Variant report

Variant	rs73945523
Chromosome Location	chr2:86080763-86080764
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	POLR2A	chr2:86080402-86080974	GM12878	blood:	n/a	n/a
2	RUNX3	chr2:86079992-86081587	GM12878	blood:	n/a	chr2:86080438-86080455
3	STAT5A	chr2:86079805-86080939	GM12878	blood:	n/a	n/a
4	EBF1	chr2:86080080-86081484	GM12878	blood:	n/a	n/a
5	POLR2A	chr2:86080195-86080971	GM12878	blood:	n/a	n/a
6	CHD1	chr2:86080048-86081222	GM12878	blood:	n/a	n/a
7	CUX1	chr2:86080757-86081546	GM12878	blood:	n/a	n/a
8	YY1	chr2:86080275-86081044	GM12878	blood:	n/a	n/a
9	RCOR1	chr2:86080014-86081631	GM12878	blood:	n/a	n/a
10	NFIC	chr2:86080204-86081622	GM12878	blood:	n/a	n/a
11	POLR2A	chr2:86080243-86081013	GM12892	blood:	n/a	n/a
12	RELA	chr2:86080061-86081754	GM18951	blood:	n/a	n/a
13	EP300	chr2:86080101-86081512	GM12878	blood:	n/a	chr2:86081132-86081146
14	WRNIP1	chr2:86079960-86081035	GM12878	blood:	n/a	n/a
15	NFIC	chr2:86080068-86081776	GM12878	blood:	n/a	n/a
16	RELA	chr2:86080033-86081496	GM18505	blood:	n/a	n/a
17	MXI1	chr2:86080162-86081434	GM12878	blood:	n/a	n/a
18	MAX	chr2:86080023-86081431	GM12878	blood:	n/a	chr2:86080645-86080656 chr2:86080644-86080657 chr2:86080647-86080654 chr2:86080646-86080656 chr2:86080646-86080655 chr2:86080644-86080659
19	RELA	chr2:86080052-86081470	GM19099	blood:	n/a	n/a
20	TBL1XR1	chr2:86080109-86081889	GM12878	blood:	n/a	n/a
21	BATF	chr2:86080645-86081538	GM12878	blood:	n/a	n/a
22	POLR2A	chr2:86080028-86081125	GM12878	blood:	n/a	n/a
23	IKZF1	chr2:86080188-86081462	GM12878	blood:	n/a	n/a
24	FOXM1	chr2:86079995-86081497	GM12878	blood:	n/a	n/a
25	POU2F2	chr2:86080124-86081084	GM12878	blood:	n/a	chr2:86080627-86080649
26	POLR2A	chr2:86079891-86080864	GM12892	blood:	n/a	n/a
27	IRF4	chr2:86080421-86080935	GM12878	blood:	n/a	n/a
28	MTA3	chr2:86079890-86081817	GM12878	blood:	n/a	n/a
29	MAZ	chr2:86080085-86081579	GM12878	blood:	n/a	chr2:86080645-86080656 chr2:86080644-86080657 chr2:86080647-86080654 chr2:86080646-86080656 chr2:86080646-86080655 chr2:86080644-86080659
30	RELA	chr2:86080209-86081494	GM19193	blood:	n/a	n/a
31	POU2F2	chr2:86080186-86080878	GM12891	blood:	n/a	chr2:86080627-86080649
32	GATA2	chr2:86079717-86080802	SH-SY5Y	brain:	n/a	n/a
33	ZNF263	chr2:86080744-86081049	HEK293-T-REx	kidney:	n/a	chr2:86080893-86080902 chr2:86080879-86080900
34	PAX5	chr2:86080047-86081049	GM12878	blood:	n/a	chr2:86080459-86080468
35	BCLAF1	chr2:86080049-86081286	GM12878	blood:	n/a	chr2:86081132-86081141
36	POLR2A	chr2:86080006-86081122	GM12878	blood:	n/a	n/a
37	CHD2	chr2:86079842-86081804	GM12878	blood:	n/a	n/a
38	USF2	chr2:86080426-86080927	GM12878	blood:	n/a	n/a
39	NFATC1	chr2:86080119-86081351	GM12878	blood:	n/a	n/a
40	NFATC1	chr2:86080634-86081219	GM12878	blood:	n/a	n/a
41	BHLHE40	chr2:86080124-86081594	GM12878	blood:	n/a	n/a
42	MTA3	chr2:86080088-86081070	GM12878	blood:	n/a	n/a
43	POLR2A	chr2:86080037-86081645	GM12878	blood:	n/a	n/a
44	RELA	chr2:86080218-86081656	GM12878	blood:	n/a	n/a
45	PML	chr2:86079962-86081823	GM12878	blood:	n/a	n/a
46	FOXM1	chr2:86080129-86081688	GM12878	blood:	n/a	n/a
47	RUNX3	chr2:86080086-86081625	GM12878	blood:	n/a	chr2:86080438-86080455
48	ATF2	chr2:86079900-86081624	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:86075670..86078465-chr2:86079454..86081924,2	MCF-7	breast:

Variant related genes	Relation type
ST3GAL5	TF binding region
ENSG00000115525	Chromatin interaction

rs_ID	r²[population]
rs17026729	0.95[AFR][1000 genomes]
rs58854261	1.00[AMR][1000 genomes]
rs73943909	0.83[AFR][1000 genomes]
rs73943915	1.00[AMR][1000 genomes]
rs73943916	1.00[AMR][1000 genomes]
rs73945530	0.95[AFR][1000 genomes]
rs73945531	1.00[AMR][1000 genomes]
rs73945532	1.00[AMR][1000 genomes]
rs73945535	0.95[AFR][1000 genomes]

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:86066000-86106200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:86066200-86081400	Weak transcription	Right Ventricle	heart
3	chr2:86066400-86091400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr2:86067000-86099000	Weak transcription	Gastric	stomach
5	chr2:86067200-86087000	Weak transcription	Fetal Brain Male	brain
6	chr2:86067400-86084800	Weak transcription	Ovary	ovary
7	chr2:86067600-86086200	Weak transcription	Fetal Brain Female	brain
8	chr2:86071400-86080800	Weak transcription	Fetal Intestine Small	intestine
9	chr2:86071800-86080800	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr2:86071800-86096200	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr2:86072000-86090400	Strong transcription	Cortex derived primary cultured neurospheres	brain
12	chr2:86072000-86096800	Weak transcription	Psoas Muscle	Psoas
13	chr2:86073000-86083600	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr2:86074000-86089800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr2:86074600-86080800	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr2:86074600-86089600	Weak transcription	NH-A	brain
17	chr2:86074800-86086200	Weak transcription	HSMM	muscle
18	chr2:86075200-86082400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr2:86075400-86114000	Weak transcription	Aorta	Aorta
20	chr2:86076000-86090400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr2:86076800-86081000	Strong transcription	Liver	Liver
22	chr2:86076800-86081400	Weak transcription	Right Atrium	heart
23	chr2:86077200-86088600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr2:86077600-86082400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr2:86078200-86081000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
26	chr2:86078400-86080800	Genic enhancers	Brain Substantia Nigra	brain
27	chr2:86078400-86081000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
28	chr2:86078400-86081000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
29	chr2:86078400-86081000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
30	chr2:86078400-86081600	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr2:86078400-86081800	Flanking Active TSS	GM12878-XiMat	blood
32	chr2:86078400-86082000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
33	chr2:86078400-86082000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
34	chr2:86078600-86081000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
35	chr2:86078600-86081600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
36	chr2:86078600-86081600	Genic enhancers	Skeletal Muscle Male	skeletal muscle
37	chr2:86078600-86081800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
38	chr2:86079000-86081000	Strong transcription	Fetal Stomach	stomach
39	chr2:86079000-86092000	Weak transcription	Esophagus	oesophagus
40	chr2:86079200-86082200	Enhancers	Placenta	Placenta
41	chr2:86079200-86090400	Strong transcription	A549	lung
42	chr2:86079200-86092000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr2:86079200-86092600	Weak transcription	Colon Smooth Muscle	Colon
44	chr2:86079200-86092800	Weak transcription	Stomach Smooth Muscle	stomach
45	chr2:86079400-86081600	Active TSS	Rectal Smooth Muscle	rectum
46	chr2:86079400-86082000	Flanking Active TSS	Primary T cells from cord blood	blood
47	chr2:86079400-86083200	Weak transcription	HMEC	breast
48	chr2:86079600-86081800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
49	chr2:86079600-86082200	Enhancers	Primary hematopoietic stem cells short term culture	blood
50	chr2:86079600-86087800	Weak transcription	Osteobl	bone

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