Variant report

Variant	rs514182
Chromosome Location	chr11:35034307-35034308
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:35028741..35031427-chr11:35032787..35035913,3	K562	blood:

Extended variants
information (count: 67 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10836323	0.83[ASN][1000 genomes]
rs1326940	0.80[CHB][hapmap]
rs1326942	0.80[CHB][hapmap]
rs1326943	0.80[CHB][hapmap]
rs1430855	0.80[CHB][hapmap]
rs1544079	0.84[CEU][hapmap];0.85[CHB][hapmap];0.90[JPT][hapmap]
rs1571133	0.80[CHB][hapmap]
rs1571134	0.80[CHB][hapmap]
rs1571135	0.80[CHB][hapmap]
rs1648123	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1977420	0.80[CHB][hapmap]
rs1977421	0.80[CHB][hapmap]
rs1998603	0.80[CHB][hapmap]
rs1998912	0.85[CHB][hapmap]
rs2281809	0.83[ASN][1000 genomes]
rs2288667	0.80[CHB][hapmap];0.80[JPT][hapmap]
rs2732531	0.84[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs2732532	0.80[ASN][1000 genomes]
rs2732557	0.83[ASN][1000 genomes]
rs2732558	0.83[ASN][1000 genomes]
rs2761819	0.82[ASN][1000 genomes]
rs2761821	0.83[ASN][1000 genomes]
rs2761822	0.83[ASN][1000 genomes]
rs2762956	0.85[CHB][hapmap];0.90[JPT][hapmap]
rs2762958	0.83[ASN][1000 genomes]
rs2762960	0.83[ASN][1000 genomes]
rs2915181	0.83[ASN][1000 genomes]
rs2915193	0.85[CHB][hapmap]
rs2915204	0.83[CHB][hapmap]
rs2915205	0.85[CHB][hapmap]
rs2915215	0.80[CHB][hapmap]
rs2915220	0.80[CHB][hapmap]
rs2915221	0.82[CHB][hapmap]
rs2915222	0.80[CHB][hapmap]
rs2915223	0.80[CHB][hapmap]
rs2915224	0.80[CHB][hapmap]
rs2915227	0.83[ASN][1000 genomes]
rs2956087	0.84[CHB][hapmap]
rs2956106	0.85[CHB][hapmap]
rs2956107	0.84[CHB][hapmap]
rs2956114	0.80[CHB][hapmap]
rs2985381	0.80[CHB][hapmap]
rs2985389	0.80[CHB][hapmap]
rs2985390	0.80[CHB][hapmap]
rs2985391	0.80[JPT][hapmap]
rs2985401	0.83[ASN][1000 genomes]
rs2985403	0.85[CHB][hapmap]
rs2985405	0.84[CHB][hapmap]
rs2986410	0.85[CHB][hapmap]
rs2986425	0.80[CHB][hapmap]
rs2986427	0.80[CHB][hapmap]
rs497109	0.86[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs504034	0.85[CHB][hapmap];0.90[JPT][hapmap]
rs523472	0.86[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs589626	0.83[ASN][1000 genomes]
rs614668	0.80[CHB][hapmap];0.85[JPT][hapmap];0.83[ASN][1000 genomes]
rs746124	0.80[CHB][hapmap];0.90[JPT][hapmap];0.83[ASN][1000 genomes]
rs9326	0.85[CHB][hapmap];0.90[JPT][hapmap]
rs952489	0.84[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs997664	0.82[AMR][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	nsv1045837	chr11:34893992-35395190	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	nsv430371	chr11:34975067-35111292	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	esv1826391	chr11:35000983-35098193	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
4	nsv897215	chr11:35009233-35048359	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats	Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
5	nsv540999	chr11:35021936-35185471	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
6	esv2758263	chr11:35029933-35226784	Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
7	esv2759818	chr11:35029933-35238578	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs514182	APIP	cis	Lymphoblastoid	GTEx
rs514182	APIP	cis	multi-tissue	Pritchard
rs514182	APIP	cis	lymphoblastoid	seeQTL

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:35000600-35035000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr11:35007200-35035200	Weak transcription	Fetal Stomach	stomach
3	chr11:35019800-35035400	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr11:35025400-35035200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr11:35028400-35039600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr11:35028600-35051600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr11:35029600-35036200	Enhancers	Fetal Muscle Leg	muscle
8	chr11:35030000-35035000	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr11:35030000-35035000	Weak transcription	Adipose Nuclei	Adipose
10	chr11:35030000-35037400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr11:35030400-35036000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr11:35030800-35034400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr11:35031200-35034800	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr11:35031400-35035400	Weak transcription	Colon Smooth Muscle	Colon
15	chr11:35031600-35035400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr11:35031600-35035400	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr11:35031800-35035000	Weak transcription	Rectal Smooth Muscle	rectum
18	chr11:35031800-35035000	Weak transcription	NH-A	brain
19	chr11:35032000-35035000	Weak transcription	Stomach Mucosa	stomach
20	chr11:35032200-35035000	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr11:35032200-35035600	Weak transcription	HSMM	muscle
22	chr11:35032200-35035800	Weak transcription	HSMMtube	muscle
23	chr11:35032200-35036000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr11:35032200-35037600	Weak transcription	Fetal Intestine Large	intestine
25	chr11:35032400-35034600	Weak transcription	Small Intestine	intestine
26	chr11:35032400-35035400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr11:35032600-35034600	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr11:35032600-35035000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr11:35032600-35035000	Weak transcription	NHEK	skin
30	chr11:35032600-35035800	Enhancers	Hela-S3	cervix
31	chr11:35032800-35035000	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr11:35032800-35037800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr11:35033000-35039200	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr11:35033000-35039200	Weak transcription	HepG2	liver
35	chr11:35033000-35039400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr11:35033200-35035000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr11:35033200-35035200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
38	chr11:35033200-35035600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr11:35033200-35036000	Enhancers	Primary T cells fromperipheralblood	blood
40	chr11:35033200-35036000	Enhancers	Primary T helper naive cells from peripheral blood	blood
41	chr11:35033200-35036200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
42	chr11:35033200-35036200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr11:35033200-35036400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
44	chr11:35033200-35037000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr11:35033200-35043400	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr11:35033400-35035400	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr11:35033400-35035400	Weak transcription	Osteobl	bone
48	chr11:35033400-35035600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
49	chr11:35033400-35036200	Enhancers	Primary T helper cells fromperipheralblood	blood
50	chr11:35033400-35036400	Enhancers	A549	lung

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