Variant report

Variant	rs2067912
Chromosome Location	chr11:73611349-73611350
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10501412	0.86[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap]
rs10898947	0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[ASN][1000 genomes]
rs10898949	0.86[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs11235907	0.84[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];1.00[YRI][hapmap]
rs11235908	0.84[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs11235920	1.00[YRI][hapmap]
rs11235922	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs11235925	0.86[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs11235927	0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs11235931	0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs11235933	1.00[JPT][hapmap];0.85[LWK][hapmap];0.81[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs11235934	0.86[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs11235937	0.86[CHB][hapmap];0.87[CHD][hapmap]
rs11235939	0.81[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs11235947	0.86[ASN][1000 genomes]
rs12365080	0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs12420099	0.81[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs12420751	0.81[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs12421077	0.81[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs17132369	0.84[CHB][hapmap];0.84[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap]
rs17132397	0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs17132403	0.86[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs17132411	0.86[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs1869433	0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs3741137	0.83[ASN][1000 genomes]
rs4537782	0.81[ASN][1000 genomes]
rs4944032	0.84[CHD][hapmap]
rs4944034	0.84[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs4944869	0.86[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs60812833	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60863026	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6592531	0.84[CHD][hapmap]
rs7105309	0.87[CHD][hapmap]
rs7119528	0.84[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs72982926	0.83[ASN][1000 genomes]
rs72982937	0.81[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs7939193	0.87[CHD][hapmap]
rs7942963	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[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	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	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
4	nsv1038105	chr11:73552023-73673836	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv1035977	chr11:73581224-73617653	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs2067912	FANCB	cis	Liver	GTEx
rs2067912	PAAF1	cis	multi-tissue	Pritchard
rs2067912	ENSG00000175575	cis	multi-tissue	Pritchard
rs2067912	FANCB	trans	multi-tissue	Pritchard
rs2067912	UCP2	cis	brain	seeQTL
rs2067912	PAAF1	cis	lymphoblastoid	seeQTL
rs2067912	WDR71	cis	multi-tissue	Pritchard
rs2067912	PAAF1	cis	Liver	GTEx

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73588800-73622000	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr11:73588800-73623000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr11:73588800-73625200	Weak transcription	Small Intestine	intestine
4	chr11:73588800-73630000	Weak transcription	Colonic Mucosa	Colon
5	chr11:73588800-73630200	Weak transcription	HUVEC	blood vessel
6	chr11:73589000-73630200	Weak transcription	Fetal Brain Male	brain
7	chr11:73589400-73629200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr11:73591600-73618000	Weak transcription	K562	blood
9	chr11:73596000-73640800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr11:73600400-73618000	Weak transcription	Fetal Heart	heart
11	chr11:73601000-73640400	Weak transcription	Stomach Mucosa	stomach
12	chr11:73601600-73630000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr11:73602000-73622800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr11:73602000-73624000	Weak transcription	Psoas Muscle	Psoas
15	chr11:73602400-73644800	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr11:73603000-73613200	Weak transcription	Brain Germinal Matrix	brain
17	chr11:73603400-73612800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr11:73603400-73612800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr11:73604400-73623400	Weak transcription	Fetal Kidney	kidney
20	chr11:73605200-73618400	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr11:73606600-73630000	Weak transcription	A549	lung
22	chr11:73606800-73638200	Weak transcription	NHLF	lung
23	chr11:73607200-73628400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr11:73609600-73611600	Strong transcription	GM12878-XiMat	blood
25	chr11:73609600-73611800	Strong transcription	Fetal Brain Female	brain
26	chr11:73609600-73613600	Strong transcription	Left Ventricle	heart
27	chr11:73609600-73613800	Strong transcription	HUES64 Cell Line	embryonic stem cell
28	chr11:73609600-73613800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr11:73609600-73613800	Strong transcription	Skeletal Muscle Female	skeletal muscle
30	chr11:73609600-73614200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr11:73609600-73614200	Strong transcription	Fetal Muscle Leg	muscle
32	chr11:73609600-73614400	Strong transcription	Primary B cells from peripheral blood	blood
33	chr11:73609600-73614400	Strong transcription	Fetal Muscle Trunk	muscle
34	chr11:73609600-73614600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr11:73609600-73614600	Strong transcription	Primary T helper cells PMA-I stimulated	--
36	chr11:73609800-73612000	Strong transcription	Brain Cingulate Gyrus	brain
37	chr11:73609800-73612600	Strong transcription	HSMMtube	muscle
38	chr11:73609800-73613600	Strong transcription	Rectal Mucosa Donor 29	rectum
39	chr11:73609800-73613800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr11:73609800-73614200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr11:73609800-73614400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
42	chr11:73609800-73614400	Strong transcription	Liver	Liver
43	chr11:73609800-73614400	Strong transcription	Monocytes-CD14+_RO01746	blood
44	chr11:73609800-73614600	Strong transcription	Primary B cells from cord blood	blood
45	chr11:73610000-73611600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr11:73610000-73611600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
47	chr11:73610000-73611600	Strong transcription	Primary T killer memory cells from peripheral blood	blood
48	chr11:73610000-73611600	Strong transcription	Brain Anterior Caudate	brain
49	chr11:73610000-73611600	Strong transcription	Colon Smooth Muscle	Colon
50	chr11:73610000-73611600	Strong transcription	Stomach Smooth Muscle	stomach

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