Variant report

Variant	rs6660507
Chromosome Location	chr1:146620153-146620154
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	chr1:146618023..146620709-chr1:146623183..146625332,2	K562	blood:

Extended variants
information (count: 119 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:99)

rs_ID	r²[population]
rs11239954	0.88[CEU][hapmap]
rs11800580	0.94[CEU][hapmap]
rs11809339	0.84[EUR][1000 genomes]
rs11811023	0.88[CEU][hapmap];0.86[EUR][1000 genomes]
rs12028032	0.81[CHB][hapmap]
rs12046706	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12144722	0.89[ASN][1000 genomes]
rs1372820	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs17159914	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17159924	0.94[CEU][hapmap];0.86[EUR][1000 genomes]
rs17160050	0.89[CEU][hapmap]
rs17160051	0.88[CEU][hapmap]
rs17355398	0.89[CEU][hapmap];0.86[EUR][1000 genomes]
rs17355419	0.88[EUR][1000 genomes]
rs17355474	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17355509	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17356184	0.94[CEU][hapmap]
rs17356219	0.94[CEU][hapmap]
rs17356233	0.94[CEU][hapmap]
rs17356240	0.94[CEU][hapmap]
rs17359629	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17360443	0.94[CEU][hapmap]
rs1813002	0.87[EUR][1000 genomes]
rs1822304	0.93[ASN][1000 genomes]
rs1822309	0.96[EUR][1000 genomes]
rs1932977	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1999820	0.94[CEU][hapmap]
rs2014106	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2077749	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2083720	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2354428	0.94[CEU][hapmap]
rs28381210	0.86[EUR][1000 genomes]
rs2883323	0.94[CEU][hapmap]
rs2883324	0.94[CEU][hapmap]
rs2883434	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3737855	0.88[CEU][hapmap]
rs3766519	0.94[CEU][hapmap];0.84[EUR][1000 genomes]
rs3766520	0.94[CEU][hapmap];0.84[EUR][1000 genomes]
rs3766522	0.94[CEU][hapmap];0.91[EUR][1000 genomes]
rs4301678	0.94[CEU][hapmap]
rs4373796	0.93[CEU][hapmap]
rs4453096	0.94[CEU][hapmap]
rs4558036	0.85[ASN][1000 genomes]
rs4568882	0.94[CEU][hapmap]
rs4950304	0.88[CEU][hapmap];0.93[EUR][1000 genomes]
rs4950305	0.89[CEU][hapmap];0.93[EUR][1000 genomes]
rs4950306	0.89[CEU][hapmap];0.92[EUR][1000 genomes]
rs4950308	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs4950315	0.94[CEU][hapmap]
rs4950316	0.94[CEU][hapmap]
rs4950318	0.94[CEU][hapmap]
rs4950367	0.86[EUR][1000 genomes]
rs4950371	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4950379	0.88[EUR][1000 genomes]
rs4950382	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4950384	0.86[EUR][1000 genomes]
rs4950392	0.94[CEU][hapmap]
rs55697094	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs55791847	0.86[EUR][1000 genomes]
rs55799799	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs55828524	0.86[EUR][1000 genomes]
rs55963049	0.86[EUR][1000 genomes]
rs56012243	0.81[EUR][1000 genomes]
rs56080828	0.85[EUR][1000 genomes]
rs56151278	0.93[EUR][1000 genomes]
rs56198825	0.93[EUR][1000 genomes]
rs56864370	0.82[EUR][1000 genomes]
rs61838936	0.84[EUR][1000 genomes]
rs61838937	0.84[EUR][1000 genomes]
rs61838938	0.84[EUR][1000 genomes]
rs61838944	0.88[EUR][1000 genomes]
rs61838945	0.88[EUR][1000 genomes]
rs61838947	0.88[EUR][1000 genomes]
rs61838951	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6593745	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs6593749	0.83[JPT][hapmap]
rs6686480	1.00[CEU][hapmap]
rs6703892	0.94[CEU][hapmap]
rs6937	0.85[CHB][hapmap]
rs718369	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs720609	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs72706428	0.88[EUR][1000 genomes]
rs72706441	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72706444	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72708536	0.86[EUR][1000 genomes]
rs7514808	0.84[EUR][1000 genomes]
rs7514970	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7515160	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7523021	0.87[ASN][1000 genomes]
rs7523450	0.85[CHB][hapmap]
rs7523975	0.84[EUR][1000 genomes]
rs7525703	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs7526343	0.81[CHB][hapmap]
rs7527894	0.87[ASN][1000 genomes]
rs7538682	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7541393	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7548475	0.92[ASN][1000 genomes]
rs7554833	0.94[CEU][hapmap]
rs972368	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757753	chr1:145883119-146697542	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	nsv872251	chr1:146152553-146803630	Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
3	nsv872252	chr1:146471863-147398135	Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	112 gene(s)	inside rSNPs	diseases
4	nsv999546	chr1:146507577-147356574	Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	110 gene(s)	inside rSNPs	diseases
5	nsv535123	chr1:146507577-147356574	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer 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	110 gene(s)	inside rSNPs	diseases
6	nsv492188	chr1:146507649-147381479	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	110 gene(s)	inside rSNPs	diseases
7	nsv916754	chr1:146507711-147417736	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	113 gene(s)	inside rSNPs	diseases
8	nsv547673	chr1:146510112-147398135	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
9	nsv547674	chr1:146522722-147396797	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
10	nsv998341	chr1:146531446-147384720	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	110 gene(s)	inside rSNPs	diseases
11	nsv535124	chr1:146531446-147384720	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	110 gene(s)	inside rSNPs	diseases
12	nsv1003493	chr1:146531446-147389944	Weak transcription Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	110 gene(s)	inside rSNPs	diseases
13	nsv998209	chr1:146543722-147384720	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	110 gene(s)	inside rSNPs	diseases
14	nsv535126	chr1:146543722-147384720	Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	110 gene(s)	inside rSNPs	diseases
15	nsv872255	chr1:146550780-146969712	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer 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	93 gene(s)	inside rSNPs	diseases
16	nsv872256	chr1:146556596-147410973	Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
17	nsv1012331	chr1:146603479-147384720	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
18	nsv535131	chr1:146603479-147384720	Genic enhancers Strong transcription Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
19	nsv1009943	chr1:146618929-146893851	Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
20	nsv535132	chr1:146618929-146893851	Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6660507	RP11-337C18.8	cis	Thyroid	GTEx
rs6660507	CHD1L	cis	Whole Blood	GTEx

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:146616800-146625200	Weak transcription	Pancreas	Pancrea
2	chr1:146617000-146624800	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr1:146618600-146625400	Weak transcription	Stomach Smooth Muscle	stomach
4	chr1:146618800-146628800	Weak transcription	Lung	lung
5	chr1:146618800-146628800	Weak transcription	Spleen	Spleen
6	chr1:146619200-146630600	Weak transcription	Gastric	stomach
7	chr1:146619800-146625200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr1:146619800-146628000	Weak transcription	HSMMtube	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links