Variant report

Variant	rs11623504
Chromosome Location	chr14:70265144-70265145
allele	A/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr14:70265069-70265431	A549	lung:	n/a	chr14:70265249-70265260 chr14:70265249-70265262 chr14:70265249-70265262
2	CEBPB	chr14:70265109-70265398	K562	blood:	n/a	chr14:70265249-70265260 chr14:70265249-70265262 chr14:70265249-70265262
3	CTCF	chr14:70265040-70265190	HRE	kidney:	n/a	n/a
4	CEBPB	chr14:70265067-70265441	HepG2	liver:	n/a	chr14:70265249-70265260 chr14:70265249-70265262 chr14:70265249-70265262
5	CEBPB	chr14:70265076-70265416	IMR90	lung:	n/a	chr14:70265249-70265260 chr14:70265249-70265262 chr14:70265249-70265262
6	CEBPB	chr14:70265110-70265338	Hela-S3	cervix:	n/a	chr14:70265249-70265260 chr14:70265249-70265262 chr14:70265249-70265262

No.	Distal block	Cell Line	Cell type
1	chr14:70232739..70236319-chr14:70264002..70267714,4	MCF-7	breast:
2	chr14:70261200..70263802-chr14:70264379..70267059,2	MCF-7	breast:
3	chr14:70264666..70266507-chr14:70268472..70271032,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SRSF5-1	chr14:70265065-70266679	NONHSAT037545

Variant related genes	Relation type
SLC10A1	TF binding region
ENSG00000100650	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10130174	0.91[CEU][hapmap];0.95[EUR][1000 genomes]
rs10145643	0.93[EUR][1000 genomes]
rs10498531	0.85[GIH][hapmap]
rs11626135	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.83[MEX][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11626930	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11628140	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11628646	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes]
rs11628755	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11629222	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12431918	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes]
rs12434311	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12434937	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12436240	1.00[CHB][hapmap]
rs17107282	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes]
rs28488181	0.91[EUR][1000 genomes]
rs28595072	0.95[EUR][1000 genomes]
rs2877596	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4340264	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4341691	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs45527638	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs56063215	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs56154784	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61982072	1.00[AFR][1000 genomes]
rs61982074	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs61982101	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61982104	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61982105	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs61982106	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61982107	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7159823	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.85[TSI][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72725721	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72725750	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8013586	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs8014462	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs8018389	0.95[EUR][1000 genomes]
rs8019166	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs8020042	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.83[MEX][hapmap];0.94[TSI][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs943276	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];0.94[TSI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs943277	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];0.83[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[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	nsv456336	chr14:70081956-70574149	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
2	nsv565007	chr14:70081956-70574149	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70248200-70271600	Weak transcription	Psoas Muscle	Psoas
2	chr14:70254200-70265800	Weak transcription	Spleen	Spleen
3	chr14:70254800-70275600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr14:70263400-70265400	Enhancers	Placenta	Placenta
5	chr14:70263600-70265200	Enhancers	Stomach Mucosa	stomach
6	chr14:70264000-70265200	Enhancers	Fetal Intestine Small	intestine
7	chr14:70264000-70265200	Enhancers	Rectal Mucosa Donor 31	rectum
8	chr14:70264000-70265800	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr14:70264200-70265200	Enhancers	Colonic Mucosa	Colon
10	chr14:70264600-70266000	Enhancers	HepG2	liver
11	chr14:70265000-70265200	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr14:70265000-70265200	Enhancers	Gastric	stomach
13	chr14:70265000-70266600	Enhancers	Liver	Liver

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