Variant report

Variant	rs598811
Chromosome Location	chr11:67311676-67311677
allele	C/T
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
ENSG00000167799	Chromatin interaction
ENSG00000244152	Chromatin interaction
ENSG00000167797	Chromatin interaction
ENSG00000110697	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10791906	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10896179	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10896180	0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1148883	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1148884	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12225376	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1262166	0.83[ASN][1000 genomes]
rs1269981	0.85[ASN][1000 genomes]
rs2008922	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2508459	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs591434	0.83[ASN][1000 genomes]
rs611663	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs614080	0.81[ASN][1000 genomes]
rs625978	0.81[ASN][1000 genomes]
rs638140	0.85[ASN][1000 genomes]
rs645653	0.81[ASN][1000 genomes]
rs656652	0.81[ASN][1000 genomes]
rs658768	0.83[ASN][1000 genomes]
rs666328	0.83[ASN][1000 genomes]
rs674783	0.81[ASN][1000 genomes]
rs684928	0.85[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:7)

SNP	Gene	Cis/trans	Tissue	Source
rs598811	PTPRCAP	cis	Muscle Skeletal	GTEx
rs598811	NDUFV1	cis	Skin Sun Exposed Lower leg	GTEx
rs598811	PTPRCAP	cis	Nerve Tibial	GTEx
rs598811	PTPRCAP	cis	Heart Left Ventricle	GTEx
rs598811	DOC2GP	cis	Skin Sun Exposed Lower leg	GTEx
rs598811	NUDT8	cis	Heart Left Ventricle	GTEx
rs598811	PTPRCAP	cis	Thyroid	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	chr11:67309600-67314600	Enhancers	Dnd41	blood
7	chr11:67309800-67312800	Enhancers	Fetal Muscle Trunk	muscle
8	chr11:67310400-67312200	Enhancers	HepG2	liver
9	chr11:67310400-67312400	Enhancers	Rectal Mucosa Donor 31	rectum
10	chr11:67310400-67313200	Enhancers	Duodenum Mucosa	Duodenum
11	chr11:67310600-67312200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr11:67310600-67312400	Enhancers	Rectal Mucosa Donor 29	rectum
13	chr11:67310800-67311800	Weak transcription	Fetal Intestine Small	intestine
14	chr11:67310800-67314400	Enhancers	Colonic Mucosa	Colon
15	chr11:67310800-67314800	Enhancers	Pancreas	Pancrea
16	chr11:67311000-67312000	Weak transcription	A549	lung
17	chr11:67311000-67313200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr11:67311200-67312200	Weak transcription	Left Ventricle	heart
19	chr11:67311200-67312600	Weak transcription	Ovary	ovary
20	chr11:67311200-67312800	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr11:67311200-67313200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr11:67311400-67313800	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr11:67311600-67312000	Weak transcription	Fetal Muscle Leg	muscle
24	chr11:67311600-67312600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr11:67311600-67313200	Enhancers	Fetal Intestine Large	intestine

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