Variant report

Variant	rs35501467
Chromosome Location	chr5:142629909-142629910
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:142628145..142630590-chr5:142781755..142785995,6	K562	blood:
2	chr5:142629234..142631315-chr5:142636942..142639138,2	K562	blood:
3	chr5:142592013..142594135-chr5:142628509..142630012,2	K562	blood:
4	chr5:142627694..142631315-chr5:142636071..142640618,4	K562	blood:
5	chr5:142627537..142630194-chr5:142778531..142780745,2	K562	blood:
6	chr5:142626811..142632494-chr5:142781185..142784003,6	K562	blood:
7	chr5:142628455..142630100-chr5:142784495..142786471,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000113580	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10482634	0.84[CEU][hapmap];1.00[JPT][hapmap];0.93[MKK][hapmap];0.85[TSI][hapmap];1.00[YRI][hapmap]
rs10482655	0.84[CEU][hapmap];1.00[JPT][hapmap];0.85[TSI][hapmap];1.00[YRI][hapmap]
rs10482682	1.00[JPT][hapmap]
rs11745958	0.84[CEU][hapmap];1.00[JPT][hapmap];0.82[TSI][hapmap]
rs11750172	0.84[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs17209237	0.90[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs17209251	0.84[CEU][hapmap];0.86[CHB][hapmap];0.81[CHD][hapmap];1.00[JPT][hapmap];0.96[MKK][hapmap];0.85[TSI][hapmap];1.00[YRI][hapmap]
rs17209258	0.84[CEU][hapmap];0.81[CHD][hapmap];1.00[JPT][hapmap];0.96[MKK][hapmap];0.85[TSI][hapmap];1.00[YRI][hapmap]
rs17339455	0.83[CEU][hapmap];1.00[JPT][hapmap];0.85[TSI][hapmap];1.00[YRI][hapmap]
rs17399352	0.84[CEU][hapmap];1.00[JPT][hapmap];0.96[MKK][hapmap];0.85[TSI][hapmap];1.00[YRI][hapmap]
rs2963156	0.84[CEU][hapmap];1.00[JPT][hapmap];0.88[TSI][hapmap]
rs4986593	0.86[CHB][hapmap];0.81[CHD][hapmap];1.00[JPT][hapmap];0.85[TSI][hapmap];1.00[YRI][hapmap]
rs62375461	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9324916	0.84[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1825941	chr5:142568715-142728031	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs35501467	PCDHGC5	cis	cerebellum	SCAN

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:142623200-142632200	Enhancers	K562	blood
2	chr5:142627000-142630000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr5:142628000-142630000	Enhancers	NHDF-Ad	bronchial
4	chr5:142628200-142630200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr5:142628200-142630200	Enhancers	NHEK	skin
6	chr5:142628400-142630000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr5:142628400-142630000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr5:142628400-142630000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr5:142628400-142630000	Enhancers	Psoas Muscle	Psoas
10	chr5:142628400-142630000	Enhancers	Skeletal Muscle Male	skeletal muscle
11	chr5:142628400-142630200	Enhancers	HMEC	breast
12	chr5:142628600-142630000	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr5:142628600-142631600	Enhancers	Fetal Intestine Large	intestine
14	chr5:142629000-142632000	Enhancers	A549	lung
15	chr5:142629000-142632200	Enhancers	GM12878-XiMat	blood
16	chr5:142629200-142630400	Weak transcription	Fetal Intestine Small	intestine
17	chr5:142629200-142630800	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr5:142629200-142631000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr5:142629200-142631400	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr5:142629200-142634200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr5:142629400-142630200	Enhancers	Hela-S3	cervix
22	chr5:142629400-142630400	Weak transcription	Stomach Mucosa	stomach
23	chr5:142629400-142630800	Weak transcription	Duodenum Mucosa	Duodenum
24	chr5:142629600-142631200	Enhancers	Fetal Thymus	thymus
25	chr5:142629600-142641600	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr5:142629800-142640800	Weak transcription	NHLF	lung

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