Variant report

Variant	rs73625241
Chromosome Location	chr19:37570332-37570333
allele	C/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	MAX	chr19:37568914-37570457	Hela-S3	cervix:	n/a	chr19:37569904-37569911
2	MYC	chr19:37569126-37570482	MCF10A-Er-Src	breast:	n/a	chr19:37569904-37569911
3	RCOR1	chr19:37570325-37570490	GM12878	blood:	n/a	n/a
4	SPI1	chr19:37570242-37570687	HL-60	blood:	n/a	n/a
5	CEBPB	chr19:37570265-37570550	HepG2	liver:	n/a	chr19:37570392-37570403
6	SREBP1	chr19:37568117-37570465	GM12878	blood:	n/a	n/a
7	MAX	chr19:37568707-37570467	K562	blood:	n/a	chr19:37569904-37569911
8	MAX	chr19:37570152-37570369	K562	blood:	n/a	n/a
9	HCFC1	chr19:37568368-37570575	Hela-S3	cervix:	n/a	n/a
10	MXI1	chr19:37568494-37570365	IMR90	lung:	n/a	n/a
11	SPI1	chr19:37570317-37570627	HL-60	blood:	n/a	n/a
12	ZNF263	chr19:37568806-37570642	HEK293-T-REx	kidney:	n/a	chr19:37570317-37570326 chr19:37568985-37568994
13	CEBPB	chr19:37569959-37570545	K562	blood:	n/a	chr19:37570392-37570403
14	MYC	chr19:37568729-37570545	K562	blood:	n/a	chr19:37569904-37569911

No.	Distal block	Cell Line	Cell type
1	chr19:37567228..37570692-chr19:37707204..37709250,4	K562	blood:
2	chr19:37568801..37570844-chr19:37707204..37709199,3	K562	blood:
3	chr19:37569539..37571299-chr19:37572694..37574980,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000267345	TF binding region
ENSG00000245680	Chromatin interaction
ENSG00000188283	Chromatin interaction

Extended variants
information (count: 91 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:77)

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]
rs60418129	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]
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]
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: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	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
13	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
14	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

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:37568000-37570600	Active TSS	HUES48 Cell Line	embryonic stem cell
2	chr19:37568200-37570600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr19:37568200-37570600	Active TSS	HUES64 Cell Line	embryonic stem cell
4	chr19:37568200-37570600	Active TSS	iPS-18 Cell Line	embryonic stem cell
5	chr19:37568200-37570600	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr19:37568400-37570400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr19:37568400-37570400	Active TSS	HUES6 Cell Line	embryonic stem cell
8	chr19:37568400-37570400	Active TSS	Fetal Muscle Trunk	muscle
9	chr19:37568400-37570400	Active TSS	K562	blood
10	chr19:37568400-37570600	Active TSS	ES-I3 Cell Line	embryonic stem cell
11	chr19:37568400-37570600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr19:37568400-37570600	Active TSS	HSMM	muscle
13	chr19:37568600-37570400	Active TSS	Ovary	ovary
14	chr19:37568600-37570600	Active TSS	Colonic Mucosa	Colon
15	chr19:37569400-37570600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr19:37569400-37570600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
17	chr19:37569600-37570400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
18	chr19:37569600-37570400	Active TSS	Right Atrium	heart
19	chr19:37569600-37570400	Flanking Active TSS	HUVEC	blood vessel
20	chr19:37569600-37570400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
21	chr19:37569600-37570600	Flanking Active TSS	Primary B cells from cord blood	blood
22	chr19:37569600-37570600	Flanking Active TSS	Primary hematopoietic stem cells	blood
23	chr19:37569600-37570600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
24	chr19:37569600-37570600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr19:37569600-37570600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr19:37569600-37570600	Flanking Active TSS	Adipose Nuclei	Adipose
27	chr19:37569600-37570600	Flanking Active TSS	Brain Cingulate Gyrus	brain
28	chr19:37569600-37570600	Flanking Active TSS	Duodenum Mucosa	Duodenum
29	chr19:37569600-37570600	Flanking Active TSS	Fetal Brain Female	brain
30	chr19:37569600-37570600	Flanking Active TSS	Pancreas	Pancrea
31	chr19:37569600-37570600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
32	chr19:37569600-37570600	Flanking Active TSS	HMEC	breast
33	chr19:37569800-37570400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
34	chr19:37569800-37570400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
35	chr19:37569800-37570400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
36	chr19:37569800-37570400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr19:37569800-37570400	Flanking Active TSS	Colon Smooth Muscle	Colon
38	chr19:37569800-37570400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
39	chr19:37569800-37570400	Flanking Active TSS	Fetal Lung	lung
40	chr19:37569800-37570400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
41	chr19:37569800-37570400	Flanking Active TSS	NH-A	brain
42	chr19:37569800-37570600	Flanking Active TSS	H1 Cell Line	embryonic stem cell
43	chr19:37569800-37570600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr19:37569800-37570600	Flanking Active TSS	Primary T cells from cord blood	blood
45	chr19:37569800-37570600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
46	chr19:37569800-37570600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
47	chr19:37569800-37570600	Flanking Active TSS	Liver	Liver
48	chr19:37569800-37570600	Flanking Active TSS	Brain Angular Gyrus	brain
49	chr19:37569800-37570600	Flanking Active TSS	Brain Anterior Caudate	brain
50	chr19:37569800-37570600	Flanking Active TSS	Brain Hippocampus Middle	brain

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