Variant report

Variant	rs7016061
Chromosome Location	chr8:130525809-130525810
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	chr8:130511733..130514870-chr8:130523841..130528014,4	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10101476	0.89[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.81[TSI][hapmap];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10106330	0.93[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.87[TSI][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11774511	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11782225	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11786408	0.88[ASW][hapmap];0.93[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];0.87[MEX][hapmap];0.87[MKK][hapmap];0.81[TSI][hapmap];0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12545943	0.93[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12675978	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1961510	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55977190	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6470735	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6470738	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs67184710	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs67751243	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6985031	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6996139	0.89[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7000021	0.93[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.81[TSI][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7011623	1.00[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7831581	0.89[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7835768	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7839288	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7839408	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7016061	PHF20L1	cis	cerebellum	SCAN

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:130521200-130526600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr8:130521400-130526200	Weak transcription	NH-A	brain
3	chr8:130521400-130526400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr8:130521400-130526400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr8:130521400-130526400	Weak transcription	HSMM	muscle
6	chr8:130521400-130526400	Weak transcription	Osteobl	bone
7	chr8:130521400-130526600	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr8:130522200-130526000	Weak transcription	NHEK	skin
9	chr8:130522200-130526200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr8:130522400-130526200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr8:130523000-130526000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr8:130523000-130526200	Weak transcription	HMEC	breast
13	chr8:130523800-130527000	Enhancers	Fetal Intestine Small	intestine
14	chr8:130523800-130528000	Enhancers	Fetal Intestine Large	intestine
15	chr8:130524200-130526200	Weak transcription	Fetal Heart	heart
16	chr8:130524200-130526400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr8:130524200-130527600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr8:130524600-130526200	Strong transcription	K562	blood
19	chr8:130524600-130526400	Weak transcription	Dnd41	blood
20	chr8:130525400-130527000	Enhancers	H1 Cell Line	embryonic stem cell
21	chr8:130525400-130527600	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr8:130525400-130527600	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr8:130525400-130528800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr8:130525600-130526200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr8:130525600-130527000	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr8:130525600-130527400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr8:130525800-130527400	Enhancers	iPS-18 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links