Variant report

Variant	rs7634476
Chromosome Location	chr3:136398387-136398388
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1017882	0.83[ASN][1000 genomes]
rs10935186	0.90[ASN][1000 genomes]
rs11919030	0.84[ASN][1000 genomes]
rs34438032	0.90[ASN][1000 genomes]
rs4038587	0.89[ASN][1000 genomes]
rs4408829	0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4521165	0.89[ASN][1000 genomes]
rs6439649	0.89[ASN][1000 genomes]
rs6791142	0.89[ASN][1000 genomes]
rs6808312	0.89[ASN][1000 genomes]
rs7618518	0.89[ASN][1000 genomes]
rs7618871	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7637129	0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs940174	0.81[ASN][1000 genomes]
rs9836231	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7634476	PCCB	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:136381800-136410800	Weak transcription	Psoas Muscle	Psoas
2	chr3:136385200-136398400	Weak transcription	Fetal Intestine Large	intestine
3	chr3:136386400-136412800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr3:136387200-136412400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr3:136390200-136413000	Weak transcription	Pancreas	Pancrea
6	chr3:136390600-136412000	Weak transcription	Thymus	Thymus
7	chr3:136390800-136399800	Weak transcription	Fetal Intestine Small	intestine
8	chr3:136390800-136407200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr3:136390800-136447800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr3:136393800-136408400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr3:136394200-136409800	Weak transcription	Primary hematopoietic stem cells	blood
12	chr3:136395000-136398600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr3:136395000-136404800	Weak transcription	Fetal Heart	heart
14	chr3:136395000-136407600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr3:136395000-136410200	Weak transcription	Small Intestine	intestine
16	chr3:136395000-136418200	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr3:136395400-136407600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr3:136396000-136404800	Weak transcription	Left Ventricle	heart
19	chr3:136396600-136400000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr3:136396600-136400000	Weak transcription	Colon Smooth Muscle	Colon
21	chr3:136396600-136400200	Weak transcription	Primary T helper cells PMA-I stimulated	--
22	chr3:136396600-136407400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr3:136396600-136411800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr3:136397400-136398400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr3:136397800-136398600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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