Variant report

Variant	rs7139494
Chromosome Location	chr13:50098966-50098967
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr13:50098951-50099551	Hela-S3	cervix:	n/a	n/a

Variant related genes	Relation type
PHF11	TF binding region

Extended variants
information (count: 74 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs1046027	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1046028	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1046295	0.84[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1062979	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12146924	0.91[JPT][hapmap]
rs12429813	0.85[CEU][hapmap]
rs1543513	0.83[CEU][hapmap]
rs17073051	0.96[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1925742	0.95[JPT][hapmap]
rs2038638	0.81[CEU][hapmap]
rs2038881	0.86[JPT][hapmap]
rs2057414	0.84[CEU][hapmap]
rs2077848	0.80[CEU][hapmap]
rs2274276	0.82[EUR][1000 genomes]
rs2980	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2981	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3033	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3186012	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3186013	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3186024	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs36075670	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3765526	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3829366	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4340215	1.00[CEU][hapmap];0.83[YRI][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4430650	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs4941643	0.88[CEU][hapmap]
rs4942830	0.80[CEU][hapmap]
rs4942833	1.00[CEU][hapmap];0.80[EUR][1000 genomes]
rs4942836	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4942838	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4942839	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4942840	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4942843	0.95[JPT][hapmap]
rs6561533	0.96[CEU][hapmap];0.91[CHB][hapmap];0.83[JPT][hapmap];1.00[YRI][hapmap]
rs6561534	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6561538	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs67307832	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs721457	0.81[CEU][hapmap]
rs7317772	0.83[CEU][hapmap]
rs7317982	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7322077	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7322908	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs7323493	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7323716	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7331262	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7331330	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7333969	0.90[JPT][hapmap]
rs7337718	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7339167	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7988427	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7989504	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7990988	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7991031	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7995283	0.80[CEU][hapmap]
rs7995684	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7996994	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7997737	0.84[CEU][hapmap]
rs9316454	0.84[CEU][hapmap]
rs942870	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9526565	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9526566	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9526567	0.96[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9526568	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9535247	0.84[CEU][hapmap]
rs9535254	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9535255	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9535256	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9535257	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9535258	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[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	nsv1047311	chr13:49895019-50224227	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv916093	chr13:50050919-50290245	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1036135	chr13:50071310-50183103	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv541770	chr13:50071310-50183103	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	nsv826637	chr13:50098210-50099892	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7139494	PHF11	Cis_1M	lymphoblastoid	RTeQTL
rs7139494	CAB39L	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:50075000-50102400	Weak transcription	NH-A	brain
2	chr13:50075000-50143800	Weak transcription	Small Intestine	intestine
3	chr13:50077600-50114000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr13:50080000-50107000	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr13:50080200-50104600	Strong transcription	Primary T helper cells fromperipheralblood	blood
6	chr13:50080600-50101000	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr13:50080600-50104600	Strong transcription	Primary T cells fromperipheralblood	blood
8	chr13:50083600-50103600	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr13:50083800-50099600	Strong transcription	Primary T cells from cord blood	blood
10	chr13:50084000-50104800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr13:50084800-50104200	Strong transcription	GM12878-XiMat	blood
12	chr13:50085000-50099600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr13:50085400-50104800	Strong transcription	Primary T helper cells PMA-I stimulated	--
14	chr13:50085800-50099000	Weak transcription	Hela-S3	cervix
15	chr13:50086400-50113600	Weak transcription	Brain Angular Gyrus	brain
16	chr13:50086600-50101600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr13:50086600-50103200	Strong transcription	Primary neutrophils fromperipheralblood	blood
18	chr13:50086600-50106200	Strong transcription	Fetal Thymus	thymus
19	chr13:50086600-50108800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr13:50086600-50114200	Weak transcription	Fetal Brain Female	brain
21	chr13:50086800-50101600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr13:50087400-50099400	Strong transcription	Liver	Liver
23	chr13:50087400-50099400	Strong transcription	Placenta	Placenta
24	chr13:50087800-50103600	Strong transcription	Rectal Mucosa Donor 29	rectum
25	chr13:50088200-50113600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr13:50088400-50151000	Weak transcription	Psoas Muscle	Psoas
27	chr13:50088600-50134200	Weak transcription	Stomach Mucosa	stomach
28	chr13:50089200-50107400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr13:50089400-50114200	Weak transcription	Colon Smooth Muscle	Colon
30	chr13:50089800-50101200	Weak transcription	NHEK	skin
31	chr13:50090000-50101200	Weak transcription	Left Ventricle	heart
32	chr13:50090000-50113600	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr13:50090000-50122800	Weak transcription	Ovary	ovary
34	chr13:50090000-50123600	Weak transcription	Esophagus	oesophagus
35	chr13:50090200-50101000	Weak transcription	Brain Anterior Caudate	brain
36	chr13:50090200-50101200	Weak transcription	Brain Substantia Nigra	brain
37	chr13:50090200-50114200	Weak transcription	Aorta	Aorta
38	chr13:50090200-50117800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr13:50090400-50106600	Weak transcription	Rectal Smooth Muscle	rectum
40	chr13:50090400-50113400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
41	chr13:50090400-50114200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr13:50090800-50104200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr13:50091000-50104000	Weak transcription	Fetal Muscle Trunk	muscle
44	chr13:50091000-50114200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr13:50091400-50138800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr13:50091800-50107600	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr13:50092000-50101200	Strong transcription	NHDF-Ad	bronchial
48	chr13:50092000-50102200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr13:50092000-50108000	Weak transcription	Brain Cingulate Gyrus	brain
50	chr13:50092000-50112200	Weak transcription	Cortex derived primary cultured neurospheres	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links