Variant report

Variant	rs7303401
Chromosome Location	chr12:121404056-121404057
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:121403725..121406245-chr12:121406756..121408586,2	MCF-7	breast:
2	chr12:121388985..121390758-chr12:121403541..121406125,2	K562	blood:
3	chr12:121174261..121175937-chr12:121403993..121406712,2	MCF-7	breast:

Extended variants
information (count: 23 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10849823	0.90[EUR][1000 genomes]
rs10849824	0.97[EUR][1000 genomes]
rs1882149	0.82[CEU][hapmap]
rs2251556	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2254779	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2393777	0.87[EUR][1000 genomes]
rs4371007	0.94[EUR][1000 genomes]
rs55956549	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7132164	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7135458	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73226268	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73226290	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs73226296	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs73228105	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs73228108	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7961178	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs959398	0.87[TSI][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	nsv521928	chr12:121041728-121761800	Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv1037070	chr12:121069938-121459047	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv899559	chr12:121324727-121592689	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer 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
4	nsv899560	chr12:121371233-121560581	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
5	nsv899561	chr12:121376416-121525591	Enhancers Flanking Active TSS Active TSS Genic enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	nsv899562	chr12:121376416-121565870	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7303401	FLJ12448	cis	multi-tissue	Pritchard
rs7303401	KRT18	trans	lymphoblastoid	seeQTL

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121394600-121408200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:121395800-121408200	Weak transcription	Fetal Kidney	kidney
3	chr12:121397600-121406800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr12:121397800-121405400	Weak transcription	Pancreas	Pancrea
5	chr12:121400000-121405400	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr12:121400000-121406600	Weak transcription	Gastric	stomach
7	chr12:121400400-121404800	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr12:121400600-121404800	Weak transcription	Fetal Intestine Large	intestine
9	chr12:121400600-121416000	Weak transcription	Small Intestine	intestine
10	chr12:121400800-121406600	Weak transcription	A549	lung
11	chr12:121400800-121406600	Weak transcription	HepG2	liver
12	chr12:121401600-121406600	Weak transcription	Liver	Liver
13	chr12:121403200-121409400	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr12:121403600-121404200	ZNF genes & repeats	Fetal Intestine Small	intestine
15	chr12:121403600-121404400	Enhancers	Esophagus	oesophagus
16	chr12:121403800-121404200	Active TSS	Duodenum Mucosa	Duodenum
17	chr12:121403800-121411000	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr12:121404000-121406600	Weak transcription	Colonic Mucosa	Colon
19	chr12:121404000-121406600	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr12:121404000-121406800	Weak transcription	Stomach Mucosa	stomach

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