Variant report

Variant	rs544036585
Chromosome Location	chr2:86115808-86115809
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	POLR2A	chr2:86115632-86116606	MCF-7	breast:	n/a	n/a
2	CREB1	chr2:86115731-86116496	H1-hESC	embryonic stem cell:	n/a	chr2:86116164-86116177
3	CTCF	chr2:86115800-86115950	HCPEpiC	choroid plexus:	n/a	n/a
4	BACH1	chr2:86115450-86116003	H1-hESC	embryonic stem cell:	n/a	n/a
5	SIN3A	chr2:86114635-86117010	H1-hESC	embryonic stem cell:	n/a	chr2:86114867-86114875 chr2:86115823-86115836 chr2:86115856-86115867
6	CCNT2	chr2:86115672-86116496	K562	blood:	n/a	n/a
7	YY1	chr2:86115738-86116369	K562	blood:	n/a	chr2:86115817-86115831 chr2:86115888-86115899
8	POLR2A	chr2:86115705-86116420	H1-neurons	neurons:	n/a	n/a
9	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
10	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
11	MXI1	chr2:86112995-86117346	IMR90	lung:	n/a	n/a
12	ELF1	chr2:86115757-86116373	K562	blood:	n/a	n/a
13	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
14	MAX	chr2:86113503-86115849	A549	lung:	n/a	n/a
15	CTCF	chr2:86115760-86116403	H1-hESC	embryonic stem cell:	n/a	chr2:86116282-86116295 chr2:86116280-86116298
16	SIN3A	chr2:86114625-86115812	GM12878	blood:	n/a	chr2:86114867-86114875
17	MAX	chr2:86115582-86117073	K562	blood:	n/a	chr2:86116152-86116161 chr2:86115924-86115934
18	GATA3	chr2:86114573-86117350	A549	lung:	n/a	chr2:86114618-86114629 chr2:86116346-86116356 chr2:86115122-86115129
19	HMGN3	chr2:86115197-86116654	K562	blood:	n/a	n/a
20	CREB1	chr2:86115686-86116680	GM12878	blood:	n/a	chr2:86116164-86116177
21	CREB1	chr2:86115804-86116473	K562	blood:	n/a	chr2:86116164-86116177
22	CREB1	chr2:86115684-86116521	A549	lung:	n/a	chr2:86116164-86116177
23	ZNF143	chr2:86115803-86116585	GM12878	blood:	n/a	chr2:86115889-86115907
24	EBF1	chr2:86115721-86116101	GM12878	blood:	n/a	n/a
25	YY1	chr2:86115627-86116538	HepG2	liver:	n/a	chr2:86115817-86115831 chr2:86115888-86115899
26	SMC3	chr2:86115785-86116818	Hela-S3	cervix:	n/a	chr2:86116282-86116292 chr2:86116282-86116296
27	MAX	chr2:86114642-86116715	HepG2	liver:	n/a	chr2:86116152-86116161 chr2:86115924-86115934
28	CTCF	chr2:86115744-86116706	GM12878	blood:	n/a	chr2:86116282-86116295 chr2:86116280-86116298
29	RAD21	chr2:86115726-86116413	K562	blood:	n/a	chr2:86116109-86116122 chr2:86116282-86116296 chr2:86116278-86116297 chr2:86116271-86116285 chr2:86116282-86116292 chr2:86116281-86116294
30	HDAC2	chr2:86115725-86116494	HepG2	liver:	n/a	chr2:86116152-86116161
31	ZNF143	chr2:86115620-86116444	H1-hESC	embryonic stem cell:	n/a	chr2:86115889-86115907 chr2:86115776-86115786
32	CTBP2	chr2:86115432-86116604	H1-hESC	embryonic stem cell:	n/a	n/a
33	ZBTB7A	chr2:86115379-86116676	ECC-1	luminal epithelium:	n/a	chr2:86116281-86116290 chr2:86115907-86115915
34	ZBTB7A	chr2:86115553-86116545	K562	blood:	n/a	chr2:86116281-86116290 chr2:86115907-86115915
35	RAD21	chr2:86115687-86116540	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
36	CREB1	chr2:86115669-86116732	HepG2	liver:	n/a	chr2:86116164-86116177
37	FOXA2	chr2:86115663-86116904	A549	lung:	n/a	n/a
38	POLR2A	chr2:86115713-86116647	HUVEC	blood vessel:	n/a	n/a
39	E2F6	chr2:86114432-86116384	K562	blood:	n/a	chr2:86116165-86116174 chr2:86115187-86115197 chr2:86115659-86115674 chr2:86115417-86115428 chr2:86116122-86116131 chr2:86115414-86115431 chr2:86116187-86116196 chr2:86116167-86116176
40	ZBTB7A	chr2:86115681-86116460	HepG2	liver:	n/a	chr2:86116281-86116290 chr2:86115907-86115915
41	ZBTB7A	chr2:86115465-86116425	K562	blood:	n/a	chr2:86116281-86116290 chr2:86115907-86115915
42	BHLHE40	chr2:86115800-86116770	GM12878	blood:	n/a	chr2:86115890-86115906 chr2:86116109-86116125
43	EGR1	chr2:86115773-86116430	K562	blood:	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
44	RCOR1	chr2:86115340-86116881	K562	blood:	n/a	n/a
45	MAX	chr2:86115792-86116718	K562	blood:	n/a	chr2:86116152-86116161 chr2:86115924-86115934
46	RAD21	chr2:86115789-86116718	A549	lung:	n/a	chr2:86116109-86116122 chr2:86116282-86116296 chr2:86116278-86116297 chr2:86116271-86116285 chr2:86116282-86116292 chr2:86116281-86116294
47	ZBTB7A	chr2:86115747-86116008	HepG2	liver:	n/a	chr2:86115907-86115915
48	CTCF	chr2:86115780-86115930	HFF-Myc	foreskin:	n/a	n/a
49	CTCF	chr2:86115766-86116924	K562	blood:	n/a	chr2:86116282-86116295 chr2:86116280-86116298
50	MAZ	chr2:86115419-86116942	GM12878	blood:	n/a	chr2:86116152-86116161 chr2:86115924-86115934

Variant related genes	Relation type
ENSG00000232504	TF binding region
ST3GAL5	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	chr2:86114600-86116000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
9	chr2:86114600-86117200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr2:86114600-86117200	Active TSS	Thymus	Thymus
11	chr2:86114600-86117400	Active TSS	Ovary	ovary
12	chr2:86114800-86116600	Active TSS	Esophagus	oesophagus
13	chr2:86114800-86117400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr2:86114800-86117600	Active TSS	Brain Substantia Nigra	brain
15	chr2:86114800-86117800	Active TSS	Brain Cingulate Gyrus	brain
16	chr2:86114800-86117800	Active TSS	Pancreatic Islets	Pancreatic Islet
17	chr2:86115000-86116600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
18	chr2:86115000-86116600	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
19	chr2:86115000-86116600	Active TSS	Primary T killer memory cells from peripheral blood	blood
20	chr2:86115000-86116600	Active TSS	Fetal Brain Male	brain
21	chr2:86115000-86116600	Active TSS	Fetal Brain Female	brain
22	chr2:86115000-86116600	Active TSS	Stomach Smooth Muscle	stomach
23	chr2:86115000-86116800	Active TSS	Primary T helper naive cells from peripheral blood	blood
24	chr2:86115000-86116800	Active TSS	Primary T killer naive cells fromperipheralblood	blood
25	chr2:86115000-86117000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr2:86115000-86117000	Active TSS	Sigmoid Colon	Sigmoid Colon
27	chr2:86115000-86117000	Active TSS	A549	lung
28	chr2:86115000-86117200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
29	chr2:86115000-86117200	Active TSS	Aorta	Aorta
30	chr2:86115000-86117200	Active TSS	Brain Anterior Caudate	brain
31	chr2:86115000-86117600	Active TSS	Brain Inferior Temporal Lobe	brain
32	chr2:86115200-86116600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr2:86115200-86116600	Active TSS	Brain Germinal Matrix	brain
34	chr2:86115200-86116800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr2:86115200-86116800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr2:86115200-86117000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
37	chr2:86115200-86117000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
38	chr2:86115200-86117000	Active TSS	Fetal Kidney	kidney
39	chr2:86115200-86117200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
40	chr2:86115200-86117200	Active TSS	Duodenum Smooth Muscle	Duodenum
41	chr2:86115200-86117200	Active TSS	Small Intestine	intestine
42	chr2:86115200-86117200	Active TSS	Stomach Mucosa	stomach
43	chr2:86115200-86117400	Active TSS	Gastric	stomach
44	chr2:86115400-86116400	Active TSS	Duodenum Mucosa	Duodenum
45	chr2:86115400-86116400	Active TSS	HSMMtube	muscle
46	chr2:86115400-86116400	Active TSS	Osteobl	bone
47	chr2:86115400-86116600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr2:86115400-86116600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
49	chr2:86115400-86116600	Active TSS	Primary T helper cells PMA-I stimulated	--
50	chr2:86115400-86116800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived

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