Variant report

Variant	rs28917171
Chromosome Location	chr5:151137077-151137078
allele	C/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	NR2F2	chr5:151136999-151137437	MCF-7	breast:	n/a	n/a
2	GATA3	chr5:151136748-151137485	T-47D	breast:	n/a	chr5:151137384-151137393 chr5:151136971-151136978 chr5:151137383-151137393 chr5:151137034-151137044
3	POLR2A	chr5:151136956-151137279	Hela-S3	cervix:	n/a	n/a
4	MAX	chr5:151136852-151137559	MCF-7	breast:	n/a	n/a
5	SIN3A	chr5:151136936-151138833	H1-hESC	embryonic stem cell:	n/a	n/a
6	MXI1	chr5:151136757-151139217	SK-N-SH	brain:	n/a	chr5:151137201-151137210 chr5:151137151-151137160
7	GATA3	chr5:151136608-151137561	MCF-7	breast:	n/a	chr5:151137384-151137393 chr5:151136971-151136978 chr5:151137383-151137393 chr5:151137034-151137044
8	POLR2A	chr5:151136812-151138541	GM12878	blood:	n/a	n/a
9	POLR2A	chr5:151136784-151137374	GM12892	blood:	n/a	n/a
10	MYC	chr5:151136902-151137438	MCF10A-Er-Src	breast:	n/a	n/a
11	FOS	chr5:151136971-151137123	MCF10A-Er-Src	breast:	n/a	n/a
12	POLR2A	chr5:151136848-151138965	K562	blood:	n/a	n/a
13	USF1	chr5:151137037-151137352	H1-hESC	embryonic stem cell:	n/a	n/a
14	MYC	chr5:151136917-151137435	MCF10A-Er-Src	breast:	n/a	n/a
15	ZNF217	chr5:151136850-151137425	MCF-7	breast:	n/a	n/a
16	HEY1	chr5:151137019-151137365	K562	blood:	n/a	n/a
17	TCF12	chr5:151136949-151137271	H1-hESC	embryonic stem cell:	n/a	chr5:151137151-151137161
18	NFIC	chr5:151136920-151137392	ECC-1	luminal epithelium:	n/a	n/a
19	POLR2A	chr5:151136336-151139161	GM12891	blood:	n/a	n/a
20	POLR2A	chr5:151136801-151138548	IMR90	lung:	n/a	n/a
21	POLR2A	chr5:151136934-151138685	GM12892	blood:	n/a	n/a
22	EBF1	chr5:151136920-151137291	GM12878	blood:	n/a	n/a
23	MTA3	chr5:151136806-151138838	GM12878	blood:	n/a	n/a
24	HDAC2	chr5:151136949-151137374	MCF-7	breast:	n/a	n/a
25	WRNIP1	chr5:151136490-151138122	GM12878	blood:	n/a	n/a
26	RUNX3	chr5:151136998-151137374	GM12878	blood:	n/a	n/a
27	EBF1	chr5:151136866-151137292	GM12878	blood:	n/a	n/a
28	SIN3AK20	chr5:151136680-151137566	MCF-7	breast:	n/a	n/a
29	GATA3	chr5:151136767-151137720	MCF-7	breast:	n/a	chr5:151137384-151137393 chr5:151136971-151136978 chr5:151137383-151137393 chr5:151137034-151137044
30	HDAC2	chr5:151136730-151137520	MCF-7	breast:	n/a	n/a
31	MAX	chr5:151137021-151137358	H1-hESC	embryonic stem cell:	n/a	n/a
32	MXI1	chr5:151136867-151137267	GM12878	blood:	n/a	chr5:151137201-151137210 chr5:151137151-151137160
33	POLR2A	chr5:151136970-151137343	GM12878	blood:	n/a	n/a
34	POLR2A	chr5:151135775-151138585	GM12878	blood:	n/a	n/a
35	MYC	chr5:151137054-151137188	GM12878	blood:	n/a	n/a
36	MXI1	chr5:151136986-151139089	IMR90	lung:	n/a	chr5:151137201-151137210 chr5:151137151-151137160
37	MAX	chr5:151136806-151137540	MCF-7	breast:	n/a	n/a
38	SIN3AK20	chr5:151136575-151137636	MCF-7	breast:	n/a	n/a
39	POLR2A	chr5:151137002-151138725	GM18505	blood:	n/a	n/a
40	GATA3	chr5:151136672-151137509	MCF-7	breast:	n/a	chr5:151137384-151137393 chr5:151136971-151136978 chr5:151137383-151137393 chr5:151137034-151137044
41	POLR2A	chr5:151137045-151137435	MCF-7	breast:	n/a	n/a
42	POLR2A	chr5:151136872-151137365	GM12891	blood:	n/a	n/a
43	POLR2A	chr5:151136977-151139073	HepG2	liver:	n/a	n/a
44	MAX	chr5:151136983-151139248	NB4	blood:	n/a	chr5:151138232-151138242
45	GATA3	chr5:151136726-151137485	T-47D	breast:	n/a	chr5:151137384-151137393 chr5:151136971-151136978 chr5:151137383-151137393 chr5:151137034-151137044
46	POLR2A	chr5:151136988-151138709	GM19193	blood:	n/a	n/a
47	POLR2A	chr5:151136796-151137329	GM12878	blood:	n/a	n/a
48	USF1	chr5:151136946-151137361	H1-hESC	embryonic stem cell:	n/a	n/a
49	TCF7L2	chr5:151136976-151137308	MCF-7	breast:	n/a	chr5:151136990-151137000
50	POLR2A	chr5:151136814-151138892	Raji	blood:	n/a	n/a

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

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

rs_ID	r²[population]
rs28916323	0.89[AFR][1000 genomes]
rs28916324	1.00[AFR][1000 genomes]
rs28917200	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28918972	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59097497	1.00[AFR][1000 genomes]

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:151120000-151137600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr5:151120200-151137200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr5:151123400-151137200	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr5:151126200-151137200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr5:151132800-151137400	Weak transcription	Aorta	Aorta
6	chr5:151134600-151137600	Enhancers	Sigmoid Colon	Sigmoid Colon
7	chr5:151134800-151137200	Enhancers	Primary B cells from peripheral blood	blood
8	chr5:151135200-151137200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr5:151135200-151137200	Enhancers	Stomach Mucosa	stomach
10	chr5:151135200-151137400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
11	chr5:151135600-151137200	Enhancers	Fetal Thymus	thymus
12	chr5:151135600-151137400	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr5:151135600-151137400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
14	chr5:151135800-151137200	Enhancers	Primary B cells from cord blood	blood
15	chr5:151135800-151137200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
16	chr5:151135800-151137400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
17	chr5:151135800-151137400	Flanking Active TSS	HepG2	liver
18	chr5:151135800-151137600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr5:151135800-151137600	Flanking Active TSS	GM12878-XiMat	blood
20	chr5:151135800-151137800	Flanking Active TSS	Liver	Liver
21	chr5:151136000-151137200	Enhancers	Rectal Mucosa Donor 31	rectum
22	chr5:151136000-151137400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
23	chr5:151136000-151137400	Enhancers	Gastric	stomach
24	chr5:151136000-151137400	Enhancers	Small Intestine	intestine
25	chr5:151136000-151137600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr5:151136000-151137800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
27	chr5:151136200-151137200	Enhancers	Right Atrium	heart
28	chr5:151136400-151137200	Enhancers	Primary T helper naive cells from peripheral blood	blood
29	chr5:151136400-151137400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr5:151136400-151137400	Enhancers	Placenta	Placenta
31	chr5:151136400-151137400	Enhancers	Left Ventricle	heart
32	chr5:151136400-151137600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr5:151136400-151137800	Flanking Active TSS	Duodenum Mucosa	Duodenum
34	chr5:151136600-151137200	Enhancers	Fetal Muscle Leg	muscle
35	chr5:151136600-151137200	Enhancers	Fetal Stomach	stomach
36	chr5:151136600-151137400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr5:151136600-151137400	Enhancers	Cortex derived primary cultured neurospheres	brain
38	chr5:151136600-151137600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
39	chr5:151136600-151137600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr5:151136600-151137800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
41	chr5:151136600-151137800	Flanking Active TSS	Adipose Nuclei	Adipose
42	chr5:151136600-151137800	Flanking Active TSS	Colonic Mucosa	Colon
43	chr5:151136600-151137800	Flanking Active TSS	Dnd41	blood
44	chr5:151136800-151137200	Enhancers	Breast Myoepithelial Primary Cells	Breast
45	chr5:151136800-151137200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr5:151136800-151137200	Enhancers	Fetal Heart	heart
47	chr5:151136800-151137200	Enhancers	Lung	lung
48	chr5:151136800-151137400	Enhancers	H1 Cell Line	embryonic stem cell
49	chr5:151136800-151137400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
50	chr5:151136800-151137400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--

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