Variant report

Variant	rs12460043
Chromosome Location	chr19:37621986-37621987
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:37614645..37616647-chr19:37619610..37622245,2	MCF-7	breast:
2	chr19:37616866..37619144-chr19:37620373..37622108,2	K562	blood:

Variant related genes	Relation type
ENSG00000197050	Chromatin interaction

Extended variants
information (count: 103 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:89)

rs_ID	r²[population]
rs1234287	0.91[ASN][1000 genomes]
rs12459805	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12459844	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12460087	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12460098	0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12460285	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12460291	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12460498	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12460556	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12460557	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12460577	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12460798	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12460800	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12460802	0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12460821	0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12461119	0.88[AFR][1000 genomes]
rs12461358	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12461446	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12461501	0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12461563	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12461933	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12462186	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12462205	0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12462276	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12462623	0.91[ASN][1000 genomes]
rs12462629	0.91[ASN][1000 genomes]
rs12463101	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12463103	1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12463125	0.89[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs12463280	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12463328	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs1521096	0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs1521097	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs1521098	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs1521099	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17239026	0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs17304758	0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs3213840	0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs34191527	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs34994400	1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs35314047	0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs35374722	0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs35692141	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs36023046	0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4358055	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56717658	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs57057279	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs57505463	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58017177	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs59044151	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs59397049	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60479919	1.00[ASN][1000 genomes]
rs61056688	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs61371510	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73618072	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs73618081	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs73618082	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs73618086	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs73618088	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs73618094	0.95[AMR][1000 genomes]
rs73618098	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs73620807	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs73620810	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs73620811	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs73620813	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs73620816	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs73620836	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73620839	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73620840	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73620843	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73620851	0.88[AFR][1000 genomes]
rs73620852	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73620854	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73620860	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs73620862	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73620866	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73620870	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73620899	0.88[AFR][1000 genomes]
rs73622714	0.88[AFR][1000 genomes]
rs73622716	0.88[AFR][1000 genomes]
rs73624813	1.00[ASN][1000 genomes]
rs73625272	0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs73626558	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs73626561	0.88[AFR][1000 genomes]
rs73626564	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs73626588	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs73626597	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs73626600	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs8113719	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064851	chr19:36910259-37689721	Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	nsv1065698	chr19:36916796-37690124	Active TSS ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	nsv543999	chr19:36916796-37690124	Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	nsv529817	chr19:36930549-37654062	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
5	nsv918028	chr19:37020645-38014526	Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
6	esv3507199	chr19:37284708-37805639	Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
7	esv3507200	chr19:37284708-37805639	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
8	esv3497360	chr19:37290273-37745365	ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
9	esv3497361	chr19:37290273-37745365	Active TSS ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers 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	25 gene(s)	inside rSNPs	diseases
10	nsv458568	chr19:37325826-37747108	Strong transcription ZNF genes & repeats Genic enhancers Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
11	nsv579461	chr19:37325826-37747108	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
12	nsv911652	chr19:37437106-37774299	Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers 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	17 gene(s)	inside rSNPs	diseases
13	nsv911654	chr19:37487632-37758082	Strong transcription Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
14	nsv2477	chr19:37617348-37662207	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:37613400-37622400	ZNF genes & repeats	Brain Germinal Matrix	brain
2	chr19:37613400-37642200	ZNF genes & repeats	Adipose Nuclei	Adipose
3	chr19:37613400-37642200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
4	chr19:37613600-37622400	ZNF genes & repeats	Dnd41	blood
5	chr19:37613600-37623600	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr19:37613600-37625800	ZNF genes & repeats	Brain Cingulate Gyrus	brain
7	chr19:37613600-37627600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr19:37613600-37628000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
9	chr19:37613600-37628400	ZNF genes & repeats	Brain Substantia Nigra	brain
10	chr19:37613600-37629400	ZNF genes & repeats	Brain Hippocampus Middle	brain
11	chr19:37613600-37629600	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
12	chr19:37613800-37629600	ZNF genes & repeats	Brain Anterior Caudate	brain
13	chr19:37613800-37662200	ZNF genes & repeats	Liver	Liver
14	chr19:37614600-37622400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr19:37614800-37622600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr19:37614800-37624800	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr19:37614800-37626600	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
18	chr19:37614800-37628200	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
19	chr19:37616000-37622000	ZNF genes & repeats	Primary B cells from cord blood	blood
20	chr19:37616000-37622600	ZNF genes & repeats	Psoas Muscle	Psoas
21	chr19:37616000-37629400	ZNF genes & repeats	Duodenum Mucosa	Duodenum
22	chr19:37616200-37622400	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
23	chr19:37616200-37624200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
24	chr19:37616200-37624800	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
25	chr19:37616200-37627400	ZNF genes & repeats	Stomach Smooth Muscle	stomach
26	chr19:37616400-37622600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
27	chr19:37616600-37622000	ZNF genes & repeats	Fetal Muscle Leg	muscle
28	chr19:37616800-37622800	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr19:37616800-37624600	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
30	chr19:37617000-37622600	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr19:37617400-37622600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr19:37617600-37624800	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
33	chr19:37617600-37625000	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
34	chr19:37617800-37624600	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
35	chr19:37617800-37625600	ZNF genes & repeats	Brain Angular Gyrus	brain
36	chr19:37617800-37627800	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
37	chr19:37618000-37622000	ZNF genes & repeats	Fetal Lung	lung
38	chr19:37618000-37622200	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
39	chr19:37618000-37622400	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
40	chr19:37618000-37625200	ZNF genes & repeats	Fetal Brain Female	brain
41	chr19:37618200-37622400	ZNF genes & repeats	Fetal Heart	heart
42	chr19:37620200-37622800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr19:37620800-37622400	ZNF genes & repeats	Rectal Smooth Muscle	rectum
44	chr19:37621000-37622000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
45	chr19:37621000-37622200	ZNF genes & repeats	Aorta	Aorta
46	chr19:37621000-37622200	ZNF genes & repeats	Left Ventricle	heart
47	chr19:37621000-37622600	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
48	chr19:37621000-37624600	ZNF genes & repeats	Fetal Brain Male	brain
49	chr19:37621200-37622200	ZNF genes & repeats	Fetal Kidney	kidney
50	chr19:37621400-37622400	ZNF genes & repeats	Primary T killer memory cells from peripheral blood	blood

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