Variant report

Variant	rs13375736
Chromosome Location	chr1:161380911-161380912
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:161379123..161382070-chr1:161387001..161390523,3	K562	blood:

Extended variants
information (count: 72 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10494350	0.85[CEU][hapmap]
rs10494351	0.85[CEU][hapmap]
rs10494352	1.00[TSI][hapmap]
rs10494353	0.85[CEU][hapmap]
rs10494354	0.85[CEU][hapmap]
rs10494355	0.85[CEU][hapmap];1.00[TSI][hapmap]
rs1133805	0.85[CEU][hapmap];1.00[TSI][hapmap]
rs12239492	0.85[CEU][hapmap]
rs13375742	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13375751	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13375836	0.82[CEU][hapmap];0.93[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13376294	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs16832809	0.85[CEU][hapmap]
rs16832811	0.85[CEU][hapmap]
rs16832813	0.85[CEU][hapmap];1.00[TSI][hapmap]
rs16832817	0.85[CEU][hapmap]
rs16832820	0.85[CEU][hapmap]
rs16832823	0.85[CEU][hapmap];1.00[TSI][hapmap]
rs16832824	0.85[CEU][hapmap]
rs16832826	0.85[CEU][hapmap]
rs16832835	0.85[CEU][hapmap]
rs16832842	0.85[CEU][hapmap]
rs16832851	0.82[CEU][hapmap];1.00[TSI][hapmap]
rs16832854	0.85[CEU][hapmap]
rs16832869	0.85[CEU][hapmap]
rs16832871	0.85[CEU][hapmap];1.00[TSI][hapmap]
rs16832874	0.85[CEU][hapmap];1.00[TSI][hapmap]
rs16832883	0.85[CEU][hapmap];1.00[TSI][hapmap]
rs16832884	0.85[CEU][hapmap];1.00[TSI][hapmap]
rs16832887	0.85[CEU][hapmap]
rs16832892	0.85[CEU][hapmap]
rs16832900	0.85[CEU][hapmap];1.00[TSI][hapmap]
rs16832948	0.82[CEU][hapmap]
rs16832949	0.85[CEU][hapmap];0.88[AFR][1000 genomes]
rs28742974	0.89[EUR][1000 genomes]
rs28874117	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3935401	0.85[CEU][hapmap];1.00[TSI][hapmap]
rs4077290	0.85[CEU][hapmap]
rs4077631	0.85[CEU][hapmap]
rs4255402	0.85[CEU][hapmap]
rs4255403	0.85[CEU][hapmap];1.00[TSI][hapmap]
rs4291521	0.85[CEU][hapmap]
rs4463689	0.85[CEU][hapmap]
rs4474277	1.00[CEU][hapmap]
rs4481873	0.85[CEU][hapmap]
rs4585997	0.85[CEU][hapmap]
rs4600063	0.85[CEU][hapmap];1.00[TSI][hapmap]
rs55706531	0.85[EUR][1000 genomes]
rs55754455	0.85[EUR][1000 genomes]
rs55827435	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56295395	0.85[EUR][1000 genomes]
rs56871324	0.85[EUR][1000 genomes]
rs61734585	1.00[EUR][1000 genomes]
rs61998239	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7412460	0.85[CEU][hapmap];1.00[TSI][hapmap]
rs9330294	0.85[CEU][hapmap]
rs9970904	0.85[CEU][hapmap];0.87[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432986	chr1:161221133-161673682	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv1010776	chr1:161282384-161409218	Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
3	nsv432998	chr1:161335902-161673682	Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	62 gene(s)	inside rSNPs	diseases
4	nsv872493	chr1:161339060-161413794	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
5	nsv433009	chr1:161343927-161639328	Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
6	nsv1005812	chr1:161343951-161548101	Weak transcription Bivalent Enhancer Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
7	nsv535182	chr1:161343951-161548101	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
8	esv2756866	chr1:161344255-161681552	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	62 gene(s)	inside rSNPs	diseases
9	esv2758972	chr1:161344255-161681552	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	62 gene(s)	inside rSNPs	diseases
10	nsv998957	chr1:161353351-161398414	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
11	nsv433020	chr1:161355634-161673682	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	60 gene(s)	inside rSNPs	diseases
12	esv2754329	chr1:161355728-161673682	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	60 gene(s)	inside rSNPs	diseases
13	nsv433031	chr1:161355728-161673682	Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	60 gene(s)	inside rSNPs	diseases
14	nsv433042	chr1:161372038-161673682	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
15	nsv946461	chr1:161372505-161384947	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs13375736	RP11-122G18.5	cis	Muscle Skeletal	GTEx
rs13375736	RP11-122G18.5	cis	Adipose Subcutaneous	GTEx
rs13375736	SDHC	cis	Whole Blood	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:161370600-161381800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:161371000-161381400	Weak transcription	Esophagus	oesophagus
3	chr1:161371000-161387800	Weak transcription	Spleen	Spleen
4	chr1:161377400-161381000	Enhancers	Fetal Intestine Large	intestine
5	chr1:161378200-161395400	Weak transcription	Pancreas	Pancrea
6	chr1:161379000-161381200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr1:161379200-161391400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr1:161379600-161390800	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr1:161380000-161381000	Flanking Active TSS	K562	blood
10	chr1:161380200-161381000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
11	chr1:161380200-161381400	Weak transcription	HepG2	liver
12	chr1:161380400-161381000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr1:161380600-161389400	Weak transcription	Fetal Intestine Small	intestine

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