Variant report

Variant	rs28917168
Chromosome Location	chr5:151137685-151137686
allele	A/C
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	chr5:151137581-151138779	PFSK-1	brain:	n/a	n/a
2	MAFK	chr5:151137600-151137827	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr5:151137517-151138847	Hela-S3	cervix:	n/a	n/a
4	RUNX3	chr5:151137421-151137850	GM12878	blood:	n/a	n/a
5	POLR2A	chr5:151137382-151138838	K562	blood:	n/a	n/a
6	RCOR1	chr5:151137381-151138516	Hela-S3	cervix:	n/a	n/a
7	E2F4	chr5:151137628-151138380	MCF10A-Er-Src	breast:	n/a	chr5:151138297-151138306
8	POLR2A	chr5:151137233-151138692	MCF10A-Er-Src	breast:	n/a	n/a
9	POLR2A	chr5:151137588-151138974	K562	blood:	n/a	n/a
10	MAX	chr5:151137582-151138560	GM12878	blood:	n/a	chr5:151138232-151138242
11	GTF2F1	chr5:151137202-151138625	Hela-S3	cervix:	n/a	n/a
12	SIN3A	chr5:151136936-151138833	H1-hESC	embryonic stem cell:	n/a	n/a
13	POLR2A	chr5:151137416-151138838	K562	blood:	n/a	n/a
14	MAZ	chr5:151137502-151138695	GM12878	blood:	n/a	chr5:151138232-151138242
15	MAZ	chr5:151137673-151137907	HepG2	liver:	n/a	n/a
16	MXI1	chr5:151136757-151139217	SK-N-SH	brain:	n/a	chr5:151137201-151137210 chr5:151137151-151137160
17	MXI1	chr5:151137600-151138754	HepG2	liver:	n/a	n/a
18	POLR2A	chr5:151137325-151138938	K562	blood:	n/a	n/a
19	GABPA	chr5:151137596-151138310	K562	blood:	n/a	chr5:151137738-151137747
20	POLR2A	chr5:151136812-151138541	GM12878	blood:	n/a	n/a
21	ZMIZ1	chr5:151137557-151138965	K562	blood:	n/a	n/a
22	ELF1	chr5:151137443-151138744	GM12878	blood:	n/a	chr5:151137996-151138008 chr5:151138242-151138254
23	MAX	chr5:151137648-151138574	MCF-7	breast:	n/a	chr5:151138232-151138242
24	TAF1	chr5:151137590-151138674	ECC-1	luminal epithelium:	n/a	n/a
25	TBP	chr5:151137461-151138944	K562	blood:	n/a	n/a
26	RELA	chr5:151137521-151138765	GM15510	blood:	n/a	n/a
27	JUND	chr5:151137157-151138957	K562	blood:	n/a	n/a
28	POLR2A	chr5:151136848-151138965	K562	blood:	n/a	n/a
29	RUNX3	chr5:151137682-151138749	GM12878	blood:	n/a	n/a
30	SMC3	chr5:151137461-151138472	Hela-S3	cervix:	n/a	n/a
31	MXI1	chr5:151137200-151138465	Hela-S3	cervix:	n/a	chr5:151137201-151137210
32	POLR2A	chr5:151137490-151139032	PBDE	blood:	n/a	n/a
33	ELF1	chr5:151137626-151138637	HCT-116	colon:	n/a	chr5:151137996-151138008 chr5:151138242-151138254
34	MYC	chr5:151137205-151138930	K562	blood:	n/a	chr5:151138232-151138242
35	POLR2A	chr5:151137565-151138901	H1-hESC	embryonic stem cell:	n/a	n/a
36	POLR2A	chr5:151137495-151138510	GM12891	blood:	n/a	n/a
37	REST	chr5:151137342-151139074	H1-neurons	neurons:	n/a	chr5:151137730-151137748 chr5:151138232-151138245
38	POLR2A	chr5:151137430-151138631	U87	brain:	n/a	n/a
39	CEBPB	chr5:151137552-151138301	Hela-S3	cervix:	n/a	n/a
40	POLR2A	chr5:151136336-151139161	GM12891	blood:	n/a	n/a
41	ZKSCAN1	chr5:151137588-151138351	Hela-S3	cervix:	n/a	n/a
42	POLR2A	chr5:151137413-151138657	GM12878	blood:	n/a	n/a
43	POLR2A	chr5:151136801-151138548	IMR90	lung:	n/a	n/a
44	POLR2A	chr5:151136934-151138685	GM12892	blood:	n/a	n/a
45	POLR2A	chr5:151137115-151138620	GM15510	blood:	n/a	n/a
46	STAT5A	chr5:151137425-151138487	GM12878	blood:	n/a	n/a
47	MTA3	chr5:151136806-151138838	GM12878	blood:	n/a	n/a
48	SMARCB1	chr5:151137570-151138738	Hela-S3	cervix:	n/a	n/a
49	RCOR1	chr5:151137339-151138942	K562	blood:	n/a	n/a
50	UBTF	chr5:151137528-151138846	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:151130438..151133426-chr5:151135188..151138326,3	MCF-7	breast:
2	chr5:151137664..151138245-chr7:86781839..86782780,2	Hela-S3	cervix:
3	chr5:151133471..151135329-chr5:151136735..151138347,2	MCF-7	breast:
4	chr5:151130259..151133266-chr5:151136603..151138704,3	MCF-7	breast:
5	chr5:151133870..151141079-chr5:151148554..151154544,14	MCF-7	breast:
6	chr5:151064278..151066723-chr5:151136368..151138429,2	K562	blood:
7	chr5:151136180..151141661-chr5:151146894..151154161,25	MCF-7	breast:
8	chr5:151061995..151063530-chr5:151135806..151138162,2	MCF-7	breast:

Variant related genes	Relation type
ATOX1	TF binding region
ENSG00000177556	Chromatin interaction
ENSG00000145907	Chromatin interaction
ENSG00000113140	Chromatin interaction
ENSG00000253921	Chromatin interaction
ENSG00000135164	Chromatin interaction

rs_ID	r²[population]
rs10036616	0.88[EUR][1000 genomes]
rs10058885	0.88[EUR][1000 genomes]
rs10059511	0.90[EUR][1000 genomes]
rs10062143	0.88[EUR][1000 genomes]
rs10064300	0.94[EUR][1000 genomes]
rs10074267	0.90[EUR][1000 genomes]
rs10074385	0.90[EUR][1000 genomes]
rs10074443	0.90[EUR][1000 genomes]
rs10075210	0.96[EUR][1000 genomes]
rs10477000	0.90[EUR][1000 genomes]
rs11953528	0.93[EUR][1000 genomes]
rs11954396	0.83[EUR][1000 genomes]
rs11956353	0.91[EUR][1000 genomes]
rs11958614	0.81[EUR][1000 genomes]
rs12332554	0.92[EUR][1000 genomes]
rs2053062	0.81[ASN][1000 genomes]
rs28445353	0.92[EUR][1000 genomes]
rs28917174	0.96[EUR][1000 genomes]
rs28917193	0.96[EUR][1000 genomes]
rs3209060	0.88[EUR][1000 genomes]
rs3812003	0.92[EUR][1000 genomes]
rs3812004	0.92[EUR][1000 genomes]
rs57723600	0.90[EUR][1000 genomes]
rs6876258	0.88[EUR][1000 genomes]
rs6881068	0.92[EUR][1000 genomes]
rs6898736	0.92[EUR][1000 genomes]
rs73281646	0.92[EUR][1000 genomes]
rs7356721	0.92[EUR][1000 genomes]
rs7726718	0.87[EUR][1000 genomes]
rs7731472	0.96[EUR][1000 genomes]

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:151135800-151137800	Flanking Active TSS	Liver	Liver
2	chr5:151136000-151137800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
3	chr5:151136400-151137800	Flanking Active TSS	Duodenum Mucosa	Duodenum
4	chr5:151136600-151137800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
5	chr5:151136600-151137800	Flanking Active TSS	Adipose Nuclei	Adipose
6	chr5:151136600-151137800	Flanking Active TSS	Colonic Mucosa	Colon
7	chr5:151136600-151137800	Flanking Active TSS	Dnd41	blood
8	chr5:151136800-151137800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr5:151136800-151137800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr5:151136800-151137800	Flanking Active TSS	Brain Cingulate Gyrus	brain
11	chr5:151136800-151137800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
12	chr5:151136800-151137800	Flanking Active TSS	Stomach Smooth Muscle	stomach
13	chr5:151136800-151138000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
14	chr5:151137000-151137800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr5:151137000-151137800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr5:151137000-151137800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
17	chr5:151137000-151137800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr5:151137000-151137800	Flanking Active TSS	Brain Germinal Matrix	brain
19	chr5:151137000-151137800	Flanking Active TSS	Fetal Brain Female	brain
20	chr5:151137000-151137800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
21	chr5:151137000-151137800	Flanking Active TSS	Thymus	Thymus
22	chr5:151137000-151137800	Flanking Active TSS	NHLF	lung
23	chr5:151137000-151138000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
24	chr5:151137000-151138000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
25	chr5:151137000-151138000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr5:151137000-151138600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr5:151137000-151138600	Active TSS	iPS-20b Cell Line	embryonic stem cell
28	chr5:151137000-151138800	Flanking Active TSS	Primary hematopoietic stem cells	blood
29	chr5:151137200-151137800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
30	chr5:151137200-151137800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
31	chr5:151137200-151137800	Flanking Active TSS	Primary B cells from peripheral blood	blood
32	chr5:151137200-151137800	Flanking Active TSS	Fetal Heart	heart
33	chr5:151137200-151137800	Flanking Active TSS	Fetal Muscle Leg	muscle
34	chr5:151137200-151137800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
35	chr5:151137200-151137800	Flanking Active TSS	Stomach Mucosa	stomach
36	chr5:151137200-151138000	Flanking Active TSS	Fetal Thymus	thymus
37	chr5:151137200-151138600	Active TSS	Right Atrium	heart
38	chr5:151137200-151138800	Active TSS	iPS-15b Cell Line	embryonic stem cell
39	chr5:151137200-151138800	Flanking Active TSS	Primary B cells from cord blood	blood
40	chr5:151137200-151138800	Active TSS	Pancreatic Islets	Pancreatic Islet
41	chr5:151137200-151139000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr5:151137400-151137800	Flanking Active TSS	H1 Cell Line	embryonic stem cell
43	chr5:151137400-151137800	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr5:151137400-151137800	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
45	chr5:151137400-151137800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
46	chr5:151137400-151137800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
47	chr5:151137400-151137800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
48	chr5:151137400-151137800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
49	chr5:151137400-151137800	Flanking Active TSS	Placenta	Placenta
50	chr5:151137400-151137800	Flanking Active TSS	Right Ventricle	heart

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