Variant report

Variant	rs60418129
Chromosome Location	chr19:37463761-37463762
allele	G/T
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	chr19:37463700-37464602	PANC-1	pancreas:	n/a	n/a
2	RAD21	chr19:37463702-37465035	SK-N-SH	brain:	n/a	chr19:37464972-37464982 chr19:37464403-37464415 chr19:37464202-37464214 chr19:37464398-37464417 chr19:37464053-37464063 chr19:37464403-37464413 chr19:37464013-37464026
3	GABPA	chr19:37463645-37464599	MCF-7	breast:	n/a	n/a
4	POLR2A	chr19:37463760-37464649	ProgFib	skin:	n/a	n/a
5	CTCF	chr19:37463699-37465010	SK-N-SH	brain:	n/a	chr19:37464018-37464027 chr19:37464014-37464027
6	CTCF	chr19:37463680-37463830	NHDF-neo	bronchial:	n/a	n/a
7	POLR2A	chr19:37463749-37464511	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:37463031..37465781-chr19:37707432..37709239,2	MCF-7	breast:

Variant related genes	Relation type
ZNF568	TF binding region
ENSG00000188283	Chromatin interaction
ENSG00000245680	Chromatin interaction

Extended variants
information (count: 102 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:84)

rs_ID	r²[population]
rs12459805	0.88[AFR][1000 genomes]
rs12459844	0.88[AFR][1000 genomes]
rs12460285	0.88[AFR][1000 genomes]
rs12460291	0.88[AFR][1000 genomes]
rs12461119	0.88[AFR][1000 genomes]
rs12461358	0.88[AFR][1000 genomes]
rs12461446	0.88[AFR][1000 genomes]
rs12461563	0.88[AFR][1000 genomes]
rs12461933	0.88[AFR][1000 genomes]
rs12463101	0.88[AFR][1000 genomes]
rs12463280	0.88[AFR][1000 genomes]
rs12463328	0.88[AFR][1000 genomes]
rs35692141	0.88[AFR][1000 genomes]
rs56717658	0.88[AFR][1000 genomes]
rs56745069	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57080651	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57231148	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58378903	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58409556	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58948692	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59043209	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59055784	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59197853	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59447056	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59677148	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60096362	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60561021	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60765291	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61166122	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61354972	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73607647	1.00[AMR][1000 genomes]
rs73607662	1.00[AMR][1000 genomes]
rs73607668	1.00[AMR][1000 genomes]
rs73607672	1.00[AMR][1000 genomes]
rs73607677	1.00[AMR][1000 genomes]
rs73607678	1.00[AMR][1000 genomes]
rs73607681	1.00[AMR][1000 genomes]
rs73614169	1.00[AMR][1000 genomes]
rs73614181	1.00[AMR][1000 genomes]
rs73618072	0.88[AFR][1000 genomes]
rs73618081	0.88[AFR][1000 genomes]
rs73618082	0.88[AFR][1000 genomes]
rs73618086	0.88[AFR][1000 genomes]
rs73618088	0.88[AFR][1000 genomes]
rs73618496	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73620004	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73620013	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73620851	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73620899	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73621705	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73621760	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73622714	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73622716	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73623522	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73623524	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73623526	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73623563	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73623564	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73623569	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73625205	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73625207	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73625229	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73625231	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73625236	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73625241	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73625242	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73625243	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73625257	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73625289	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73626561	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73626571	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73626582	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73626588	0.88[AFR][1000 genomes]
rs73626597	0.88[AFR][1000 genomes]
rs73626600	0.88[AFR][1000 genomes]
rs73626748	1.00[AMR][1000 genomes]
rs73626755	1.00[AMR][1000 genomes]
rs73626758	1.00[AMR][1000 genomes]
rs73626762	1.00[AMR][1000 genomes]
rs73626765	1.00[AMR][1000 genomes]
rs73626768	1.00[AMR][1000 genomes]
rs73628736	1.00[AMR][1000 genomes]
rs73628740	1.00[AMR][1000 genomes]
rs73628744	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 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	nsv521605	chr19:37261810-37483444	ZNF genes & repeats Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
7	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
8	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
9	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
10	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
11	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
12	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
13	nsv523848	chr19:37357289-37487632	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
14	nsv833818	chr19:37427808-37602800	Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
15	nsv579463	chr19:37437106-37488055	Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases
16	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
17	esv1828064	chr19:37463270-37467305	ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
18	esv1808096	chr19:37463582-37464848	Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:37463200-37464000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr19:37463200-37464000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr19:37463200-37464000	Flanking Active TSS	Dnd41	blood
4	chr19:37463200-37464200	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr19:37463200-37464200	Active TSS	Colonic Mucosa	Colon
6	chr19:37463200-37464600	Active TSS	Brain Angular Gyrus	brain
7	chr19:37463200-37464600	Active TSS	Brain Anterior Caudate	brain
8	chr19:37463200-37464600	Active TSS	Brain Cingulate Gyrus	brain
9	chr19:37463200-37464600	Active TSS	Placenta Amnion	Placenta Amnion
10	chr19:37463200-37464600	Active TSS	NHEK	skin
11	chr19:37463200-37464800	Active TSS	Fetal Intestine Small	intestine
12	chr19:37463200-37465000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr19:37463200-37465000	Flanking Active TSS	Stomach Smooth Muscle	stomach
14	chr19:37463200-37465200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
15	chr19:37463200-37465200	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
16	chr19:37463400-37463800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
17	chr19:37463400-37463800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr19:37463400-37463800	Enhancers	Primary B cells from peripheral blood	blood
19	chr19:37463400-37463800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
20	chr19:37463400-37463800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
21	chr19:37463400-37463800	Flanking Active TSS	Brain Germinal Matrix	brain
22	chr19:37463400-37463800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
23	chr19:37463400-37463800	Flanking Active TSS	Colon Smooth Muscle	Colon
24	chr19:37463400-37463800	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
25	chr19:37463400-37463800	Flanking Active TSS	Fetal Brain Female	brain
26	chr19:37463400-37463800	Enhancers	Fetal Heart	heart
27	chr19:37463400-37463800	Flanking Active TSS	Fetal Stomach	stomach
28	chr19:37463400-37463800	Flanking Active TSS	Left Ventricle	heart
29	chr19:37463400-37463800	Flanking Active TSS	Pancreas	Pancrea
30	chr19:37463400-37463800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
31	chr19:37463400-37463800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
32	chr19:37463400-37464000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
33	chr19:37463400-37464000	Flanking Active TSS	Adipose Nuclei	Adipose
34	chr19:37463400-37464000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
35	chr19:37463400-37464000	Flanking Active TSS	Fetal Muscle Leg	muscle
36	chr19:37463400-37464000	Flanking Active TSS	Placenta	Placenta
37	chr19:37463400-37464400	Active TSS	Brain Hippocampus Middle	brain
38	chr19:37463400-37464400	ZNF genes & repeats	Fetal Thymus	thymus
39	chr19:37463400-37464400	Active TSS	Rectal Mucosa Donor 31	rectum
40	chr19:37463400-37464600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
41	chr19:37463400-37464600	Active TSS	Primary T cells from cord blood	blood
42	chr19:37463400-37464600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
43	chr19:37463400-37464600	Active TSS	Psoas Muscle	Psoas
44	chr19:37463400-37464600	Active TSS	Rectal Smooth Muscle	rectum
45	chr19:37463400-37464600	Active TSS	Right Atrium	heart
46	chr19:37463400-37464800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr19:37463400-37464800	Active TSS	HSMMtube	muscle
48	chr19:37463400-37465000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr19:37463400-37465000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr19:37463400-37465000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood

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