Variant report

Variant	rs12462268
Chromosome Location	chr19:37167783-37167784
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:37160578..37163087-chr19:37165819..37168377,2	MCF-7	breast:

Extended variants
information (count: 124 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:109)

rs_ID	r²[population]
rs10408063	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10408318	0.97[AFR][1000 genomes]
rs10410939	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10411150	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs10413697	0.90[AFR][1000 genomes]
rs10413876	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10414240	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10417106	0.97[AFR][1000 genomes]
rs10417344	0.97[AFR][1000 genomes]
rs10418271	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10422700	0.97[AFR][1000 genomes]
rs10425382	0.97[AFR][1000 genomes]
rs11880022	1.00[ASN][1000 genomes]
rs11880159	1.00[ASN][1000 genomes]
rs1227559	1.00[ASN][1000 genomes]
rs1227561	1.00[ASN][1000 genomes]
rs12459208	1.00[ASN][1000 genomes]
rs12459218	1.00[ASN][1000 genomes]
rs12459243	1.00[ASN][1000 genomes]
rs12459325	1.00[ASN][1000 genomes]
rs12459377	0.90[ASN][1000 genomes]
rs12459429	1.00[ASN][1000 genomes]
rs12459527	1.00[ASN][1000 genomes]
rs12459808	1.00[ASN][1000 genomes]
rs12459894	0.90[ASN][1000 genomes]
rs12459915	0.98[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12459923	1.00[ASN][1000 genomes]
rs12460049	1.00[ASN][1000 genomes]
rs12460354	1.00[ASN][1000 genomes]
rs12460418	1.00[ASN][1000 genomes]
rs12460420	1.00[ASN][1000 genomes]
rs12460430	1.00[ASN][1000 genomes]
rs12460455	1.00[ASN][1000 genomes]
rs12460482	1.00[ASN][1000 genomes]
rs12460729	1.00[ASN][1000 genomes]
rs12460774	1.00[ASN][1000 genomes]
rs12461023	1.00[ASN][1000 genomes]
rs12461264	1.00[ASN][1000 genomes]
rs12461265	1.00[ASN][1000 genomes]
rs12461280	1.00[ASN][1000 genomes]
rs12461436	1.00[ASN][1000 genomes]
rs12461474	1.00[ASN][1000 genomes]
rs12461707	1.00[ASN][1000 genomes]
rs12461721	1.00[ASN][1000 genomes]
rs12461723	1.00[ASN][1000 genomes]
rs12461738	1.00[ASN][1000 genomes]
rs12461954	1.00[ASN][1000 genomes]
rs12461970	1.00[ASN][1000 genomes]
rs12462037	1.00[ASN][1000 genomes]
rs12462281	1.00[ASN][1000 genomes]
rs12462325	1.00[ASN][1000 genomes]
rs12462454	1.00[ASN][1000 genomes]
rs12462471	0.90[ASN][1000 genomes]
rs12462635	1.00[ASN][1000 genomes]
rs12462921	1.00[ASN][1000 genomes]
rs12463012	0.90[ASN][1000 genomes]
rs12974130	1.00[ASN][1000 genomes]
rs12974446	1.00[ASN][1000 genomes]
rs13345382	0.97[AFR][1000 genomes]
rs1625762	1.00[ASN][1000 genomes]
rs1673083	1.00[ASN][1000 genomes]
rs16971568	1.00[ASN][1000 genomes]
rs16973489	1.00[ASN][1000 genomes]
rs17468285	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1990964	0.90[ASN][1000 genomes]
rs25419	1.00[ASN][1000 genomes]
rs28398875	1.00[ASN][1000 genomes]
rs28418630	0.81[AFR][1000 genomes]
rs28465595	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28472526	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28645577	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28742010	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28818888	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2912407	0.82[AFR][1000 genomes]
rs2967425	0.81[AFR][1000 genomes]
rs2967426	0.87[AFR][1000 genomes]
rs2967428	0.87[AFR][1000 genomes]
rs2967430	0.82[AFR][1000 genomes]
rs34051375	1.00[ASN][1000 genomes]
rs34106502	1.00[ASN][1000 genomes]
rs35621405	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs35706444	1.00[ASN][1000 genomes]
rs3859520	0.90[ASN][1000 genomes]
rs491951	0.90[ASN][1000 genomes]
rs500244	0.90[ASN][1000 genomes]
rs58245911	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58880289	0.97[AFR][1000 genomes]
rs59951429	0.89[AFR][1000 genomes]
rs60268308	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60615280	0.97[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs61750934	1.00[ASN][1000 genomes]
rs6510562	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73607078	0.97[AFR][1000 genomes]
rs73609133	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73609981	0.89[AFR][1000 genomes]
rs73612010	0.93[AFR][1000 genomes]
rs73612013	0.97[AFR][1000 genomes]
rs73612031	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73612039	0.97[AFR][1000 genomes]
rs73612043	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73612047	0.97[AFR][1000 genomes]
rs73612050	0.97[AFR][1000 genomes]
rs73612052	0.97[AFR][1000 genomes]
rs73615692	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73615693	0.92[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs73617803	0.90[AFR][1000 genomes]
rs7508258	1.00[ASN][1000 genomes]
rs8104355	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs8111419	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 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	nsv833817	chr19:36978852-37195695	ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
6	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
7	esv3492171	chr19:37122012-37190210	Weak transcription Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	n/a
8	esv3492172	chr19:37122562-37190060	Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	n/a
9	esv3492173	chr19:37122562-37190060	Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Weak transcription Active TSS Enhancers Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	n/a
10	nsv469794	chr19:37129858-37310257	Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
11	nsv482392	chr19:37129858-37310257	ZNF genes & repeats Weak transcription Strong transcription Active TSS 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	27 gene(s)	inside rSNPs	diseases
12	esv3420176	chr19:37130161-37207917	ZNF genes & repeats Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	n/a
13	nsv1061250	chr19:37134068-37188771	ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	n/a
14	esv34384	chr19:37134068-37330613	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
15	nsv817833	chr19:37146694-37357289	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:37158400-37169000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr19:37158600-37168800	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr19:37158600-37168800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr19:37158600-37169000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr19:37158600-37169000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr19:37158600-37169000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr19:37158600-37172800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr19:37158600-37177200	Weak transcription	Fetal Kidney	kidney
9	chr19:37158600-37177400	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr19:37158600-37177400	Weak transcription	NHDF-Ad	bronchial
11	chr19:37158600-37177800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr19:37159000-37177000	Weak transcription	NHLF	lung
13	chr19:37159200-37168000	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr19:37159200-37177600	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr19:37159400-37177600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr19:37159600-37168800	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr19:37159600-37168800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr19:37159600-37168800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr19:37159600-37168800	Weak transcription	HSMMtube	muscle
20	chr19:37159600-37169000	Weak transcription	Placenta	Placenta
21	chr19:37159600-37176200	Weak transcription	Gastric	stomach
22	chr19:37159600-37177400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr19:37159800-37168800	Weak transcription	Primary B cells from peripheral blood	blood
24	chr19:37160000-37177000	Weak transcription	Fetal Heart	heart
25	chr19:37162800-37168800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr19:37163000-37169000	Weak transcription	Right Ventricle	heart
27	chr19:37163200-37169000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr19:37163200-37177200	Weak transcription	Pancreas	Pancrea
29	chr19:37163400-37169000	Weak transcription	Brain Anterior Caudate	brain
30	chr19:37163400-37171200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr19:37163600-37168800	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr19:37163600-37168800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr19:37163600-37169000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr19:37163800-37169000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr19:37163800-37169000	Weak transcription	Stomach Smooth Muscle	stomach
36	chr19:37164600-37168800	Weak transcription	Brain Angular Gyrus	brain
37	chr19:37164600-37169000	Weak transcription	Left Ventricle	heart
38	chr19:37165000-37177200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr19:37165600-37168800	Weak transcription	Primary T cells from cord blood	blood
40	chr19:37165600-37169000	Weak transcription	Brain Cingulate Gyrus	brain
41	chr19:37165600-37177400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr19:37166400-37170000	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr19:37166600-37169600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr19:37166800-37167800	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
45	chr19:37166800-37168800	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr19:37167200-37167800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr19:37167200-37167800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr19:37167200-37167800	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
49	chr19:37167200-37167800	ZNF genes & repeats	Liver	Liver
50	chr19:37167200-37167800	ZNF genes & repeats	Fetal Muscle Leg	muscle

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