Variant report

Variant	rs11235932
Chromosome Location	chr11:73571883-73571884
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:73570812..73572958-chr11:73578378..73580627,2	K562	blood:
2	chr11:73571127..73573037-chr11:73586377..73589618,4	MCF-7	breast:
3	chr11:73568596..73571925-chr11:73573759..73576003,3	K562	blood:
4	chr11:73570812..73572971-chr11:73578378..73580940,3	K562	blood:

Variant related genes	Relation type
ENSG00000175575	Chromatin interaction
ENSG00000181924	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 11 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10898948	0.91[CHB][hapmap];0.85[CHD][hapmap];0.86[ASN][1000 genomes]
rs10898950	0.91[CHB][hapmap];0.83[CHD][hapmap];0.85[ASN][1000 genomes]
rs11220	0.86[CHB][hapmap];0.85[ASN][1000 genomes]
rs1670545	0.91[CHB][hapmap];0.83[ASN][1000 genomes]
rs1670546	0.91[CHB][hapmap];0.85[ASN][1000 genomes]
rs1670558	0.83[ASN][1000 genomes]
rs1792199	0.91[CHB][hapmap];0.83[CHD][hapmap];0.85[ASN][1000 genomes]
rs4362170	0.82[ASN][1000 genomes]
rs7105293	0.91[CHB][hapmap];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530624	chr11:73114283-73646329	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv492091	chr11:73285970-73844424	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
3	nsv1045149	chr11:73314565-73581908	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
4	nsv530641	chr11:73358393-73638725	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
5	nsv1038105	chr11:73552023-73673836	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
6	nsv983206	chr11:73565238-73580462	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:11)

SNP	Gene	Cis/trans	Tissue	Source
rs11235932	WDR71	cis	multi-tissue	Pritchard
rs11235932	MRPL48	cis	parietal	SCAN
rs11235932	FLJ11848	cis	multi-tissue	Pritchard
rs11235932	UCP2	cis	multi-tissue	Pritchard
rs11235932	PAAF1	cis	parietal	SCAN
rs11235932	PAAF1	cis	lymphoblastoid	seeQTL
rs11235932	PAAF1	cis	cerebellum	SCAN
rs11235932	C11orf59	cis	parietal	SCAN
rs11235932	PAAF1	cis	Lymphoblastoid	GTEx
rs11235932	RNF121	cis	cerebellum	SCAN
rs11235932	OMP	cis	parietal	SCAN

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73499600-73583800	Weak transcription	Aorta	Aorta
2	chr11:73500200-73574200	Weak transcription	Right Ventricle	heart
3	chr11:73500400-73583800	Weak transcription	Colonic Mucosa	Colon
4	chr11:73508800-73573800	Weak transcription	Spleen	Spleen
5	chr11:73508800-73575400	Weak transcription	Gastric	stomach
6	chr11:73518400-73584000	Weak transcription	Pancreas	Pancrea
7	chr11:73533000-73580400	Weak transcription	Stomach Mucosa	stomach
8	chr11:73537400-73582600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr11:73539000-73577200	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr11:73539200-73574200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr11:73539200-73583800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr11:73540800-73577400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr11:73541800-73574000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr11:73541800-73583600	Weak transcription	Esophagus	oesophagus
15	chr11:73542400-73577400	Weak transcription	HUVEC	blood vessel
16	chr11:73542600-73577200	Weak transcription	Rectal Smooth Muscle	rectum
17	chr11:73548800-73582000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr11:73549800-73583600	Weak transcription	GM12878-XiMat	blood
19	chr11:73550000-73574000	Weak transcription	A549	lung
20	chr11:73550000-73577200	Weak transcription	HSMMtube	muscle
21	chr11:73550400-73574200	Weak transcription	HSMM	muscle
22	chr11:73550400-73577200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr11:73550400-73577200	Weak transcription	NH-A	brain
24	chr11:73550400-73582400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr11:73554200-73574800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr11:73554800-73575200	Weak transcription	Ovary	ovary
27	chr11:73555000-73577200	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr11:73555600-73573800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr11:73556200-73580400	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr11:73556800-73574400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr11:73556800-73575400	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr11:73557000-73577200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr11:73557800-73572400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr11:73557800-73573800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr11:73558000-73574000	Weak transcription	Fetal Brain Female	brain
36	chr11:73560800-73575000	Weak transcription	Lung	lung
37	chr11:73561200-73572400	Weak transcription	Thymus	Thymus
38	chr11:73561200-73579800	Weak transcription	Fetal Lung	lung
39	chr11:73562400-73572200	Weak transcription	Fetal Intestine Small	intestine
40	chr11:73563000-73574200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr11:73564400-73586000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
42	chr11:73566000-73572600	Weak transcription	Osteobl	bone
43	chr11:73566000-73577600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr11:73566200-73573600	Weak transcription	Primary B cells from peripheral blood	blood
45	chr11:73566400-73572400	Weak transcription	Fetal Muscle Trunk	muscle
46	chr11:73566400-73574600	Weak transcription	Fetal Kidney	kidney
47	chr11:73566400-73577200	Weak transcription	HMEC	breast
48	chr11:73567600-73574200	Weak transcription	Brain Anterior Caudate	brain
49	chr11:73567600-73574400	Weak transcription	Brain Angular Gyrus	brain
50	chr11:73567600-73575200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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