Variant report

Variant	rs4294187
Chromosome Location	chr8:9961451-9961452
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	chr8:9959952..9962225-chr8:9964575..9967404,2	MCF-7	breast:
2	chr8:9954771..9956774-chr8:9960148..9962685,2	K562	blood:

Extended variants
information (count: 68 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10098474	0.82[CHB][hapmap]
rs10104911	0.84[CEU][hapmap];0.91[CHB][hapmap];0.89[JPT][hapmap];0.87[ASN][1000 genomes]
rs10107485	0.86[CHB][hapmap]
rs11249969	0.83[CHB][hapmap]
rs1160369	0.91[CHB][hapmap]
rs11774411	0.87[CHB][hapmap]
rs11783851	0.86[CHB][hapmap]
rs11785434	0.91[CHB][hapmap];0.83[CHD][hapmap];0.95[MEX][hapmap];0.85[ASN][1000 genomes]
rs11990610	0.86[CHB][hapmap];0.84[JPT][hapmap];0.89[ASN][1000 genomes]
rs11990614	0.86[CHB][hapmap];0.84[JPT][hapmap];0.87[ASN][1000 genomes]
rs11998591	0.82[CHB][hapmap]
rs12114195	0.81[ASN][1000 genomes]
rs12115063	0.80[ASN][1000 genomes]
rs12542030	0.82[CHB][hapmap]
rs12545469	0.82[CHB][hapmap]
rs12545775	0.86[CHB][hapmap]
rs12545788	0.86[CHB][hapmap]
rs12549943	0.91[CHB][hapmap]
rs12550244	0.92[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];0.85[MEX][hapmap];0.96[TSI][hapmap];0.87[YRI][hapmap];0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12674871	0.82[CHB][hapmap]
rs12680389	0.86[CHB][hapmap]
rs13249013	0.83[CHB][hapmap]
rs13256357	0.91[CHB][hapmap]
rs1484638	0.83[ASN][1000 genomes]
rs1484645	0.83[CHB][hapmap]
rs1564808	0.91[CHB][hapmap];0.90[MEX][hapmap];0.82[ASN][1000 genomes]
rs17149332	0.89[CEU][hapmap];0.91[CHB][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17151108	0.87[CHB][hapmap];0.81[ASN][1000 genomes]
rs17151140	0.87[CHB][hapmap];0.84[JPT][hapmap];0.80[ASN][1000 genomes]
rs17151142	0.86[CHB][hapmap]
rs17151145	0.87[CHB][hapmap];0.82[ASN][1000 genomes]
rs17151147	0.87[CHB][hapmap];0.82[ASN][1000 genomes]
rs17151188	0.86[CHB][hapmap]
rs17151190	0.83[CHB][hapmap]
rs17151193	0.86[CHB][hapmap]
rs17155393	0.86[CHB][hapmap]
rs1984863	0.82[CHB][hapmap]
rs1994223	0.89[CEU][hapmap];0.91[CHB][hapmap];0.90[MEX][hapmap];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1994224	0.84[CEU][hapmap];0.91[CHB][hapmap];0.84[JPT][hapmap];0.86[ASN][1000 genomes]
rs2046398	0.84[CEU][hapmap];0.91[CHB][hapmap];0.83[ASN][1000 genomes]
rs2898242	0.91[CHB][hapmap]
rs3735823	0.83[CHB][hapmap]
rs4840461	0.84[CEU][hapmap];0.82[CHB][hapmap]
rs4840463	0.86[CHB][hapmap];0.90[MEX][hapmap]
rs4840464	0.81[CHB][hapmap]
rs4841279	0.95[CHB][hapmap]
rs4841280	0.84[CEU][hapmap];0.91[CHB][hapmap];0.84[JPT][hapmap];0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs4841283	0.85[CHB][hapmap]
rs62488697	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62488698	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6601417	0.82[CHB][hapmap]
rs6981546	0.86[MEX][hapmap]
rs6983566	0.83[CHB][hapmap];0.86[MEX][hapmap]
rs7008407	0.95[CHB][hapmap]
rs7843906	0.91[CHB][hapmap];0.80[ASN][1000 genomes]
rs814421	0.81[MEX][hapmap]
rs814422	0.84[CEU][hapmap]
rs9329214	0.87[CEU][hapmap];0.81[CHB][hapmap];0.82[ASN][1000 genomes]
rs9329215	0.91[CHB][hapmap]
rs936749	0.91[CHB][hapmap];0.83[JPT][hapmap];0.82[ASN][1000 genomes]
rs963593	0.91[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 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
5	nsv1027280	chr8:9958259-10058984	Enhancers Active TSS Genic enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv1021921	chr8:9958259-10212555	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	esv1850829	chr8:9958321-10045451	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4294187	MFHAS1	cis	cerebellum	SCAN
rs4294187	PRSS55	cis	parietal	SCAN

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:9956600-9962000	Weak transcription	Primary neutrophils fromperipheralblood	blood
2	chr8:9957000-9965400	Weak transcription	Brain Angular Gyrus	brain
3	chr8:9958000-9963200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr8:9958000-9963200	Weak transcription	Gastric	stomach
5	chr8:9958600-9965200	Weak transcription	Fetal Heart	heart
6	chr8:9959800-9974000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr8:9960600-9962400	Weak transcription	Fetal Brain Female	brain
8	chr8:9961200-9967400	Weak transcription	Primary T cells from cord blood	blood
9	chr8:9961400-9970400	Weak transcription	Pancreas	Pancrea

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