Variant report

Variant	rs7106423
Chromosome Location	chr11:67314144-67314145
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	chr11:67308301..67310313-chr11:67313497..67315671,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000244152	Chromatin interaction

Extended variants
information (count: 64 )
Associated
traits (count: 10 )

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

rs_ID	r²[population]
rs1079719	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10896181	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11601325	0.80[CEU][hapmap];0.86[JPT][hapmap]
rs11605586	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1695	0.84[CHB][hapmap];1.00[JPT][hapmap]
rs17593068	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1871034	0.84[CEU][hapmap];1.00[JPT][hapmap]
rs1871036	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1871042	1.00[CHB][hapmap];0.89[CHD][hapmap];0.86[JPT][hapmap]
rs2370141	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2370142	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2370143	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34721562	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34802338	0.82[EUR][1000 genomes]
rs36211089	0.80[EUR][1000 genomes]
rs4084113	0.86[JPT][hapmap]
rs4147581	0.81[CEU][hapmap]
rs4320958	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4465371	0.86[JPT][hapmap]
rs4891	0.84[CHB][hapmap];0.86[JPT][hapmap]
rs4930430	0.96[CEU][hapmap];1.00[JPT][hapmap]
rs4930431	0.96[CEU][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];0.88[MKK][hapmap]
rs4930436	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs55854833	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs58046082	0.92[EUR][1000 genomes]
rs614080	0.81[CEU][hapmap]
rs625978	0.82[CEU][hapmap]
rs656652	0.82[CEU][hapmap]
rs6591244	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6591245	0.96[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs6591249	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6591251	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6591252	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6591254	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6591255	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6591256	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.87[GIH][hapmap];0.88[JPT][hapmap];0.90[MEX][hapmap];0.84[TSI][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7103713	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7106675	0.82[JPT][hapmap];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7108426	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7114510	0.80[CEU][hapmap];0.86[JPT][hapmap]
rs749174	1.00[CHB][hapmap];0.92[CHD][hapmap];0.86[JPT][hapmap]
rs762803	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7927657	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7938563	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7940813	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7941395	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.87[GIH][hapmap];0.88[JPT][hapmap];0.90[MEX][hapmap];0.84[TSI][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7941648	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.87[GIH][hapmap];0.88[JPT][hapmap];0.90[MEX][hapmap];0.84[TSI][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7945035	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7945927	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7948478	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7948823	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7948911	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7949394	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7949587	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7952081	1.00[CEU][hapmap];0.84[CHB][hapmap];1.00[GIH][hapmap];0.88[JPT][hapmap];0.93[TSI][hapmap];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs917570	0.80[CEU][hapmap];0.86[JPT][hapmap]
rs947895	1.00[CHB][hapmap];0.92[CHD][hapmap];0.86[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	nsv531397	chr11:66653381-67465721	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	271 gene(s)	inside rSNPs	diseases
2	nsv1043037	chr11:67027193-67357425	Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases
3	nsv897801	chr11:67033076-67432479	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	236 gene(s)	inside rSNPs	diseases
4	nsv897807	chr11:67155210-67414492	Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	176 gene(s)	inside rSNPs	diseases
5	nsv897808	chr11:67155210-67419855	Flanking Active TSS Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Active TSS 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 miRNA target site	176 gene(s)	inside rSNPs	diseases
6	nsv534229	chr11:67164667-67411909	Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	175 gene(s)	inside rSNPs	diseases
7	esv2422195	chr11:67234322-67626901	Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	146 gene(s)	inside rSNPs	diseases

mRNA abundance (count:10)

SNP	Gene	Cis/trans	Tissue	Source
rs7106423	TBC1D10C	cis	parietal	SCAN
rs7106423	NDUFV1	cis	parietal	SCAN
rs7106423	ATG2A	cis	parietal	SCAN
rs7106423	RPS6KB2	cis	Lymphoblastoid	GTEx
rs7106423	RPS6KB2	cis	multi-tissue	Pritchard
rs7106423	PTPRCAP	cis	Nerve Tibial	GTEx
rs7106423	GSTP1	cis	cerebellum	SCAN
rs7106423	RTN3	cis	parietal	SCAN
rs7106423	RPS6KB2	cis	lymphoblastoid	seeQTL
rs7106423	GSTP1	cis	parietal	SCAN

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:67309600-67314600	Enhancers	Dnd41	blood
2	chr11:67310800-67314400	Enhancers	Colonic Mucosa	Colon
3	chr11:67310800-67314800	Enhancers	Pancreas	Pancrea
4	chr11:67311800-67314600	Enhancers	Fetal Intestine Small	intestine
5	chr11:67312800-67314400	Bivalent Enhancer	Fetal Muscle Leg	muscle
6	chr11:67312800-67314600	Enhancers	Rectal Mucosa Donor 31	rectum
7	chr11:67313200-67314200	Weak transcription	K562	blood
8	chr11:67313200-67314400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr11:67313200-67314400	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr11:67313200-67316000	Weak transcription	Liver	Liver
11	chr11:67313200-67316000	Weak transcription	HepG2	liver
12	chr11:67313200-67316200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr11:67313600-67314200	Enhancers	Duodenum Mucosa	Duodenum
14	chr11:67314000-67314400	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr11:67314000-67325400	Weak transcription	Fetal Heart	heart

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