB][hapmap]
rs10104911	0.84[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap];0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1160369	0.83[CHB][hapmap]
rs11785434	0.82[CHB][hapmap]
rs11990610	0.96[CHB][hapmap];0.80[JPT][hapmap];1.00[YRI][hapmap];0.90[ASN][1000 genomes]
rs11990614	0.96[CHB][hapmap];0.80[JPT][hapmap];0.89[ASN][1000 genomes]
rs11998591	0.91[CHB][hapmap];0.89[YRI][hapmap]
rs12114195	0.82[ASN][1000 genomes]
rs12115063	0.80[ASN][1000 genomes]
rs12549943	0.84[CHB][hapmap]
rs12550244	0.84[CEU][hapmap];0.91[CHB][hapmap];0.82[ASN][1000 genomes]
rs12680389	0.82[ASN][1000 genomes]
rs13256357	0.83[CHB][hapmap]
rs1484638	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1564808	0.82[CHB][hapmap]
rs17149332	0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[YRI][hapmap];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17151108	0.95[CHB][hapmap];0.82[ASN][1000 genomes]
rs17151140	0.96[CHB][hapmap];0.80[JPT][hapmap];1.00[YRI][hapmap]
rs17151145	0.95[CHB][hapmap];0.80[ASN][1000 genomes]
rs17151147	0.95[CHB][hapmap];0.80[ASN][1000 genomes]
rs17151188	0.96[CHB][hapmap];0.94[YRI][hapmap];0.80[ASN][1000 genomes]
rs17151193	0.95[CHB][hapmap];0.89[YRI][hapmap]
rs1994223	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1994224	0.84[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2046398	0.84[CEU][hapmap];1.00[CHB][hapmap];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2898242	0.84[CHB][hapmap]
rs4294187	0.84[CEU][hapmap];0.91[CHB][hapmap];0.84[JPT][hapmap];0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs4840461	0.89[CEU][hapmap]
rs4840463	0.95[CHB][hapmap]
rs4840464	0.87[CHB][hapmap];0.80[JPT][hapmap]
rs4841279	0.88[CHB][hapmap];0.84[ASN][1000 genomes]
rs62488697	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs62488698	0.82[ASN][1000 genomes]
rs62488714	0.81[ASN][1000 genomes]
rs6601417	0.91[CHB][hapmap];1.00[YRI][hapmap]
rs685218	0.84[CHB][hapmap]
rs6985791	0.86[CHB][hapmap]
rs6988046	0.94[CEU][hapmap];0.86[CHB][hapmap];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7008407	0.87[CHB][hapmap]
rs7843906	1.00[CHB][hapmap];1.00[YRI][hapmap]
rs814421	0.84[CEU][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs814422	0.89[CEU][hapmap];0.82[CHB][hapmap];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs814424	0.95[CEU][hapmap];0.86[CHB][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs814427	0.81[AFR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs860068	0.90[CEU][hapmap];0.87[CHB][hapmap];0.80[JPT][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9329214	1.00[CEU][hapmap];0.91[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9329215	0.84[CHB][hapmap]
rs936749	1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs963593	1.00[CHB][hapmap];1.00[YRI][hapmap]
rs9644681	0.82[CHB][hapmap]

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	nsv916493	chr8:9806580-10029482	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv610263	chr8:9941021-10090149	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv1034343	chr8:9948342-10014155	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv831230	chr8:9953343-10139350	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:9952000-9959400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:9952600-9956800	Active TSS	Fetal Brain Female	brain
3	chr8:9955000-9956600	Weak transcription	Brain Cingulate Gyrus	brain
4	chr8:9955000-9956800	Weak transcription	Brain Substantia Nigra	brain
5	chr8:9955000-9957400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr8:9955200-9957000	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr8:9955400-9956600	Weak transcription	Brain Angular Gyrus	brain
8	chr8:9956000-9957200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr8:9956200-9956600	Enhancers	Primary neutrophils fromperipheralblood	blood
10	chr8:9956200-9956800	Enhancers	Primary T helper cells PMA-I stimulated	--
11	chr8:9956200-9956800	Enhancers	Adipose Nuclei	Adipose
12	chr8:9956400-9956600	Enhancers	Brain Hippocampus Middle	brain
13	chr8:9956400-9957200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr8:9956400-9957600	Active TSS	Brain Germinal Matrix	brain
15	chr8:9956400-9958000	Enhancers	Brain Anterior Caudate	brain
16	chr8:9956400-9958200	Enhancers	Fetal Brain Male	brain

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