Variant report

Variant	rs34802338
Chromosome Location	chr11:67312466-67312467
allele	A/G
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	TCF7L2	chr11:67312195-67312505	PANC-1	pancreas:	n/a	n/a

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

Variant related genes	Relation type
RN7SL59P	TF binding region
ENSG00000110697	Chromatin interaction
ENSG00000167797	Chromatin interaction
ENSG00000167799	Chromatin interaction
ENSG00000244152	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11605586	0.81[EUR][1000 genomes]
rs1254119	0.80[EUR][1000 genomes]
rs1871036	0.97[EUR][1000 genomes]
rs34721562	0.81[AFR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4320958	0.97[EUR][1000 genomes]
rs4930430	0.83[EUR][1000 genomes]
rs4930431	0.82[EUR][1000 genomes]
rs57808037	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6591244	0.97[EUR][1000 genomes]
rs6591245	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7106423	0.82[EUR][1000 genomes]
rs7106675	0.81[AFR][1000 genomes];0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7934075	0.83[EUR][1000 genomes]
rs7938563	0.97[EUR][1000 genomes]
rs7948823	0.81[EUR][1000 genomes]
rs7952081	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]

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:3)

SNP	Gene	Cis/trans	Tissue	Source
rs34802338	GSTP1	cis	Esophagus Muscularis	GTEx
rs34802338	PTPRCAP	cis	Artery Tibial	GTEx
rs34802338	PTPRCAP	cis	Nerve Tibial	GTEx

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:67309600-67314600	Enhancers	Dnd41	blood
2	chr11:67309800-67312800	Enhancers	Fetal Muscle Trunk	muscle
3	chr11:67310400-67313200	Enhancers	Duodenum Mucosa	Duodenum
4	chr11:67310800-67314400	Enhancers	Colonic Mucosa	Colon
5	chr11:67310800-67314800	Enhancers	Pancreas	Pancrea
6	chr11:67311000-67313200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr11:67311200-67312600	Weak transcription	Ovary	ovary
8	chr11:67311200-67312800	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr11:67311200-67313200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr11:67311400-67313800	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr11:67311600-67312600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr11:67311600-67313200	Enhancers	Fetal Intestine Large	intestine
13	chr11:67311800-67312800	Enhancers	Hela-S3	cervix
14	chr11:67311800-67314600	Enhancers	Fetal Intestine Small	intestine
15	chr11:67312000-67312800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr11:67312000-67312800	Enhancers	Fetal Muscle Leg	muscle
17	chr11:67312000-67312800	Enhancers	A549	lung
18	chr11:67312000-67313400	Enhancers	Fetal Heart	heart
19	chr11:67312200-67312600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr11:67312200-67312800	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr11:67312200-67312800	Enhancers	Fetal Kidney	kidney
22	chr11:67312200-67312800	Flanking Active TSS	HepG2	liver
23	chr11:67312200-67313000	Enhancers	Left Ventricle	heart
24	chr11:67312200-67313000	Bivalent Enhancer	Stomach Smooth Muscle	stomach
25	chr11:67312200-67313000	Enhancers	HSMMtube	muscle
26	chr11:67312200-67313200	Enhancers	Liver	Liver
27	chr11:67312200-67313200	Enhancers	Right Atrium	heart
28	chr11:67312200-67313200	Enhancers	Right Ventricle	heart
29	chr11:67312200-67313200	Enhancers	Stomach Mucosa	stomach
30	chr11:67312200-67313200	Enhancers	K562	blood
31	chr11:67312400-67312800	Flanking Active TSS	Adipose Nuclei	Adipose
32	chr11:67312400-67312800	Enhancers	Esophagus	oesophagus
33	chr11:67312400-67312800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
34	chr11:67312400-67312800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
35	chr11:67312400-67312800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
36	chr11:67312400-67313200	Enhancers	Skeletal Muscle Female	skeletal muscle
37	chr11:67312400-67313200	Enhancers	Spleen	Spleen

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