Variant report

Variant	rs60615280
Chromosome Location	chr19:37235564-37235565
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	chr19:37230647..37232496-chr19:37235313..37237662,2	K562	blood:

Extended variants
information (count: 122 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:105)

rs_ID	r²[population]
rs10408063	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10408318	0.94[AFR][1000 genomes]
rs10410939	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10411150	0.95[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs10413697	0.87[AFR][1000 genomes]
rs10413876	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10414240	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10417106	0.94[AFR][1000 genomes]
rs10417344	0.94[AFR][1000 genomes]
rs10418271	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10422700	0.94[AFR][1000 genomes]
rs10425382	0.94[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	0.95[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]
rs12462268	0.97[AFR][1000 genomes];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	0.94[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	0.97[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]
rs28465595	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28472526	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28645577	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28742010	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28818888	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2967426	0.84[AFR][1000 genomes]
rs2967428	0.84[AFR][1000 genomes]
rs34051375	1.00[ASN][1000 genomes]
rs34106502	1.00[ASN][1000 genomes]
rs35621405	0.90[AFR][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	1.00[ASN][1000 genomes]
rs58880289	0.94[AFR][1000 genomes]
rs59951429	0.86[AFR][1000 genomes]
rs60268308	0.95[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs61750934	1.00[ASN][1000 genomes]
rs6510562	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73607078	0.94[AFR][1000 genomes]
rs73609133	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73609981	0.86[AFR][1000 genomes]
rs73612010	0.90[AFR][1000 genomes]
rs73612013	0.94[AFR][1000 genomes]
rs73612031	1.00[ASN][1000 genomes]
rs73612039	0.94[AFR][1000 genomes]
rs73612043	0.97[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73612047	0.94[AFR][1000 genomes]
rs73612050	0.94[AFR][1000 genomes]
rs73612052	0.94[AFR][1000 genomes]
rs73615692	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73615693	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs73617803	0.87[AFR][1000 genomes]
rs7508258	1.00[ASN][1000 genomes]
rs8104355	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs8111419	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 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	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
7	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
8	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
9	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
10	nsv470139	chr19:37171201-37264190	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription 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	20 gene(s)	inside rSNPs	diseases
11	esv3517005	chr19:37193712-37364110	Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
12	esv3517004	chr19:37193762-37363960	ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
13	esv3517006	chr19:37193762-37363960	Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
14	nsv911649	chr19:37203249-37257192	ZNF genes & repeats Strong transcription Weak transcription Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
15	esv3508979	chr19:37208161-37252433	ZNF genes & repeats Weak transcription Strong transcription Active TSS	Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
16	esv3508980	chr19:37208161-37252433	ZNF genes & repeats Weak transcription Strong transcription Active TSS	Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
17	esv3353886	chr19:37220161-37248967	ZNF genes & repeats Weak transcription Strong transcription Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:37194000-37254000	ZNF genes & repeats	Adipose Nuclei	Adipose
2	chr19:37194400-37253800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr19:37194600-37258800	ZNF genes & repeats	Liver	Liver
4	chr19:37220200-37253800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
5	chr19:37230800-37254000	ZNF genes & repeats	Left Ventricle	heart
6	chr19:37231000-37254000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
7	chr19:37231600-37237600	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
8	chr19:37234000-37245200	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
9	chr19:37234000-37246200	ZNF genes & repeats	Brain Anterior Caudate	brain
10	chr19:37234000-37254400	ZNF genes & repeats	Duodenum Mucosa	Duodenum
11	chr19:37234000-37262400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr19:37234800-37236600	Weak transcription	Fetal Heart	heart
13	chr19:37234800-37236600	Weak transcription	HSMM	muscle
14	chr19:37234800-37242600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr19:37235000-37253200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr19:37235000-37253800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
17	chr19:37235000-37256200	ZNF genes & repeats	Dnd41	blood
18	chr19:37235000-37257800	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr19:37235000-37261200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr19:37235200-37235600	ZNF genes & repeats	Pancreas	Pancrea
21	chr19:37235200-37235800	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
22	chr19:37235200-37237000	ZNF genes & repeats	Lung	lung
23	chr19:37235200-37237800	ZNF genes & repeats	Psoas Muscle	Psoas
24	chr19:37235200-37239600	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
25	chr19:37235200-37242800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr19:37235200-37248400	ZNF genes & repeats	Fetal Muscle Trunk	muscle
27	chr19:37235200-37252200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
28	chr19:37235200-37254200	ZNF genes & repeats	Fetal Brain Female	brain
29	chr19:37235200-37256000	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr19:37235200-37256200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr19:37235200-37261600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr19:37235200-37262200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
33	chr19:37235200-37262400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr19:37235400-37235800	Strong transcription	HSMMtube	muscle
35	chr19:37235400-37236400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr19:37235400-37242200	ZNF genes & repeats	Brain Germinal Matrix	brain
37	chr19:37235400-37242400	ZNF genes & repeats	Brain Hippocampus Middle	brain
38	chr19:37235400-37242600	ZNF genes & repeats	Aorta	Aorta
39	chr19:37235400-37243800	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
40	chr19:37235400-37244000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr19:37235400-37244800	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr19:37235400-37256200	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr19:37235400-37256400	ZNF genes & repeats	Fetal Lung	lung

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