Variant report

Variant	rs7637129
Chromosome Location	chr3:136402293-136402294
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs1017882	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10935185	0.84[AMR][1000 genomes]
rs10935186	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11919030	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12163529	0.86[AMR][1000 genomes]
rs1280624	0.80[EUR][1000 genomes]
rs1681817	0.82[EUR][1000 genomes]
rs34438032	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35874192	0.81[EUR][1000 genomes]
rs4038587	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4408829	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4521165	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4630889	0.81[AMR][1000 genomes]
rs4678436	0.81[ASN][1000 genomes]
rs55970317	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6439649	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6764567	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6791142	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6802702	0.81[EUR][1000 genomes]
rs6808312	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73228043	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7427564	0.84[AMR][1000 genomes]
rs7432375	0.82[AMR][1000 genomes]
rs7616204	0.83[EUR][1000 genomes]
rs7618518	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7618871	0.99[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7634476	0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs900818	0.82[EUR][1000 genomes]
rs940174	0.84[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs9825700	0.80[EUR][1000 genomes]
rs9836231	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv460861	chr3:136222954-136425600	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv591851	chr3:136222954-136425600	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv1008866	chr3:136364511-136427790	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv877529	chr3:136364511-136487559	ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
5	esv1010377	chr3:136402158-136407687	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7637129	PCCB	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:136381800-136410800	Weak transcription	Psoas Muscle	Psoas
2	chr3:136386400-136412800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr3:136387200-136412400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr3:136390200-136413000	Weak transcription	Pancreas	Pancrea
5	chr3:136390600-136412000	Weak transcription	Thymus	Thymus
6	chr3:136390800-136407200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr3:136390800-136447800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr3:136393800-136408400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr3:136394200-136409800	Weak transcription	Primary hematopoietic stem cells	blood
10	chr3:136395000-136404800	Weak transcription	Fetal Heart	heart
11	chr3:136395000-136407600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr3:136395000-136410200	Weak transcription	Small Intestine	intestine
13	chr3:136395000-136418200	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr3:136395400-136407600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr3:136396000-136404800	Weak transcription	Left Ventricle	heart
16	chr3:136396600-136407400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr3:136396600-136411800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr3:136398600-136410200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr3:136400600-136412000	Weak transcription	Primary B cells from cord blood	blood
20	chr3:136400800-136407400	Weak transcription	Colon Smooth Muscle	Colon
21	chr3:136401000-136403400	Weak transcription	Fetal Intestine Small	intestine
22	chr3:136402000-136402400	Enhancers	Primary monocytes fromperipheralblood	blood

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