Variant report

Variant	rs868667
Chromosome Location	chr11:73462383-73462384
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:73458899..73465006-chr11:73467540..73472378,9	K562	blood:
2	chr11:73461170..73462762-chr11:73468123..73470222,2	MCF-7	breast:
3	chr11:73460588..73463115-chr11:73499675..73501520,2	MCF-7	breast:
4	chr11:73458119..73460302-chr11:73461277..73464181,2	K562	blood:
5	chr11:73459700..73464671-chr11:73465982..73472131,6	K562	blood:
6	chr11:73421710..73424009-chr11:73461398..73464221,2	K562	blood:

Variant related genes	Relation type
ENSG00000256034	Chromatin interaction
ENSG00000175582	Chromatin interaction

Extended variants
information (count: 80 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs10751229	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10793065	0.85[CEU][hapmap];0.83[CHB][hapmap];0.91[JPT][hapmap]
rs10793066	0.92[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.81[YRI][hapmap];0.82[AFR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10793067	0.92[ASW][hapmap];0.86[CHB][hapmap];0.91[JPT][hapmap];0.93[LWK][hapmap];0.87[MEX][hapmap];0.87[YRI][hapmap]
rs10898931	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10898935	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.83[EUR][1000 genomes]
rs10898936	0.83[EUR][1000 genomes]
rs10898938	0.87[TSI][hapmap];1.00[YRI][hapmap]
rs10898946	0.83[AMR][1000 genomes]
rs11235861	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11235862	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11235876	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11235883	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11235884	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11602887	0.82[AFR][1000 genomes];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12361691	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12420357	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.94[YRI][hapmap];0.83[EUR][1000 genomes]
rs12788426	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1404976	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1525749	0.85[CEU][hapmap];0.89[GIH][hapmap];0.83[JPT][hapmap];0.83[TSI][hapmap]
rs1614987	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1632159	0.89[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.81[YRI][hapmap];0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1670537	1.00[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.85[LWK][hapmap];0.95[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1670540	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1670543	0.81[CEU][hapmap];0.86[CHB][hapmap];0.93[GIH][hapmap];0.95[JPT][hapmap];0.91[MEX][hapmap];0.93[TSI][hapmap]
rs1670549	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1670557	1.00[ASW][hapmap];0.89[CEU][hapmap];0.86[CHB][hapmap];0.86[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];0.87[MEX][hapmap];0.95[TSI][hapmap]
rs1670559	0.81[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs1670564	0.92[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1670565	0.91[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1723833	0.83[AMR][1000 genomes]
rs1723835	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1723843	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1723848	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1792156	1.00[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.85[LWK][hapmap];0.95[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1792160	0.92[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1792161	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1792165	0.86[CHB][hapmap];0.84[CHD][hapmap]
rs1792166	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1792174	1.00[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1792176	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1792180	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1792183	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1792184	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1792187	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1792193	0.86[CHB][hapmap];0.84[CHD][hapmap]
rs1792198	0.92[ASW][hapmap];0.81[CEU][hapmap];0.86[CHB][hapmap];0.93[GIH][hapmap];0.95[JPT][hapmap];0.93[LWK][hapmap];0.91[MEX][hapmap];0.93[TSI][hapmap];0.87[YRI][hapmap]
rs2008734	0.85[CEU][hapmap]
rs2140893	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2367187	0.82[EUR][1000 genomes]
rs2462621	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2511261	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2511270	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2511271	0.85[ASN][1000 genomes]
rs2511272	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2512625	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2512628	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2512629	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2515093	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2886816	0.86[AFR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3817514	0.85[CEU][hapmap];0.83[JPT][hapmap]
rs3862797	0.84[CEU][hapmap];0.83[JPT][hapmap]
rs4471449	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4514449	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4548647	0.83[AMR][1000 genomes]
rs4558190	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6592533	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7104603	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7119055	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7925514	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7933372	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7938731	0.86[AFR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7940132	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9705336	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530624	chr11:73114283-73646329	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv492091	chr11:73285970-73844424	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
3	nsv1045149	chr11:73314565-73581908	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
4	nsv530641	chr11:73358393-73638725	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
5	nsv897912	chr11:73436008-73477045	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
6	esv3426251	chr11:73461503-73538032	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs868667	PAAF1	cis	lymphoblastoid	seeQTL
rs868667	MRPL48	cis	multi-tissue	Pritchard
rs868667	MRPL48	cis	cerebellum	SCAN
rs868667	MRPL48	cis	lymphoblastoid	seeQTL
rs868667	MRPL48	Cis_1M	lymphoblastoid	RTeQTL
rs868667	PLEKHB1	cis	parietal	SCAN
rs868667	RNF121	cis	cerebellum	SCAN

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73413400-73470800	Weak transcription	Esophagus	oesophagus
2	chr11:73415000-73470200	Weak transcription	Aorta	Aorta
3	chr11:73417200-73469600	Weak transcription	Fetal Kidney	kidney
4	chr11:73418400-73463200	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr11:73428400-73469800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr11:73430600-73462800	Weak transcription	HMEC	breast
7	chr11:73430600-73468800	Weak transcription	NHLF	lung
8	chr11:73430800-73470600	Weak transcription	Fetal Muscle Trunk	muscle
9	chr11:73432000-73465200	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr11:73432000-73465200	Weak transcription	NHEK	skin
11	chr11:73437000-73469400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr11:73437600-73468600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr11:73441200-73462800	Weak transcription	Fetal Thymus	thymus
14	chr11:73441200-73464000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr11:73441200-73468600	Weak transcription	Dnd41	blood
16	chr11:73441200-73470000	Weak transcription	Stomach Smooth Muscle	stomach
17	chr11:73441800-73462600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr11:73442200-73469600	Weak transcription	HSMM	muscle
19	chr11:73442400-73469800	Weak transcription	Primary B cells from cord blood	blood
20	chr11:73446400-73468400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr11:73446400-73468600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr11:73446600-73468800	Weak transcription	NHDF-Ad	bronchial
23	chr11:73446800-73462600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr11:73446800-73468400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr11:73447000-73462600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr11:73447000-73463800	Weak transcription	NH-A	brain
27	chr11:73447800-73463200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr11:73448200-73462400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr11:73448200-73468600	Weak transcription	GM12878-XiMat	blood
30	chr11:73448800-73462400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr11:73448800-73462600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr11:73448800-73462600	Weak transcription	Primary T cells from cord blood	blood
33	chr11:73448800-73462800	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr11:73448800-73468800	Weak transcription	Fetal Brain Female	brain
35	chr11:73449000-73464800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr11:73449400-73468400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr11:73449600-73469600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr11:73450000-73463200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr11:73450000-73463200	Weak transcription	Fetal Muscle Leg	muscle
40	chr11:73451400-73468800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr11:73451600-73468600	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr11:73454800-73462800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr11:73454800-73462800	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr11:73454800-73465400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr11:73455200-73465000	Weak transcription	Stomach Mucosa	stomach
46	chr11:73456400-73469000	Weak transcription	Colon Smooth Muscle	Colon
47	chr11:73457000-73467600	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr11:73457600-73462600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr11:73458200-73462800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
50	chr11:73458200-73463200	Weak transcription	Left Ventricle	heart

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