Variant report

Variant	rs6591245
Chromosome Location	chr11:67310936-67310937
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:67310074..67312796-chr11:67395980..67398997,3	K562	blood:
2	chr11:67309805..67311983-chr11:67342547..67345264,2	K562	blood:
3	chr11:67294127..67296248-chr11:67310062..67312505,2	MCF-7	breast:
4	chr11:67306648..67309517-chr11:67310700..67312704,2	K562	blood:
5	chr11:67272876..67275672-chr11:67310253..67312685,2	K562	blood:

Variant related genes	Relation type
ENSG00000244152	Chromatin interaction
ENSG00000167797	Chromatin interaction
ENSG00000167799	Chromatin interaction
ENSG00000110697	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs11601325	0.84[CEU][hapmap];0.86[JPT][hapmap]
rs11603991	0.93[CHB][hapmap]
rs11605586	0.81[EUR][1000 genomes]
rs12421329	0.92[CHB][hapmap]
rs1254119	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12790798	0.92[CHB][hapmap]
rs12793832	0.92[CHB][hapmap]
rs1695	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1871034	0.88[CEU][hapmap];1.00[JPT][hapmap]
rs1871036	0.82[AFR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1871042	0.84[CHB][hapmap];0.86[JPT][hapmap]
rs1871043	0.93[CHB][hapmap]
rs2370141	0.96[CEU][hapmap];0.91[CHB][hapmap];0.88[JPT][hapmap]
rs2514022	0.92[CHB][hapmap]
rs34721562	0.83[AFR][1000 genomes];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs34802338	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4024254	0.92[CHB][hapmap]
rs4084113	0.86[JPT][hapmap]
rs4148959	0.92[CHB][hapmap]
rs4320958	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4465371	0.86[JPT][hapmap]
rs4891	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs4930430	1.00[CEU][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4930431	1.00[CEU][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs57808037	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs611663	0.80[CEU][hapmap]
rs6591244	0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6591251	0.96[CEU][hapmap];0.85[CHB][hapmap];0.88[JPT][hapmap]
rs6591252	0.96[CEU][hapmap];0.85[CHB][hapmap];0.88[JPT][hapmap]
rs6591256	0.96[CEU][hapmap];0.84[CHB][hapmap];0.88[JPT][hapmap]
rs7103632	0.93[CHB][hapmap]
rs7106423	0.96[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs7106675	1.00[CHB][hapmap];0.82[JPT][hapmap];0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7114510	0.84[CEU][hapmap];0.86[JPT][hapmap]
rs749174	0.84[CHB][hapmap];0.86[JPT][hapmap]
rs762803	0.96[CEU][hapmap];0.90[CHB][hapmap]
rs7934075	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7938563	0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7941395	0.96[CEU][hapmap];0.84[CHB][hapmap];0.88[JPT][hapmap]
rs7941648	0.96[CEU][hapmap];0.84[CHB][hapmap];0.88[JPT][hapmap]
rs7948073	0.93[CHB][hapmap]
rs7948823	0.81[EUR][1000 genomes]
rs7952081	0.96[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.89[YRI][hapmap];0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs917570	0.85[CEU][hapmap]
rs947895	0.84[CHB][hapmap];0.86[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 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	nsv521723	chr11:67175692-67311258	Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
8	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:4)

SNP	Gene	Cis/trans	Tissue	Source
rs6591245	RPS6KB2	cis	multi-tissue	Pritchard
rs6591245	GSTP1	cis	Esophagus Muscularis	GTEx
rs6591245	PTPRCAP	cis	Nerve Tibial	GTEx
rs6591245	PTPRCAP	cis	Artery Tibial	GTEx

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:67305200-67312200	Weak transcription	Right Ventricle	heart
2	chr11:67307000-67312400	Weak transcription	Esophagus	oesophagus
3	chr11:67307200-67311800	Weak transcription	Hela-S3	cervix
4	chr11:67307600-67312400	Weak transcription	Spleen	Spleen
5	chr11:67308000-67312200	Weak transcription	K562	blood
6	chr11:67309600-67311600	Enhancers	Fetal Muscle Leg	muscle
7	chr11:67309600-67314600	Enhancers	Dnd41	blood
8	chr11:67309800-67311000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr11:67309800-67312800	Enhancers	Fetal Muscle Trunk	muscle
10	chr11:67310400-67311000	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr11:67310400-67311000	Enhancers	H1 Cell Line	embryonic stem cell
12	chr11:67310400-67311200	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr11:67310400-67312200	Enhancers	HepG2	liver
14	chr11:67310400-67312400	Enhancers	Rectal Mucosa Donor 31	rectum
15	chr11:67310400-67313200	Enhancers	Duodenum Mucosa	Duodenum
16	chr11:67310600-67311000	Enhancers	A549	lung
17	chr11:67310600-67311200	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
18	chr11:67310600-67312200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr11:67310600-67312400	Enhancers	Rectal Mucosa Donor 29	rectum
20	chr11:67310800-67311000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr11:67310800-67311000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr11:67310800-67311400	Enhancers	Sigmoid Colon	Sigmoid Colon
23	chr11:67310800-67311800	Weak transcription	Fetal Intestine Small	intestine
24	chr11:67310800-67314400	Enhancers	Colonic Mucosa	Colon
25	chr11:67310800-67314800	Enhancers	Pancreas	Pancrea

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