Variant report

Variant	rs527419625
Chromosome Location	chr2:86115545-86115546
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	RCOR1	chr2:86115492-86115588	GM12878	blood:	n/a	n/a
2	BACH1	chr2:86115450-86116003	H1-hESC	embryonic stem cell:	n/a	n/a
3	SIN3A	chr2:86114635-86117010	H1-hESC	embryonic stem cell:	n/a	chr2:86114867-86114875 chr2:86115823-86115836 chr2:86115856-86115867
4	MXI1	chr2:86112995-86117346	IMR90	lung:	n/a	n/a
5	CHD1	chr2:86115508-86115697	H1-hESC	embryonic stem cell:	n/a	n/a
6	MAX	chr2:86113503-86115849	A549	lung:	n/a	n/a
7	SIN3A	chr2:86114625-86115812	GM12878	blood:	n/a	chr2:86114867-86114875
8	GATA3	chr2:86114573-86117350	A549	lung:	n/a	chr2:86114618-86114629 chr2:86116346-86116356 chr2:86115122-86115129
9	HMGN3	chr2:86115197-86116654	K562	blood:	n/a	n/a
10	SP1	chr2:86114585-86115740	A549	lung:	n/a	chr2:86115706-86115720 chr2:86114907-86114920 chr2:86115705-86115717
11	MAX	chr2:86114642-86116715	HepG2	liver:	n/a	chr2:86116152-86116161 chr2:86115924-86115934
12	STAT1	chr2:86115340-86115574	GM12878	blood:	n/a	n/a
13	CTBP2	chr2:86115432-86116604	H1-hESC	embryonic stem cell:	n/a	n/a
14	ZBTB7A	chr2:86115379-86116676	ECC-1	luminal epithelium:	n/a	chr2:86116281-86116290 chr2:86115907-86115915
15	E2F6	chr2:86114613-86115691	A549	lung:	n/a	chr2:86115187-86115197 chr2:86115659-86115674 chr2:86115417-86115428 chr2:86115414-86115431
16	CTCF	chr2:86115440-86115590	A549	lung:	n/a	n/a
17	MTA3	chr2:86114558-86115571	GM12878	blood:	n/a	n/a
18	RCOR1	chr2:86115444-86115595	K562	blood:	n/a	n/a
19	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
20	ZBTB7A	chr2:86115465-86116425	K562	blood:	n/a	chr2:86116281-86116290 chr2:86115907-86115915
21	RCOR1	chr2:86115340-86116881	K562	blood:	n/a	n/a
22	REST	chr2:86114413-86115628	A549	lung:	n/a	n/a
23	POLR2A	chr2:86114521-86115604	H1-neurons	neurons:	n/a	n/a
24	MAZ	chr2:86115419-86116942	GM12878	blood:	n/a	chr2:86116152-86116161 chr2:86115924-86115934
25	WRNIP1	chr2:86113446-86115563	GM12878	blood:	n/a	n/a
26	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
27	MAX	chr2:86112960-86118329	A549	lung:	n/a	chr2:86116152-86116161 chr2:86115924-86115934
28	ZBTB7A	chr2:86115404-86116574	ECC-1	luminal epithelium:	n/a	chr2:86116281-86116290 chr2:86115907-86115915
29	TBL1XR1	chr2:86114987-86115687	GM12878	blood:	n/a	n/a
30	TCF12	chr2:86113629-86115662	A549	lung:	n/a	chr2:86115492-86115502
31	FOSL2	chr2:86114871-86115759	A549	lung:	n/a	n/a
32	ELF1	chr2:86115250-86116606	GM12878	blood:	n/a	n/a
33	ZEB1	chr2:86115529-86116486	GM12878	blood:	n/a	n/a
34	RUNX3	chr2:86114534-86115679	GM12878	blood:	n/a	chr2:86114790-86114799 chr2:86114790-86114799
35	RCOR1	chr2:86115432-86115552	HepG2	liver:	n/a	n/a
36	POLR2A	chr2:86114566-86116494	H1-neurons	neurons:	n/a	n/a
37	MXI1	chr2:86115441-86115551	K562	blood:	n/a	n/a
38	ZNF263	chr2:86113413-86115552	HEK293-T-REx	kidney:	n/a	n/a
39	MXI1	chr2:86114442-86117314	SK-N-SH	brain:	n/a	n/a
40	CTCF	chr2:86115541-86117029	SK-N-SH	brain:	n/a	chr2:86116282-86116295 chr2:86116280-86116298
41	MAZ	chr2:86115094-86117105	IMR90	lung:	n/a	chr2:86116152-86116161 chr2:86115924-86115934
42	RAD21	chr2:86114766-86115578	IMR90	lung:	n/a	chr2:86114926-86114945 chr2:86114984-86114998 chr2:86114929-86114942 chr2:86114931-86114941 chr2:86114930-86114939
43	REST	chr2:86114368-86116645	H1-neurons	neurons:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:86115509-86115559	Hela-S3	cervix:	n/a
2	chr2:86115509-86115559	HRCEpiC	kidney:	n/a
3	chr2:86115509-86115559	K562	blood:	n/a
4	chr2:86115509-86115559	HPAEpiC	pulmonary alveolar:	n/a
5	chr2:86115509-86115559	HRPEpiC	eye:	n/a
6	chr2:86115509-86115559	CMK	blood:	n/a
7	chr2:86115509-86115559	HCT-116	colon:	n/a
8	chr2:86115509-86115559	HCF	heart:	n/a
9	chr2:86115509-86115559	HepG2	liver:	n/a
10	chr2:86115509-86115559	HAEpiC	amniotic membrane:	n/a
11	chr2:86115509-86115559	AoSMC	blood vessel:	n/a
12	chr2:86115509-86115559	BE2_C	brain:	n/a
13	chr2:86115509-86115559	HL-60	blood:	n/a
14	chr2:86115509-86115559	GM19239	blood:	n/a
15	chr2:86115509-86115559	HUVEC	blood vessel:	n/a
16	chr2:86115509-86115559	GM12891	blood:	n/a
17	chr2:86115509-86115559	HNPCEpiC	eye:	n/a
18	chr2:86115509-86115559	MCF-7	breast:	n/a
19	chr2:86115509-86115559	HIPEpiC	eye:	n/a
20	chr2:86115509-86115559	HEK293	kidney:	embryo
21	chr2:86115509-86115559	SK-N-SH	brain:	n/a
22	chr2:86115509-86115559	ovcar-3	ovarian:	n/a
23	chr2:86115509-86115559	NHDF-neo	bronchial:	n/a
24	chr2:86115509-86115559	Jurkat	blood:	n/a
25	chr2:86115509-86115559	A549	lung:	n/a
26	chr2:86115509-86115559	ProgFib	skin:	n/a
27	chr2:86115509-86115559	PANC-1	pancreas:	n/a
28	chr2:86115509-86115559	BJ	skin:	n/a
29	chr2:86115509-86115559	T-47D	breast:	n/a
30	chr2:86115509-86115559	AG10803	skin:	n/a
31	chr2:86115509-86115559	GM06990	blood:	n/a
32	chr2:86115509-86115559	HCM	heart:	n/a
33	chr2:86115509-86115559	H1-hESC	embryonic stem cell:	embryo
34	chr2:86115509-86115559	NH-A	brain:	n/a
35	chr2:86115509-86115559	SK-N-SH_RA	brain:	n/a
36	chr2:86115509-86115559	PrEC	prostate:	n/a
37	chr2:86115509-86115559	HRE	kidney:	n/a
38	chr2:86115509-86115559	NB4	blood:	n/a
39	chr2:86115509-86115559	GM12892	blood:	n/a
40	chr2:86115509-86115559	HMEC	breast:	n/a
41	chr2:86115509-86115559	SAEC	small airway:	n/a
42	chr2:86115509-86115559	IMR90	lung:	fetal
43	chr2:86115509-86115559	AG09319	gingival:	n/a
44	chr2:86115509-86115559	SK-N-MC	brain:	n/a
45	chr2:86115509-86115559	LNCaP	prostate:	n/a
46	chr2:86115509-86115559	GM12878	blood:	n/a
47	chr2:86115509-86115559	U87	brain:	n/a
48	chr2:86115509-86115559	RPTEC	kidney:	n/a
49	chr2:86115509-86115559	MCF10A-Er-Src	breast:	n/a
50	chr2:86115509-86115559	NT2-D1	testis:	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	chr2:86113000-86115600	Flanking Active TSS	Dnd41	blood
2	chr2:86113400-86115600	Flanking Active TSS	HSMM	muscle
3	chr2:86113600-86115600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr2:86113600-86115600	Flanking Active TSS	Fetal Thymus	thymus
5	chr2:86113600-86115600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
6	chr2:86113600-86115800	Flanking Active TSS	NH-A	brain
7	chr2:86113800-86115600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr2:86113800-86115600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr2:86113800-86115600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr2:86113800-86115600	Flanking Active TSS	Fetal Muscle Leg	muscle
11	chr2:86113800-86115600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
12	chr2:86113800-86115800	Flanking Active TSS	Adipose Nuclei	Adipose
13	chr2:86113800-86115800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
14	chr2:86113800-86115800	Flanking Active TSS	HMEC	breast
15	chr2:86113800-86116800	Active TSS	Left Ventricle	heart
16	chr2:86114000-86115600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr2:86114000-86115600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
18	chr2:86114000-86115600	Flanking Active TSS	K562	blood
19	chr2:86114000-86115800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
20	chr2:86114000-86115800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
21	chr2:86114000-86115800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
22	chr2:86114000-86115800	Flanking Active TSS	NHLF	lung
23	chr2:86114000-86117200	Active TSS	Lung	lung
24	chr2:86114000-86117800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
25	chr2:86114200-86115600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
26	chr2:86114200-86116800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr2:86114200-86117400	Active TSS	Psoas Muscle	Psoas
28	chr2:86114200-86117800	Active TSS	Brain Angular Gyrus	brain
29	chr2:86114200-86117800	Active TSS	Right Atrium	heart
30	chr2:86114400-86115600	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr2:86114400-86115600	Flanking Bivalent TSS/Enh	GM12878-XiMat	blood
32	chr2:86114400-86115800	Flanking Active TSS	Primary B cells from cord blood	blood
33	chr2:86114600-86115600	Flanking Active TSS	Primary B cells from peripheral blood	blood
34	chr2:86114600-86115600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
35	chr2:86114600-86115600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
36	chr2:86114600-86115600	Flanking Active TSS	Liver	Liver
37	chr2:86114600-86115600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
38	chr2:86114600-86115600	Flanking Active TSS	Fetal Stomach	stomach
39	chr2:86114600-86115600	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 29	rectum
40	chr2:86114600-86115800	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr2:86114600-86115800	Flanking Active TSS	Primary hematopoietic stem cells	blood
42	chr2:86114600-86115800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
43	chr2:86114600-86116000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
44	chr2:86114600-86117200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr2:86114600-86117200	Active TSS	Thymus	Thymus
46	chr2:86114600-86117400	Active TSS	Ovary	ovary
47	chr2:86114800-86115600	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr2:86114800-86115600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
49	chr2:86114800-86115600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
50	chr2:86114800-86115600	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine

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