Variant report

Variant	rs73604055
Chromosome Location	chr10:28031511-28031512
allele	A/G
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	chr10:28031052-28031564	SK-N-MC	brain:	n/a	n/a
2	POLR2A	chr10:28031307-28031550	GM12878	blood:	n/a	n/a
3	PAX5	chr10:28031051-28031590	GM12878	blood:	n/a	chr10:28031228-28031237
4	MAX	chr10:28030999-28031634	ECC-1	luminal epithelium:	n/a	chr10:28031404-28031413
5	CEBPB	chr10:28031148-28031602	Hela-S3	cervix:	n/a	chr10:28031404-28031415
6	TCF3	chr10:28031097-28031598	GM12878	blood:	n/a	n/a
7	EP300	chr10:28030949-28031631	H1-hESC	embryonic stem cell:	n/a	chr10:28031401-28031415
8	RAD21	chr10:28031023-28031604	H1-hESC	embryonic stem cell:	n/a	n/a
9	TAF1	chr10:28030995-28031753	ECC-1	luminal epithelium:	n/a	n/a
10	RAD21	chr10:28030961-28031552	ECC-1	luminal epithelium:	n/a	n/a
11	RAD21	chr10:28030899-28031593	MCF-7	breast:	n/a	n/a
12	TBP	chr10:28031190-28031538	Hela-S3	cervix:	n/a	n/a
13	TEAD4	chr10:28031072-28031543	ECC-1	luminal epithelium:	n/a	n/a
14	CEBPB	chr10:28031175-28031595	IMR90	lung:	n/a	chr10:28031404-28031415
15	NFIC	chr10:28031095-28031577	GM12878	blood:	n/a	n/a
16	CEBPB	chr10:28031181-28031515	MCF-7	breast:	n/a	chr10:28031404-28031415
17	MAFK	chr10:28031097-28031512	Hela-S3	cervix:	n/a	n/a
18	MTA3	chr10:28031158-28031547	GM12878	blood:	n/a	n/a
19	TCF7L2	chr10:28030746-28031528	HCT-116	colon:	n/a	chr10:28030972-28030981 chr10:28031142-28031149 chr10:28030972-28030982 chr10:28030968-28030984 chr10:28030971-28030980 chr10:28030969-28030983 chr10:28030968-28030984
20	RUNX3	chr10:28031126-28031577	GM12878	blood:	n/a	n/a
21	TEAD4	chr10:28030983-28031647	ECC-1	luminal epithelium:	n/a	n/a
22	TAF1	chr10:28031246-28031570	H1-hESC	embryonic stem cell:	n/a	n/a
23	TCF12	chr10:28031203-28031535	GM12878	blood:	n/a	chr10:28031522-28031529 chr10:28031518-28031528 chr10:28031521-28031531
24	CEBPB	chr10:28031265-28031524	HepG2	liver:	n/a	chr10:28031404-28031415
25	MAX	chr10:28030913-28031590	A549	lung:	n/a	chr10:28031404-28031413
26	EP300	chr10:28031222-28031524	GM12878	blood:	n/a	chr10:28031401-28031415
27	TCF7L2	chr10:28030735-28031656	PANC-1	pancreas:	n/a	chr10:28030972-28030981 chr10:28031142-28031149 chr10:28030972-28030982 chr10:28030968-28030984 chr10:28030971-28030980 chr10:28030969-28030983 chr10:28030968-28030984
28	HMGN3	chr10:28031059-28031778	K562	blood:	n/a	n/a
29	BCLAF1	chr10:28031099-28031600	GM12878	blood:	n/a	chr10:28031585-28031598
30	RUNX3	chr10:28031122-28031587	GM12878	blood:	n/a	n/a
31	NRF1	chr10:28031112-28031561	SK-N-SH	brain:	n/a	chr10:28031267-28031278 chr10:28031264-28031278 chr10:28031267-28031281 chr10:28031267-28031278
32	POLR2A	chr10:28031140-28033015	HCT-116	colon:	n/a	n/a
33	TAF7	chr10:28031189-28031635	H1-hESC	embryonic stem cell:	n/a	n/a
34	FOXM1	chr10:28031055-28031523	GM12878	blood:	n/a	n/a
35	POLR2A	chr10:28031033-28031524	IMR90	lung:	n/a	n/a
36	MAZ	chr10:28031048-28031524	Hela-S3	cervix:	n/a	chr10:28031404-28031413
37	POLR2A	chr10:28031180-28031589	Hela-S3	cervix:	n/a	n/a
38	CEBPB	chr10:28031080-28031585	H1-hESC	embryonic stem cell:	n/a	chr10:28031404-28031415
39	POLR2A	chr10:28031248-28031594	MCF10A-Er-Src	breast:	n/a	n/a
40	RAD21	chr10:28030936-28031605	HCT-116	colon:	n/a	n/a
41	RAD21	chr10:28030775-28031581	HCT-116	colon:	n/a	n/a
42	UBTF	chr10:28031509-28031705	K562	blood:	n/a	n/a
43	ZKSCAN1	chr10:28031160-28031550	Hela-S3	cervix:	n/a	n/a
44	POLR2A	chr10:28031207-28031632	MCF10A-Er-Src	breast:	n/a	n/a
45	BATF	chr10:28031078-28031591	GM12878	blood:	n/a	n/a
46	CEBPB	chr10:28031204-28031522	K562	blood:	n/a	chr10:28031404-28031415
47	BCL11A	chr10:28031171-28031541	GM12878	blood:	n/a	n/a
48	JUND	chr10:28030915-28031603	H1-hESC	embryonic stem cell:	n/a	chr10:28031544-28031553 chr10:28031366-28031378
49	POLR2A	chr10:28031309-28031715	MCF-7	breast:	n/a	n/a
50	MAX	chr10:28031095-28031516	Hela-S3	cervix:	n/a	chr10:28031404-28031413

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:28030500..28032197-chr10:28034707..28036331,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000230500	TF binding region
ENSG00000150051	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs57040272	0.91[AFR][1000 genomes]
rs73604054	0.82[AFR][1000 genomes]
rs73604056	0.91[AFR][1000 genomes]
rs73604058	0.91[AFR][1000 genomes]
rs73604059	0.91[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3368825	chr10:27864181-28043820	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
2	nsv831813	chr10:28017606-28200651	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv917149	chr10:28018919-28688694	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:28029800-28032600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
2	chr10:28029800-28033200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
3	chr10:28029800-28035800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
4	chr10:28029800-28036000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
5	chr10:28030000-28032800	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr10:28030000-28033400	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr10:28030000-28033600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
8	chr10:28030000-28036600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
9	chr10:28030200-28031800	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
10	chr10:28030200-28032800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr10:28030200-28036200	Bivalent Enhancer	Fetal Brain Male	brain
12	chr10:28030200-28036400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
13	chr10:28030400-28031600	Bivalent/Poised TSS	Thymus	Thymus
14	chr10:28030400-28031800	Bivalent/Poised TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr10:28030400-28032200	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr10:28030400-28033200	Bivalent/Poised TSS	Brain Angular Gyrus	brain
17	chr10:28030400-28033400	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr10:28030600-28032200	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
19	chr10:28030600-28032800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr10:28030600-28033200	Active TSS	Breast Myoepithelial Primary Cells	Breast
21	chr10:28030600-28035400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr10:28030800-28031600	Bivalent/Poised TSS	Fetal Kidney	kidney
23	chr10:28030800-28031800	Bivalent/Poised TSS	HepG2	liver
24	chr10:28030800-28032000	Bivalent/Poised TSS	A549	lung
25	chr10:28030800-28032600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
26	chr10:28030800-28032800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr10:28030800-28032800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
28	chr10:28030800-28033000	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
29	chr10:28030800-28033400	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
30	chr10:28030800-28033800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
31	chr10:28030800-28035000	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
32	chr10:28030800-28035600	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
33	chr10:28030800-28035800	Active TSS	Aorta	Aorta
34	chr10:28031000-28031600	Bivalent/Poised TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr10:28031000-28031600	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood
36	chr10:28031000-28031600	Active TSS	Right Ventricle	heart
37	chr10:28031000-28031800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr10:28031000-28031800	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr10:28031000-28031800	Active TSS	Lung	lung
40	chr10:28031000-28031800	Active TSS	Pancreas	Pancrea
41	chr10:28031000-28031800	Active TSS	HSMM	muscle
42	chr10:28031000-28032000	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
43	chr10:28031000-28032200	Active TSS	Rectal Smooth Muscle	rectum
44	chr10:28031000-28032200	Active TSS	Hela-S3	cervix
45	chr10:28031000-28032400	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
46	chr10:28031000-28032600	Active TSS	Brain Substantia Nigra	brain
47	chr10:28031000-28032600	Bivalent/Poised TSS	Fetal Lung	lung
48	chr10:28031000-28032800	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
49	chr10:28031000-28033000	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr10:28031000-28033600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell

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