Variant report

Variant	rs4903576
Chromosome Location	chr14:77844869-77844870
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:77786039..77790135-chr14:77842733..77846742,6	MCF-7	breast:
2	chr14:77842121..77845840-chr14:77923685..77925710,4	K562	blood:
3	chr14:77785710..77794377-chr14:77836948..77846491,26	MCF-7	breast:
4	chr14:77841945..77846770-chr14:77921022..77925977,11	MCF-7	breast:
5	chr14:77785581..77788460-chr14:77843501..77845400,3	K562	blood:
6	chr14:77766406..77773210-chr14:77841892..77846481,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000100591	Chromatin interaction
ENSG00000009830	Chromatin interaction
ENSG00000100577	Chromatin interaction
ENSG00000151445	Chromatin interaction

Extended variants
information (count: 67 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs10133896	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1061629	1.00[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];0.96[MEX][hapmap];0.81[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.81[EUR][1000 genomes]
rs1061638	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs11159258	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11159259	0.85[EUR][1000 genomes]
rs11159261	0.92[CEU][hapmap];1.00[CHB][hapmap];0.91[MEX][hapmap];0.93[TSI][hapmap]
rs11159262	0.92[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap]
rs11159263	0.92[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap]
rs11159264	0.88[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap]
rs11622359	0.89[CEU][hapmap];0.85[CHB][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.94[MKK][hapmap];0.93[TSI][hapmap]
rs11623826	0.92[CEU][hapmap];1.00[CHB][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.98[TSI][hapmap];0.84[EUR][1000 genomes]
rs11624990	0.85[CEU][hapmap];0.85[CHB][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.94[MKK][hapmap];0.85[TSI][hapmap];0.88[YRI][hapmap]
rs11625365	1.00[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];0.96[MEX][hapmap];0.81[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.84[EUR][1000 genomes]
rs11627016	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11844594	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12101153	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12432247	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12433766	0.92[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap]
rs12435136	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[GIH][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12436593	0.92[CEU][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.89[TSI][hapmap]
rs12587525	0.81[CEU][hapmap]
rs12885869	0.83[EUR][1000 genomes]
rs12889722	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs147316	0.85[EUR][1000 genomes]
rs176766	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs176767	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs176768	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs176772	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs176773	0.86[EUR][1000 genomes]
rs176778	0.82[EUR][1000 genomes]
rs176781	0.92[CEU][hapmap];1.00[CHB][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.98[TSI][hapmap];0.85[EUR][1000 genomes]
rs17824034	0.92[CEU][hapmap];1.00[CHB][hapmap];0.91[MEX][hapmap];0.93[TSI][hapmap];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17824316	0.92[CEU][hapmap];0.85[CHB][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.96[MKK][hapmap];0.91[TSI][hapmap]
rs2091916	1.00[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];0.96[MEX][hapmap];0.81[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.83[EUR][1000 genomes]
rs2193595	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2242619	0.92[CEU][hapmap];1.00[CHB][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.98[TSI][hapmap];0.85[EUR][1000 genomes]
rs2364156	0.82[EUR][1000 genomes]
rs35881785	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3742737	0.89[CHD][hapmap]
rs4223	0.92[CEU][hapmap];1.00[CHB][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.98[TSI][hapmap];0.85[EUR][1000 genomes]
rs4369582	0.83[EUR][1000 genomes]
rs4575469	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4899652	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs4899654	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4899655	0.92[CEU][hapmap];1.00[CHB][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.98[TSI][hapmap];0.85[EUR][1000 genomes]
rs4903577	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4903579	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4903580	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4903584	0.92[CEU][hapmap];0.85[CHB][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.96[MKK][hapmap];0.93[TSI][hapmap];0.80[EUR][1000 genomes]
rs4903586	0.89[CEU][hapmap];0.85[CHB][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.93[TSI][hapmap]
rs6574372	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[EUR][1000 genomes]
rs66466131	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7142380	0.92[CEU][hapmap];0.85[CHB][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.96[MKK][hapmap];0.93[TSI][hapmap];0.80[EUR][1000 genomes]
rs7146595	0.92[CEU][hapmap];0.85[CHB][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.96[MKK][hapmap];0.93[TSI][hapmap];0.80[EUR][1000 genomes]
rs7146784	0.92[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes]
rs7150718	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7250	0.92[CEU][hapmap];0.85[CHB][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.96[MKK][hapmap];0.93[TSI][hapmap]
rs8005759	1.00[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8006688	0.81[EUR][1000 genomes]
rs8016070	0.81[EUR][1000 genomes]
rs8016576	0.83[EUR][1000 genomes]
rs8018513	0.80[EUR][1000 genomes]
rs8018711	0.81[EUR][1000 genomes]
rs8018808	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs963283	1.00[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];0.98[TSI][hapmap];0.88[YRI][hapmap];0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv431017	chr14:76938089-77854647	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	107 gene(s)	inside rSNPs	diseases
2	nsv902107	chr14:77790416-77871777	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs4903576	C14orf148	cis	parietal	SCAN
rs4903576	C14orf174	cis	parietal	SCAN
rs4903576	C14orf148	cis	cerebellum	SCAN
rs4903576	AHSA1	cis	parietal	SCAN

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:77843800-77845600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
2	chr14:77844200-77846200	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr14:77844200-77848600	Weak transcription	Psoas Muscle	Psoas
4	chr14:77844200-77849400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr14:77844200-77849400	Weak transcription	Fetal Intestine Small	intestine
6	chr14:77844400-77845800	Enhancers	Primary neutrophils fromperipheralblood	blood
7	chr14:77844400-77847000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr14:77844400-77847800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr14:77844400-77847800	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr14:77844400-77849200	Weak transcription	Fetal Intestine Large	intestine
11	chr14:77844400-77855600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr14:77844400-77862200	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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