Variant report

Variant	rs7131225
Chromosome Location	chr11:75184875-75184876
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:75184064..75186099-chr11:75244472..75246360,2	K562	blood:
2	chr11:75179585..75185021-chr11:75186117..75188825,5	K562	blood:
3	chr11:75184591..75187071-chr11:75200307..75202910,2	MCF-7	breast:
4	chr11:75182448..75185750-chr11:75189999..75193273,3	K562	blood:

Variant related genes	Relation type
ENSG00000158555	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11236444	1.00[CEU][hapmap];0.89[CHB][hapmap];0.82[JPT][hapmap];0.86[EUR][1000 genomes]
rs11600640	0.89[CHB][hapmap];0.91[JPT][hapmap];0.88[ASN][1000 genomes]
rs12421913	0.89[CHB][hapmap]
rs2187568	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2276443	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs55955041	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56010007	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56207324	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56386896	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56412430	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56851635	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61897372	0.88[EUR][1000 genomes]
rs61897374	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61897376	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61897380	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61897406	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61897410	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61897411	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61897413	0.93[EUR][1000 genomes]
rs61897414	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61897415	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61897416	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61897419	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7125082	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs7128197	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73494872	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3381903	chr11:75123498-75587233	Bivalent Enhancer Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
2	nsv897923	chr11:75129007-75302855	Active TSS Weak transcription Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases
3	esv993847	chr11:75176894-75187181	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7131225	GDPD5	cis	multi-tissue	Pritchard

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:75144200-75186600	Weak transcription	Gastric	stomach
2	chr11:75145200-75186200	Weak transcription	Primary T cells from cord blood	blood
3	chr11:75145200-75186400	Strong transcription	Fetal Intestine Small	intestine
4	chr11:75147800-75186000	Weak transcription	Primary T helper cells PMA-I stimulated	--
5	chr11:75148200-75186000	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr11:75162800-75185000	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr11:75163800-75186200	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr11:75165200-75187000	Strong transcription	HepG2	liver
9	chr11:75166600-75186800	Weak transcription	Pancreas	Pancrea
10	chr11:75173400-75185000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr11:75173600-75185800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr11:75174600-75186600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr11:75177400-75186800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr11:75178600-75185800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr11:75180200-75185000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr11:75180200-75185200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr11:75180200-75185200	Weak transcription	Liver	Liver
18	chr11:75180200-75186000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr11:75180200-75186600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr11:75180400-75185200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr11:75180400-75185600	Weak transcription	Esophagus	oesophagus
22	chr11:75180400-75185600	Weak transcription	Fetal Lung	lung
23	chr11:75180400-75186000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr11:75180400-75186400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr11:75180400-75186400	Weak transcription	Brain Germinal Matrix	brain
26	chr11:75180400-75186400	Weak transcription	Colon Smooth Muscle	Colon
27	chr11:75180400-75186400	Weak transcription	Osteobl	bone
28	chr11:75180600-75185600	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr11:75180600-75185800	Weak transcription	K562	blood
30	chr11:75180600-75186400	Weak transcription	Right Atrium	heart
31	chr11:75180800-75185600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr11:75181200-75185000	Weak transcription	HUVEC	blood vessel
33	chr11:75181200-75185600	Weak transcription	Right Ventricle	heart
34	chr11:75181600-75186400	Genic enhancers	Placenta	Placenta
35	chr11:75181800-75188800	Enhancers	Fetal Muscle Trunk	muscle
36	chr11:75182400-75192400	Strong transcription	Fetal Intestine Large	intestine
37	chr11:75182600-75185200	Strong transcription	Adipose Nuclei	Adipose
38	chr11:75182600-75187200	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr11:75183200-75185400	Weak transcription	Fetal Kidney	kidney
40	chr11:75183400-75185000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr11:75183600-75185200	Weak transcription	NHLF	lung
42	chr11:75183600-75186400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr11:75183800-75185200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr11:75183800-75186200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr11:75183800-75186400	Weak transcription	HSMM	muscle
46	chr11:75183800-75187000	Weak transcription	NHEK	skin
47	chr11:75184000-75185200	Weak transcription	Monocytes-CD14+_RO01746	blood
48	chr11:75184000-75185400	Weak transcription	Fetal Muscle Leg	muscle
49	chr11:75184000-75185600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr11:75184000-75186600	Weak transcription	Fetal Brain Female	brain

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