Variant report

Variant	rs557966118
Chromosome Location	chr2:86115742-86115743
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	BACH1	chr2:86115450-86116003	H1-hESC	embryonic stem cell:	n/a	n/a
4	SIN3A	chr2:86114635-86117010	H1-hESC	embryonic stem cell:	n/a	chr2:86114867-86114875 chr2:86115823-86115836 chr2:86115856-86115867
5	CCNT2	chr2:86115672-86116496	K562	blood:	n/a	n/a
6	YY1	chr2:86115738-86116369	K562	blood:	n/a	chr2:86115817-86115831 chr2:86115888-86115899
7	POLR2A	chr2:86115705-86116420	H1-neurons	neurons:	n/a	n/a
8	CTCF	chr2:86115600-86115750	GM06990	blood:	n/a	n/a
9	MXI1	chr2:86112995-86117346	IMR90	lung:	n/a	n/a
10	MAX	chr2:86113503-86115849	A549	lung:	n/a	n/a
11	SIN3A	chr2:86114625-86115812	GM12878	blood:	n/a	chr2:86114867-86114875
12	MAX	chr2:86115582-86117073	K562	blood:	n/a	chr2:86116152-86116161 chr2:86115924-86115934
13	GATA3	chr2:86114573-86117350	A549	lung:	n/a	chr2:86114618-86114629 chr2:86116346-86116356 chr2:86115122-86115129
14	HMGN3	chr2:86115197-86116654	K562	blood:	n/a	n/a
15	CREB1	chr2:86115686-86116680	GM12878	blood:	n/a	chr2:86116164-86116177
16	CREB1	chr2:86115684-86116521	A549	lung:	n/a	chr2:86116164-86116177
17	EBF1	chr2:86115721-86116101	GM12878	blood:	n/a	n/a
18	YY1	chr2:86115627-86116538	HepG2	liver:	n/a	chr2:86115817-86115831 chr2:86115888-86115899
19	MAX	chr2:86114642-86116715	HepG2	liver:	n/a	chr2:86116152-86116161 chr2:86115924-86115934
20	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
21	HDAC2	chr2:86115725-86116494	HepG2	liver:	n/a	chr2:86116152-86116161
22	ZNF143	chr2:86115620-86116444	H1-hESC	embryonic stem cell:	n/a	chr2:86115889-86115907 chr2:86115776-86115786
23	CTBP2	chr2:86115432-86116604	H1-hESC	embryonic stem cell:	n/a	n/a
24	ZBTB7A	chr2:86115379-86116676	ECC-1	luminal epithelium:	n/a	chr2:86116281-86116290 chr2:86115907-86115915
25	ZBTB7A	chr2:86115553-86116545	K562	blood:	n/a	chr2:86116281-86116290 chr2:86115907-86115915
26	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
27	CREB1	chr2:86115669-86116732	HepG2	liver:	n/a	chr2:86116164-86116177
28	FOXA2	chr2:86115663-86116904	A549	lung:	n/a	n/a
29	POLR2A	chr2:86115713-86116647	HUVEC	blood vessel:	n/a	n/a
30	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
31	ZBTB7A	chr2:86115681-86116460	HepG2	liver:	n/a	chr2:86116281-86116290 chr2:86115907-86115915
32	ZBTB7A	chr2:86115465-86116425	K562	blood:	n/a	chr2:86116281-86116290 chr2:86115907-86115915
33	RCOR1	chr2:86115340-86116881	K562	blood:	n/a	n/a
34	MAZ	chr2:86115419-86116942	GM12878	blood:	n/a	chr2:86116152-86116161 chr2:86115924-86115934
35	CTCF	chr2:86113541-86117024	A549	lung:	n/a	chr2:86116282-86116295 chr2:86114925-86114943 chr2:86114928-86114941 chr2:86114927-86114948 chr2:86116280-86116298 chr2:86114314-86114322 chr2:86114930-86114940
36	MAX	chr2:86112960-86118329	A549	lung:	n/a	chr2:86116152-86116161 chr2:86115924-86115934
37	CTCF	chr2:86115740-86115890	HCT-116	colon:	n/a	n/a
38	POLR2A	chr2:86115662-86116354	A549	lung:	n/a	n/a
39	ZBTB7A	chr2:86115404-86116574	ECC-1	luminal epithelium:	n/a	chr2:86116281-86116290 chr2:86115907-86115915
40	CTCF	chr2:86115725-86116425	K562	blood:	n/a	chr2:86116282-86116295 chr2:86116280-86116298
41	PAX5	chr2:86115679-86116491	GM12892	blood:	n/a	chr2:86116346-86116355
42	CTCF	chr2:86115680-86115970	AoAF	blood vessel:	n/a	n/a
43	CTCF	chr2:86115726-86116112	K562	blood:	n/a	n/a
44	FOSL2	chr2:86114871-86115759	A549	lung:	n/a	n/a
45	SIN3AK20	chr2:86115700-86116390	PANC-1	pancreas:	n/a	n/a
46	RAD21	chr2:86115742-86116512	HepG2	liver:	n/a	chr2:86116109-86116122 chr2:86116282-86116296 chr2:86116278-86116297 chr2:86116271-86116285 chr2:86116282-86116292 chr2:86116281-86116294
47	POLR2A	chr2:86115696-86116342	A549	lung:	n/a	n/a
48	RAD21	chr2:86115708-86116919	A549	lung:	n/a	chr2:86116109-86116122 chr2:86116282-86116296 chr2:86116278-86116297 chr2:86116271-86116285 chr2:86116282-86116292 chr2:86116281-86116294
49	CTCF	chr2:86115724-86116496	H1-hESC	embryonic stem cell:	n/a	chr2:86116282-86116295 chr2:86116280-86116298
50	CTCF	chr2:86115736-86116655	IMR90	lung:	n/a	chr2:86116282-86116295 chr2:86116280-86116298

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:86115700-86115750	HL-60	blood:	n/a
2	chr2:86115700-86115750	AG09319	gingival:	n/a
3	chr2:86115700-86115750	GM12892	blood:	n/a
4	chr2:86115700-86115750	SK-N-SH	brain:	n/a
5	chr2:86115700-86115750	MCF10A-Er-Src	breast:	n/a
6	chr2:86115700-86115750	IMR90	lung:	fetal
7	chr2:86115700-86115750	HCM	heart:	n/a
8	chr2:86115700-86115750	AG04450	lung:	fetal
9	chr2:86115700-86115750	K562	blood:	n/a
10	chr2:86115700-86115750	Jurkat	blood:	n/a
11	chr2:86115700-86115750	NH-A	brain:	n/a
12	chr2:86115700-86115750	Hela-S3	cervix:	n/a
13	chr2:86115700-86115750	HEEpiC	esophagus:	n/a
14	chr2:86115700-86115750	HCF	heart:	n/a
15	chr2:86115700-86115750	HRPEpiC	eye:	n/a
16	chr2:86115700-86115750	NHBE	bronchial:	n/a
17	chr2:86115700-86115750	NHDF-neo	bronchial:	n/a
18	chr2:86115700-86115750	SK-N-SH_RA	brain:	n/a
19	chr2:86115700-86115750	U87	brain:	n/a
20	chr2:86115700-86115750	HCPEpiC	choroid plexus:	n/a
21	chr2:86115700-86115750	CMK	blood:	n/a
22	chr2:86115700-86115750	GM12891	blood:	n/a
23	chr2:86115700-86115750	HCT-116	colon:	n/a
24	chr2:86115700-86115750	ECC-1	luminal epithelium:	n/a
25	chr2:86115700-86115750	AoSMC	blood vessel:	n/a
26	chr2:86115700-86115750	MCF-7	breast:	n/a
27	chr2:86115700-86115750	ProgFib	skin:	n/a
28	chr2:86115700-86115750	Hepatocyte	liver:	n/a
29	chr2:86115700-86115750	ovcar-3	ovarian:	n/a
30	chr2:86115700-86115750	T-47D	breast:	n/a
31	chr2:86115700-86115750	SK-N-MC	brain:	n/a
32	chr2:86115700-86115750	HRCEpiC	kidney:	n/a
33	chr2:86115700-86115750	HRE	kidney:	n/a
34	chr2:86115700-86115750	SAEC	small airway:	n/a
35	chr2:86115700-86115750	SKMC	muscle:	n/a
36	chr2:86115700-86115750	PFSK-1	brain:	n/a
37	chr2:86115700-86115750	AG09309	skin:	n/a
38	chr2:86115700-86115750	HPAEpiC	pulmonary alveolar:	n/a
39	chr2:86115700-86115750	NT2-D1	testis:	n/a
40	chr2:86115700-86115750	HAEpiC	amniotic membrane:	n/a
41	chr2:86115700-86115750	BE2_C	brain:	n/a
42	chr2:86115700-86115750	HepG2	liver:	n/a
43	chr2:86115700-86115750	A549	lung:	n/a
44	chr2:86115700-86115750	NB4	blood:	n/a
45	chr2:86115700-86115750	PANC-1	pancreas:	n/a
46	chr2:86115700-86115750	HMEC	breast:	n/a
47	chr2:86115700-86115750	PrEC	prostate:	n/a
48	chr2:86115700-86115750	H1-hESC	embryonic stem cell:	embryo
49	chr2:86115700-86115750	AG04449	skin:	fetal
50	chr2:86115700-86115750	Caco-2	colon:	n/a

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

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	chr2:86113600-86115800	Flanking Active TSS	NH-A	brain
2	chr2:86113800-86115800	Flanking Active TSS	Adipose Nuclei	Adipose
3	chr2:86113800-86115800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
4	chr2:86113800-86115800	Flanking Active TSS	HMEC	breast
5	chr2:86113800-86116800	Active TSS	Left Ventricle	heart
6	chr2:86114000-86115800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
7	chr2:86114000-86115800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
8	chr2:86114000-86115800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
9	chr2:86114000-86115800	Flanking Active TSS	NHLF	lung
10	chr2:86114000-86117200	Active TSS	Lung	lung
11	chr2:86114000-86117800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
12	chr2:86114200-86116800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr2:86114200-86117400	Active TSS	Psoas Muscle	Psoas
14	chr2:86114200-86117800	Active TSS	Brain Angular Gyrus	brain
15	chr2:86114200-86117800	Active TSS	Right Atrium	heart
16	chr2:86114400-86115800	Flanking Active TSS	Primary B cells from cord blood	blood
17	chr2:86114600-86115800	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr2:86114600-86115800	Flanking Active TSS	Primary hematopoietic stem cells	blood
19	chr2:86114600-86115800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
20	chr2:86114600-86116000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
21	chr2:86114600-86117200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr2:86114600-86117200	Active TSS	Thymus	Thymus
23	chr2:86114600-86117400	Active TSS	Ovary	ovary
24	chr2:86114800-86115800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr2:86114800-86115800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr2:86114800-86115800	Flanking Active TSS	Placenta	Placenta
27	chr2:86114800-86115800	Flanking Active TSS	HUVEC	blood vessel
28	chr2:86114800-86116600	Active TSS	Esophagus	oesophagus
29	chr2:86114800-86117400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr2:86114800-86117600	Active TSS	Brain Substantia Nigra	brain
31	chr2:86114800-86117800	Active TSS	Brain Cingulate Gyrus	brain
32	chr2:86114800-86117800	Active TSS	Pancreatic Islets	Pancreatic Islet
33	chr2:86115000-86115800	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
34	chr2:86115000-86116600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
35	chr2:86115000-86116600	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
36	chr2:86115000-86116600	Active TSS	Primary T killer memory cells from peripheral blood	blood
37	chr2:86115000-86116600	Active TSS	Fetal Brain Male	brain
38	chr2:86115000-86116600	Active TSS	Fetal Brain Female	brain
39	chr2:86115000-86116600	Active TSS	Stomach Smooth Muscle	stomach
40	chr2:86115000-86116800	Active TSS	Primary T helper naive cells from peripheral blood	blood
41	chr2:86115000-86116800	Active TSS	Primary T killer naive cells fromperipheralblood	blood
42	chr2:86115000-86117000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr2:86115000-86117000	Active TSS	Sigmoid Colon	Sigmoid Colon
44	chr2:86115000-86117000	Active TSS	A549	lung
45	chr2:86115000-86117200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
46	chr2:86115000-86117200	Active TSS	Aorta	Aorta
47	chr2:86115000-86117200	Active TSS	Brain Anterior Caudate	brain
48	chr2:86115000-86117600	Active TSS	Brain Inferior Temporal Lobe	brain
49	chr2:86115200-86115800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
50	chr2:86115200-86116600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood

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