Variant report

Variant	rs527286367
Chromosome Location	chr2:86116043-86116044
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	chr2:86115632-86116606	MCF-7	breast:	n/a	n/a
2	TCF12	chr2:86115858-86116638	ECC-1	luminal epithelium:	n/a	n/a
3	CREB1	chr2:86115731-86116496	H1-hESC	embryonic stem cell:	n/a	chr2:86116164-86116177
4	NFIC	chr2:86115954-86116840	SK-N-SH	brain:	n/a	n/a
5	USF1	chr2:86115959-86116343	A549	lung:	n/a	chr2:86116109-86116125
6	EGR1	chr2:86115895-86116427	MCF-7	breast:	n/a	chr2:86116150-86116164 chr2:86116076-86116090 chr2:86116149-86116164 chr2:86116150-86116163 chr2:86116152-86116162 chr2:86116150-86116163 chr2:86116146-86116168 chr2:86116150-86116163 chr2:86116153-86116162 chr2:86116151-86116162 chr2:86116138-86116152 chr2:86116138-86116149 chr2:86116150-86116163 chr2:86116152-86116162
7	USF1	chr2:86115868-86116554	HCT-116	colon:	n/a	chr2:86115890-86115906 chr2:86116109-86116125
8	SIN3A	chr2:86114635-86117010	H1-hESC	embryonic stem cell:	n/a	chr2:86114867-86114875 chr2:86115823-86115836 chr2:86115856-86115867
9	MYC	chr2:86115977-86116772	K562	blood:	n/a	chr2:86116152-86116161
10	CCNT2	chr2:86115672-86116496	K562	blood:	n/a	n/a
11	CTCF	chr2:86115900-86116050	AG04450	lung:	n/a	n/a
12	YY1	chr2:86115738-86116369	K562	blood:	n/a	chr2:86115817-86115831 chr2:86115888-86115899
13	USF1	chr2:86115860-86116602	SK-N-SH	brain:	n/a	chr2:86115890-86115906 chr2:86116109-86116125
14	POLR2A	chr2:86115705-86116420	H1-neurons	neurons:	n/a	n/a
15	ATF2	chr2:86116023-86116686	GM12878	blood:	n/a	chr2:86116165-86116176
16	EGR1	chr2:86115800-86116586	HCT-116	colon:	n/a	chr2:86116150-86116164 chr2:86116076-86116090 chr2:86116149-86116164 chr2:86116150-86116163 chr2:86116152-86116162 chr2:86116150-86116163 chr2:86116146-86116168 chr2:86116150-86116163 chr2:86116153-86116162 chr2:86116151-86116162 chr2:86116138-86116152 chr2:86116138-86116149 chr2:86116150-86116163 chr2:86116152-86116162
17	USF1	chr2:86115847-86116364	HepG2	liver:	n/a	chr2:86115890-86115906 chr2:86116109-86116125
18	TAF1	chr2:86116014-86116369	GM12878	blood:	n/a	n/a
19	USF1	chr2:86116011-86116331	HepG2	liver:	n/a	chr2:86116109-86116125
20	POLR2A	chr2:86115860-86116372	A549	lung:	n/a	n/a
21	RAD21	chr2:86115747-86116522	H1-hESC	embryonic stem cell:	n/a	chr2:86116109-86116122 chr2:86116282-86116296 chr2:86116278-86116297 chr2:86116271-86116285 chr2:86116282-86116292 chr2:86116281-86116294
22	MXI1	chr2:86112995-86117346	IMR90	lung:	n/a	n/a
23	MYC	chr2:86115875-86116572	K562	blood:	n/a	chr2:86116152-86116161 chr2:86115924-86115934
24	TAF1	chr2:86115925-86116376	ECC-1	luminal epithelium:	n/a	n/a
25	FOXP2	chr2:86116004-86116367	SK-N-MC	brain:	n/a	n/a
26	CTCF	chr2:86115840-86116074	LNCaP	prostate:	n/a	n/a
27	CEBPB	chr2:86116010-86116528	HepG2	liver:	n/a	n/a
28	POLR2A	chr2:86115880-86116567	IMR90	lung:	n/a	n/a
29	NFIC	chr2:86115957-86116686	ECC-1	luminal epithelium:	n/a	n/a
30	ELF1	chr2:86115757-86116373	K562	blood:	n/a	n/a
31	POLR2A	chr2:86115902-86116686	K562	blood:	n/a	n/a
32	CTCF	chr2:86115855-86116061	GM12878	blood:	n/a	n/a
33	USF1	chr2:86115908-86116520	A549	lung:	n/a	chr2:86116109-86116125
34	RAD21	chr2:86115831-86116563	HepG2	liver:	n/a	chr2:86116109-86116122 chr2:86116282-86116296 chr2:86116278-86116297 chr2:86116271-86116285 chr2:86116282-86116292 chr2:86116281-86116294
35	RAD21	chr2:86115875-86116461	GM12878	blood:	n/a	chr2:86116109-86116122 chr2:86116282-86116296 chr2:86116278-86116297 chr2:86116271-86116285 chr2:86116282-86116292 chr2:86116281-86116294
36	RAD21	chr2:86115751-86116697	HCT-116	colon:	n/a	chr2:86116109-86116122 chr2:86116282-86116296 chr2:86116278-86116297 chr2:86116271-86116285 chr2:86116282-86116292 chr2:86116281-86116294
37	CTCF	chr2:86115760-86116403	H1-hESC	embryonic stem cell:	n/a	chr2:86116282-86116295 chr2:86116280-86116298
38	CTCF	chr2:86115837-86116075	GM19240	blood:	n/a	n/a
39	CTCF	chr2:86115865-86116045	A549	lung:	n/a	n/a
40	MAX	chr2:86115582-86117073	K562	blood:	n/a	chr2:86116152-86116161 chr2:86115924-86115934
41	CTCF	chr2:86115814-86116477	GM10266	blood:	n/a	chr2:86116282-86116295 chr2:86116280-86116298
42	GATA3	chr2:86114573-86117350	A549	lung:	n/a	chr2:86114618-86114629 chr2:86116346-86116356 chr2:86115122-86115129
43	RUNX3	chr2:86116032-86116694	GM12878	blood:	n/a	n/a
44	CTCF	chr2:86115818-86116065	Pancreas_OC	pancreas:	n/a	n/a
45	USF2	chr2:86116023-86116568	HepG2	liver:	n/a	chr2:86116109-86116125
46	CTCF	chr2:86115831-86116064	GM13977	blood:	n/a	n/a
47	HMGN3	chr2:86115197-86116654	K562	blood:	n/a	n/a
48	CTCF	chr2:86115817-86116075	HepG2	liver:	n/a	n/a
49	IRF1	chr2:86115934-86116878	K562	blood:	n/a	chr2:86116154-86116168
50	CREB1	chr2:86115686-86116680	GM12878	blood:	n/a	chr2:86116164-86116177

Variant related genes	Relation type
ST3GAL5	TF binding region
ENSG00000232504	TF binding region

Extended variants
information (count: 1 )
Associated
traits (count: 0)

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3416470	chr2:86115141-86117289	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	TF binding region CpG island lncRNA	7 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:86113800-86116800	Active TSS	Left Ventricle	heart
2	chr2:86114000-86117200	Active TSS	Lung	lung
3	chr2:86114000-86117800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
4	chr2:86114200-86116800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr2:86114200-86117400	Active TSS	Psoas Muscle	Psoas
6	chr2:86114200-86117800	Active TSS	Brain Angular Gyrus	brain
7	chr2:86114200-86117800	Active TSS	Right Atrium	heart
8	chr2:86114600-86117200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr2:86114600-86117200	Active TSS	Thymus	Thymus
10	chr2:86114600-86117400	Active TSS	Ovary	ovary
11	chr2:86114800-86116600	Active TSS	Esophagus	oesophagus
12	chr2:86114800-86117400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr2:86114800-86117600	Active TSS	Brain Substantia Nigra	brain
14	chr2:86114800-86117800	Active TSS	Brain Cingulate Gyrus	brain
15	chr2:86114800-86117800	Active TSS	Pancreatic Islets	Pancreatic Islet
16	chr2:86115000-86116600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
17	chr2:86115000-86116600	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
18	chr2:86115000-86116600	Active TSS	Primary T killer memory cells from peripheral blood	blood
19	chr2:86115000-86116600	Active TSS	Fetal Brain Male	brain
20	chr2:86115000-86116600	Active TSS	Fetal Brain Female	brain
21	chr2:86115000-86116600	Active TSS	Stomach Smooth Muscle	stomach
22	chr2:86115000-86116800	Active TSS	Primary T helper naive cells from peripheral blood	blood
23	chr2:86115000-86116800	Active TSS	Primary T killer naive cells fromperipheralblood	blood
24	chr2:86115000-86117000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr2:86115000-86117000	Active TSS	Sigmoid Colon	Sigmoid Colon
26	chr2:86115000-86117000	Active TSS	A549	lung
27	chr2:86115000-86117200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
28	chr2:86115000-86117200	Active TSS	Aorta	Aorta
29	chr2:86115000-86117200	Active TSS	Brain Anterior Caudate	brain
30	chr2:86115000-86117600	Active TSS	Brain Inferior Temporal Lobe	brain
31	chr2:86115200-86116600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr2:86115200-86116600	Active TSS	Brain Germinal Matrix	brain
33	chr2:86115200-86116800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr2:86115200-86116800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr2:86115200-86117000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
36	chr2:86115200-86117000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
37	chr2:86115200-86117000	Active TSS	Fetal Kidney	kidney
38	chr2:86115200-86117200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
39	chr2:86115200-86117200	Active TSS	Duodenum Smooth Muscle	Duodenum
40	chr2:86115200-86117200	Active TSS	Small Intestine	intestine
41	chr2:86115200-86117200	Active TSS	Stomach Mucosa	stomach
42	chr2:86115200-86117400	Active TSS	Gastric	stomach
43	chr2:86115400-86116400	Active TSS	Duodenum Mucosa	Duodenum
44	chr2:86115400-86116400	Active TSS	HSMMtube	muscle
45	chr2:86115400-86116400	Active TSS	Osteobl	bone
46	chr2:86115400-86116600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr2:86115400-86116600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
48	chr2:86115400-86116600	Active TSS	Primary T helper cells PMA-I stimulated	--
49	chr2:86115400-86116800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr2:86115400-86116800	Active TSS	H9 Cell Line	embryonic stem cell

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