Variant report

Variant	rs11101263
Chromosome Location	chr10:49414181-49414182
allele	C/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	CTCF	chr10:49414080-49414230	GM12865	blood:	n/a	n/a
2	BATF	chr10:49414016-49414278	GM12878	blood:	n/a	chr10:49414164-49414174
3	BATF	chr10:49414070-49414325	GM12878	blood:	n/a	chr10:49414164-49414174
4	EBF1	chr10:49414017-49414257	GM12878	blood:	n/a	n/a
5	FOS	chr10:49414073-49414271	MCF10A-Er-Src	breast:	n/a	chr10:49414162-49414172 chr10:49414162-49414172 chr10:49414162-49414172
6	EBF1	chr10:49414086-49414445	GM12878	blood:	n/a	n/a
7	FOS	chr10:49414027-49414310	MCF10A-Er-Src	breast:	n/a	chr10:49414162-49414172 chr10:49414162-49414172 chr10:49414162-49414172
8	FOS	chr10:49413985-49414218	MCF10A-Er-Src	breast:	n/a	chr10:49414162-49414172 chr10:49414162-49414172 chr10:49414162-49414172
9	CTCF	chr10:49414097-49414225	GM12878	blood:	n/a	n/a
10	EBF1	chr10:49414055-49414263	GM12878	blood:	n/a	n/a
11	MEF2A	chr10:49414063-49414441	GM12878	blood:	n/a	chr10:49414247-49414261 chr10:49414242-49414263
12	CTCF	chr10:49414060-49414210	HEEpiC	esophagus:	n/a	n/a
13	POU2F2	chr10:49414006-49414394	GM12878	blood:	n/a	chr10:49414191-49414200 chr10:49414182-49414196 chr10:49414192-49414199
14	CTCF	chr10:49414060-49414210	RPTEC	kidney:	n/a	n/a
15	CTCF	chr10:49414160-49414310	RPTEC	kidney:	n/a	n/a
16	ZNF143	chr10:49414114-49414191	GM12878	blood:	n/a	n/a
17	RUNX3	chr10:49414029-49414232	GM12878	blood:	n/a	n/a
18	RUNX3	chr10:49413925-49414325	GM12878	blood:	n/a	n/a
19	POU2F2	chr10:49413979-49414299	GM12878	blood:	n/a	chr10:49414191-49414200 chr10:49414182-49414196 chr10:49414192-49414199
20	FOS	chr10:49413984-49414227	MCF10A-Er-Src	breast:	n/a	chr10:49414162-49414172 chr10:49414162-49414172 chr10:49414162-49414172

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:49390312..49393030-chr10:49413165..49415155,2	K562	blood:

Variant related genes	Relation type
FRMPD2	TF binding region

Extended variants
information (count: 42 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11101258	1.00[CEU][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11101259	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11101262	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11594394	0.96[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12249222	0.96[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12250185	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs12256625	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs12263780	0.84[AMR][1000 genomes]
rs1367023	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1367024	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17010513	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17697168	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17697186	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17697300	0.85[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs17769912	0.94[ASN][1000 genomes]
rs17769978	0.94[ASN][1000 genomes]
rs17769990	0.86[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs1864345	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs2652367	0.82[JPT][hapmap]
rs3906617	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4491171	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4838578	0.85[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs4838580	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs4838582	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs56036047	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57786719	0.91[ASN][1000 genomes]
rs61840036	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61840037	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61840038	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6537556	0.84[AMR][1000 genomes]
rs7068878	0.81[AMR][1000 genomes]
rs7897122	0.95[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs7906257	0.86[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7907898	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9651393	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv497860	chr10:49002272-49431037	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv831864	chr10:49299274-49450299	Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv895366	chr10:49299274-49576454	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv895367	chr10:49333754-49491047	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv895368	chr10:49381635-49551560	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv467190	chr10:49402084-49576878	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv550811	chr10:49402084-49576878	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:49396000-49420800	Weak transcription	Brain Anterior Caudate	brain
2	chr10:49413000-49414800	Enhancers	GM12878-XiMat	blood

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