Variant report

Variant	rs72982937
Chromosome Location	chr11:73596509-73596510
allele	A/G
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	chr11:73596448-73596635	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:73587488..73590396-chr11:73595163..73597754,3	MCF-7	breast:
2	chr11:73586195..73589455-chr11:73595184..73599458,5	K562	blood:

Variant related genes	Relation type
PAAF1	TF binding region
ENSG00000181924	Chromatin interaction
ENSG00000175575	Chromatin interaction

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs1043234	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10501412	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10898943	0.87[AMR][1000 genomes]
rs10898947	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10898949	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11235882	0.87[AMR][1000 genomes]
rs11235885	0.84[AMR][1000 genomes]
rs11235886	0.87[AMR][1000 genomes]
rs11235888	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11235898	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11235905	0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11235907	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11235908	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11235910	0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11235913	0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11235914	0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11235915	0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11235920	0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs11235922	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11235925	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11235927	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11235931	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11235933	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11235934	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11235937	0.85[ASN][1000 genomes]
rs11235939	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11235947	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12365044	0.87[AMR][1000 genomes]
rs12365080	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12420099	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12420751	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12421077	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12421900	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17132369	0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs17132397	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17132403	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17132411	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1814547	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1869433	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2067912	0.81[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs3211165	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs3741137	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4537782	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4944033	0.87[AMR][1000 genomes]
rs4944034	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4944862	0.87[AMR][1000 genomes]
rs4944868	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4944869	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55910552	0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs58862453	0.87[AMR][1000 genomes]
rs60020777	0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs60074535	0.87[AMR][1000 genomes]
rs60239378	0.87[AMR][1000 genomes]
rs60812833	0.86[ASN][1000 genomes]
rs66610247	0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs66626689	0.87[AMR][1000 genomes]
rs7119528	0.87[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs71464090	0.85[ASN][1000 genomes]
rs72982926	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72989228	0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7929705	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7939193	0.87[AMR][1000 genomes]
rs7942963	0.81[AFR][1000 genomes];0.86[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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73588600-73599400	Weak transcription	Left Ventricle	heart
2	chr11:73588600-73610200	Weak transcription	Gastric	stomach
3	chr11:73588600-73610200	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr11:73588600-73611200	Weak transcription	Aorta	Aorta
5	chr11:73588800-73597000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr11:73588800-73597800	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr11:73588800-73598000	Weak transcription	Primary B cells from peripheral blood	blood
8	chr11:73588800-73598200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr11:73588800-73598400	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr11:73588800-73598400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr11:73588800-73598400	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr11:73588800-73599400	Weak transcription	Fetal Heart	heart
13	chr11:73588800-73599400	Weak transcription	Psoas Muscle	Psoas
14	chr11:73588800-73599400	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr11:73588800-73599400	Weak transcription	HSMMtube	muscle
16	chr11:73588800-73599800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr11:73588800-73599800	Weak transcription	Colon Smooth Muscle	Colon
18	chr11:73588800-73599800	Weak transcription	NHLF	lung
19	chr11:73588800-73600000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr11:73588800-73600000	Weak transcription	HMEC	breast
21	chr11:73588800-73600000	Weak transcription	NHDF-Ad	bronchial
22	chr11:73588800-73600200	Weak transcription	Brain Angular Gyrus	brain
23	chr11:73588800-73600200	Weak transcription	NH-A	brain
24	chr11:73588800-73600600	Weak transcription	Primary neutrophils fromperipheralblood	blood
25	chr11:73588800-73600800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr11:73588800-73604200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr11:73588800-73604800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr11:73588800-73606200	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr11:73588800-73607000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr11:73588800-73610200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr11:73588800-73610600	Weak transcription	Spleen	Spleen
32	chr11:73588800-73610800	Weak transcription	Lung	lung
33	chr11:73588800-73610800	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr11:73588800-73611200	Weak transcription	Right Ventricle	heart
35	chr11:73588800-73622000	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr11:73588800-73623000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr11:73588800-73625200	Weak transcription	Small Intestine	intestine
38	chr11:73588800-73630000	Weak transcription	Colonic Mucosa	Colon
39	chr11:73588800-73630200	Weak transcription	HUVEC	blood vessel
40	chr11:73589000-73598000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr11:73589000-73598400	Weak transcription	Adipose Nuclei	Adipose
42	chr11:73589000-73599400	Weak transcription	Fetal Thymus	thymus
43	chr11:73589000-73599400	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr11:73589000-73600200	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr11:73589000-73602600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr11:73589000-73606000	Weak transcription	A549	lung
47	chr11:73589000-73610000	Weak transcription	Rectal Smooth Muscle	rectum
48	chr11:73589000-73610200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr11:73589000-73610200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr11:73589000-73630200	Weak transcription	Fetal Brain Male	brain

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