Variant report

Variant	rs12274774
Chromosome Location	chr11:67046501-67046502
allele	A/C
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	POLR2A	chr11:67041841-67058702	HL-60	blood:	n/a	n/a
2	POLR2A	chr11:67046437-67046680	GM12878	blood:	n/a	n/a
3	POLR2A	chr11:67046277-67047106	GM12892	blood:	n/a	n/a
4	MTA3	chr11:67046426-67046806	GM12878	blood:	n/a	n/a
5	POLR2A	chr11:67042905-67049648	GM12892	blood:	n/a	n/a
6	POLR2A	chr11:67044053-67047081	K562	blood:	n/a	n/a
7	POLR2A	chr11:67041711-67058704	HL-60	blood:	n/a	n/a
8	POLR2A	chr11:67044056-67047047	GM12878	blood:	n/a	n/a
9	POLR2A	chr11:67046382-67046899	GM12892	blood:	n/a	n/a
10	POLR2A	chr11:67046383-67046748	GM12891	blood:	n/a	n/a
11	POLR2A	chr11:67046435-67046853	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
ADRBK1	TF binding region

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10791900	0.85[AMR][1000 genomes]
rs10896161	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10896165	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11227687	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs11227689	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap]
rs11227690	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11227696	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap]
rs11227713	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap]
rs11227723	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[TSI][hapmap]
rs11227732	0.84[EUR][1000 genomes]
rs11227740	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11227742	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11227744	0.91[AFR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11227745	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11227746	0.91[AFR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11227750	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11227751	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11227752	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11227755	1.00[JPT][hapmap]
rs11227761	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11227765	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11227768	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11227770	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11227786	0.81[ASN][1000 genomes]
rs11227787	0.81[ASN][1000 genomes]
rs12223898	1.00[ASN][1000 genomes]
rs12271777	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs12273711	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs12282264	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17145414	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap]
rs28604372	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs3730145	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3892143	0.85[ASN][1000 genomes]
rs56132056	0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58100805	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61758503	0.83[EUR][1000 genomes]
rs61758508	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61889551	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61889552	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61891586	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61891588	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61891589	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61891590	0.86[ASN][1000 genomes]
rs61891592	0.83[ASN][1000 genomes]
rs6591234	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.85[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs6591235	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs7111473	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs7127431	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7947663	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs9630209	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531397	chr11:66653381-67465721	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	271 gene(s)	inside rSNPs	diseases
2	nsv933183	chr11:67008447-67160993	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	nsv897796	chr11:67021518-67186000	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
4	nsv897797	chr11:67023040-67293234	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	206 gene(s)	inside rSNPs	diseases
5	nsv897798	chr11:67024534-67065858	Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
6	nsv897799	chr11:67024534-67072623	Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
7	nsv897800	chr11:67024534-67086298	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
8	nsv1043037	chr11:67027193-67357425	Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases
9	nsv468603	chr11:67033076-67164495	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
10	nsv555253	chr11:67033076-67164495	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
11	nsv897801	chr11:67033076-67432479	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	236 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:67037200-67055800	Genic enhancers	Spleen	Spleen
2	chr11:67037800-67046800	Weak transcription	Aorta	Aorta
3	chr11:67038200-67055200	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr11:67038400-67047000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr11:67042400-67046800	Genic enhancers	Sigmoid Colon	Sigmoid Colon
6	chr11:67042400-67048000	Genic enhancers	Lung	lung
7	chr11:67043000-67048000	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr11:67043200-67047000	Weak transcription	Ovary	ovary
9	chr11:67043400-67054800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr11:67043600-67047600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr11:67044200-67053400	Strong transcription	HepG2	liver
12	chr11:67045000-67046600	Enhancers	Left Ventricle	heart
13	chr11:67045000-67047600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr11:67045000-67054600	Weak transcription	Fetal Brain Male	brain
15	chr11:67045000-67054800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr11:67045000-67055200	Weak transcription	Fetal Kidney	kidney
17	chr11:67045200-67046600	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
18	chr11:67045200-67046800	Genic enhancers	Brain Hippocampus Middle	brain
19	chr11:67045200-67048800	Weak transcription	A549	lung
20	chr11:67045200-67054800	Strong transcription	Cortex derived primary cultured neurospheres	brain
21	chr11:67045200-67054800	Strong transcription	Brain Germinal Matrix	brain
22	chr11:67045400-67046600	Flanking Active TSS	Primary T cells from cord blood	blood
23	chr11:67045400-67046600	Genic enhancers	Liver	Liver
24	chr11:67045400-67046600	Enhancers	Rectal Mucosa Donor 31	rectum
25	chr11:67045400-67047400	Genic enhancers	Esophagus	oesophagus
26	chr11:67045400-67048000	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr11:67045400-67054600	Strong transcription	Fetal Brain Female	brain
28	chr11:67045400-67055800	Genic enhancers	Placenta	Placenta
29	chr11:67045600-67046600	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr11:67045600-67046600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr11:67045600-67046600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr11:67045600-67046600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
33	chr11:67045600-67046600	Enhancers	Skeletal Muscle Female	skeletal muscle
34	chr11:67045600-67046600	Weak transcription	Hela-S3	cervix
35	chr11:67045600-67046800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr11:67045600-67046800	Weak transcription	Brain Angular Gyrus	brain
37	chr11:67045600-67047000	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr11:67045600-67047000	Genic enhancers	Colonic Mucosa	Colon
39	chr11:67045600-67047000	Genic enhancers	Colon Smooth Muscle	Colon
40	chr11:67045600-67048000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr11:67045600-67048200	Genic enhancers	Skeletal Muscle Male	skeletal muscle
42	chr11:67045600-67048600	Genic enhancers	Fetal Muscle Leg	muscle
43	chr11:67045600-67049000	Genic enhancers	Fetal Muscle Trunk	muscle
44	chr11:67045600-67049400	Genic enhancers	Primary B cells from peripheral blood	blood
45	chr11:67045600-67049600	Weak transcription	Psoas Muscle	Psoas
46	chr11:67045600-67050600	Weak transcription	NH-A	brain
47	chr11:67045600-67051600	Strong transcription	NHEK	skin
48	chr11:67045600-67052600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr11:67045600-67054200	Strong transcription	Brain Inferior Temporal Lobe	brain
50	chr11:67045600-67054600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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