Variant report

Variant	rs4924549
Chromosome Location	chr15:41799711-41799712
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:41757943..41758639-chr15:41799341..41800104,2	K562	blood:
2	chr15:41757763..41758290-chr15:41799192..41799798,2	MCF-7	breast:

Extended variants
information (count: 41 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10518717	1.00[CHB][hapmap]
rs11070328	1.00[CHB][hapmap]
rs11635906	1.00[CHB][hapmap]
rs11854081	1.00[CHB][hapmap]
rs11854632	1.00[CHB][hapmap]
rs11858812	1.00[CHB][hapmap]
rs13313520	1.00[CHB][hapmap]
rs1757468	1.00[CHB][hapmap]
rs17730589	1.00[CHB][hapmap]
rs17730888	1.00[CHB][hapmap]
rs1899	1.00[CHB][hapmap]
rs2730056	1.00[CHB][hapmap]
rs28463309	1.00[CHB][hapmap]
rs28479336	1.00[ASN][1000 genomes]
rs28503916	1.00[ASN][1000 genomes]
rs28508151	1.00[ASN][1000 genomes]
rs28557159	1.00[CHB][hapmap]
rs28631111	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs28662502	1.00[ASN][1000 genomes]
rs316606	1.00[CHB][hapmap]
rs316607	1.00[CHB][hapmap]
rs316611	1.00[CHB][hapmap]
rs3204853	1.00[CHB][hapmap]
rs34040639	1.00[CHB][hapmap]
rs7164211	1.00[CHB][hapmap]
rs7164684	1.00[CHB][hapmap]
rs7165914	1.00[CHB][hapmap]
rs7168307	1.00[CHB][hapmap]
rs7168431	1.00[CHB][hapmap]
rs7169543	1.00[CHB][hapmap]
rs7181982	1.00[CHB][hapmap]
rs72739663	1.00[ASN][1000 genomes]
rs8023530	1.00[CHB][hapmap]
rs8036026	1.00[CHB][hapmap]
rs8037574	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv524476	chr15:41689232-41820200	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv904110	chr15:41776692-41813279	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv904111	chr15:41777898-41805115	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv471241	chr15:41783814-41820200	Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	nsv569233	chr15:41784809-41805237	Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	esv33378	chr15:41786505-41805760	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs4924549	NDUFAF1	Cis_1M	lymphoblastoid	RTeQTL
rs4924549	LOC729082	Cis_1M	lymphoblastoid	RTeQTL
rs4924549	NDUFAF1	cis	multi-tissue	Pritchard
rs4924549	KRTAP4-7	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:41789400-41802600	Weak transcription	K562	blood
2	chr15:41795200-41800000	Weak transcription	Liver	Liver
3	chr15:41795400-41800000	Weak transcription	Pancreas	Pancrea
4	chr15:41795400-41803600	Weak transcription	Lung	lung
5	chr15:41795400-41804200	Weak transcription	Right Atrium	heart
6	chr15:41795600-41801200	Strong transcription	Fetal Intestine Small	intestine
7	chr15:41796400-41800000	Weak transcription	HMEC	breast
8	chr15:41796600-41800200	Weak transcription	Esophagus	oesophagus
9	chr15:41798200-41803000	Weak transcription	Spleen	Spleen
10	chr15:41798800-41801600	Enhancers	Stomach Mucosa	stomach
11	chr15:41799000-41801600	Enhancers	Duodenum Mucosa	Duodenum
12	chr15:41799200-41800200	Enhancers	Hela-S3	cervix
13	chr15:41799400-41800400	Enhancers	Gastric	stomach
14	chr15:41799400-41800400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
15	chr15:41799400-41801400	Enhancers	Colonic Mucosa	Colon
16	chr15:41799600-41800400	Enhancers	Rectal Mucosa Donor 29	rectum

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