Variant report

Variant	rs16847018
Chromosome Location	chr1:174419672-174419673
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:174418631..174420346-chr1:174546629..174548508,2	K562	blood:
2	chr1:174419001..174421193-chr1:174434649..174437565,2	K562	blood:
3	chr1:174412862..174415441-chr1:174418910..174422017,3	K562	blood:
4	chr1:174411537..174416184-chr1:174417800..174420410,5	K562	blood:

Extended variants
information (count: 43 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10489261	1.00[CHB][hapmap];0.95[CHD][hapmap];0.90[GIH][hapmap];0.92[JPT][hapmap];1.00[MKK][hapmap];0.93[TSI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16846815	0.88[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.93[MKK][hapmap]
rs16847025	1.00[CHB][hapmap];0.92[JPT][hapmap];0.87[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16847121	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16847206	1.00[CHB][hapmap];0.92[JPT][hapmap];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16847237	0.85[CHD][hapmap];1.00[GIH][hapmap]
rs2179108	0.94[EUR][1000 genomes]
rs2179109	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2901819	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41266052	0.81[AFR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs41397546	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56864802	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs57132183	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57243929	0.90[EUR][1000 genomes]
rs57425860	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs57648142	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs57898822	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs58063264	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58525721	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58657641	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs59190079	0.90[EUR][1000 genomes]
rs59262554	0.81[AFR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59949376	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs60240702	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs60865584	0.90[EUR][1000 genomes]
rs60885521	0.90[EUR][1000 genomes]
rs6703536	0.90[EUR][1000 genomes]
rs7547843	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];0.81[AFR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7549724	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv872552	chr1:174061844-174469748	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	esv1799250	chr1:174119038-174484277	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
3	esv1800060	chr1:174132703-174501836	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv465672	chr1:174133251-174469905	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
5	nsv548194	chr1:174133251-174469905	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
6	nsv470746	chr1:174150850-174469905	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
7	nsv1010069	chr1:174215293-174539512	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	nsv1014637	chr1:174265631-174826765	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
9	nsv535208	chr1:174265631-174826765	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
10	nsv1014753	chr1:174271770-174694838	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
11	nsv872555	chr1:174343705-174565720	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
12	nsv1003113	chr1:174367687-174499155	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
13	nsv535209	chr1:174367687-174499155	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
14	esv2755184	chr1:174388343-174970343	Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs16847018	dJ383J4.3	cis	multi-tissue	Pritchard
rs16847018	RABGAP1L	Cis_1M	lymphoblastoid	RTeQTL
rs16847018	SNORD79	cis	parietal	SCAN
rs16847018	SNORD78	cis	parietal	SCAN
rs16847018	CRYM	trans	lymphoblastoid	RTeQTL
rs16847018	CENPL	cis	lymphoblastoid	seeQTL
rs16847018	SELP	cis	cerebellum	SCAN
rs16847018	NME7	cis	cerebellum	SCAN

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:174381200-174438800	Weak transcription	Primary B cells from cord blood	blood
2	chr1:174415400-174420600	Weak transcription	Psoas Muscle	Psoas
3	chr1:174415400-174444800	Weak transcription	Aorta	Aorta
4	chr1:174416200-174429600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr1:174417200-174420400	Active TSS	Brain Anterior Caudate	brain
6	chr1:174417600-174431600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr1:174417800-174425800	Weak transcription	Right Atrium	heart
8	chr1:174417800-174440800	Weak transcription	GM12878-XiMat	blood
9	chr1:174418000-174439000	Weak transcription	Left Ventricle	heart
10	chr1:174418000-174440000	Weak transcription	Primary B cells from peripheral blood	blood
11	chr1:174418400-174420400	Weak transcription	Primary T cells from cord blood	blood
12	chr1:174419000-174419800	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr1:174419000-174419800	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr1:174419000-174419800	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr1:174419400-174419800	Enhancers	HUES48 Cell Line	embryonic stem cell

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