Variant report

Variant	rs59317756
Chromosome Location	chr2:86115214-86115215
allele	A/C
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	SMC3	chr2:86114657-86115409	GM12878	blood:	n/a	chr2:86114927-86114941
2	SIN3A	chr2:86114635-86117010	H1-hESC	embryonic stem cell:	n/a	chr2:86114867-86114875 chr2:86115823-86115836 chr2:86115856-86115867
3	MAX	chr2:86114655-86115474	A549	lung:	n/a	n/a
4	MXI1	chr2:86112995-86117346	IMR90	lung:	n/a	n/a
5	BHLHE40	chr2:86114745-86115454	K562	blood:	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	POLR2A	chr2:86114531-86115428	IMR90	lung:	n/a	n/a
9	GATA3	chr2:86114573-86117350	A549	lung:	n/a	chr2:86114618-86114629 chr2:86116346-86116356 chr2:86115122-86115129
10	HMGN3	chr2:86115197-86116654	K562	blood:	n/a	n/a
11	BHLHE40	chr2:86114726-86115343	GM12878	blood:	n/a	n/a
12	YY1	chr2:86114703-86115369	GM12878	blood:	n/a	n/a
13	CTCF	chr2:86115080-86115230	HFF-Myc	foreskin:	n/a	n/a
14	SP1	chr2:86114585-86115740	A549	lung:	n/a	chr2:86115706-86115720 chr2:86114907-86114920 chr2:86115705-86115717
15	MAX	chr2:86114642-86116715	HepG2	liver:	n/a	chr2:86116152-86116161 chr2:86115924-86115934
16	MAX	chr2:86114669-86115342	HepG2	liver:	n/a	n/a
17	E2F6	chr2:86114613-86115691	A549	lung:	n/a	chr2:86115187-86115197 chr2:86115659-86115674 chr2:86115417-86115428 chr2:86115414-86115431
18	MTA3	chr2:86114558-86115571	GM12878	blood:	n/a	n/a
19	MAX	chr2:86114717-86115461	GM12878	blood:	n/a	n/a
20	MAX	chr2:86114663-86115468	SK-N-SH	brain:	n/a	n/a
21	RAD21	chr2:86114634-86115264	A549	lung:	n/a	chr2:86114926-86114945 chr2:86114984-86114998 chr2:86114929-86114942 chr2:86114931-86114941 chr2:86114930-86114939
22	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
23	E2F6	chr2:86114734-86115268	A549	lung:	n/a	chr2:86115187-86115197
24	EBF1	chr2:86114425-86115248	GM12878	blood:	n/a	n/a
25	REST	chr2:86114413-86115628	A549	lung:	n/a	n/a
26	MAX	chr2:86114580-86115529	HCT-116	colon:	n/a	n/a
27	POLR2A	chr2:86114521-86115604	H1-neurons	neurons:	n/a	n/a
28	WRNIP1	chr2:86113446-86115563	GM12878	blood:	n/a	n/a
29	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
30	MAX	chr2:86112960-86118329	A549	lung:	n/a	chr2:86116152-86116161 chr2:86115924-86115934
31	CHD1	chr2:86114892-86115500	GM12878	blood:	n/a	n/a
32	CTCF	chr2:86115200-86115350	AG10803	skin:	n/a	n/a
33	TBL1XR1	chr2:86114987-86115687	GM12878	blood:	n/a	n/a
34	TCF12	chr2:86113629-86115662	A549	lung:	n/a	chr2:86115492-86115502
35	FOSL2	chr2:86114871-86115759	A549	lung:	n/a	n/a
36	SIN3AK20	chr2:86114514-86115490	A549	lung:	n/a	n/a
37	PML	chr2:86114584-86115483	GM12878	blood:	n/a	n/a
38	MAX	chr2:86114632-86115513	MCF-7	breast:	n/a	n/a
39	MAX	chr2:86114567-86115375	NB4	blood:	n/a	n/a
40	RUNX3	chr2:86114534-86115679	GM12878	blood:	n/a	chr2:86114790-86114799 chr2:86114790-86114799
41	YY1	chr2:86114685-86115319	GM12878	blood:	n/a	n/a
42	RUNX3	chr2:86114593-86115378	GM12878	blood:	n/a	chr2:86114790-86114799 chr2:86114790-86114799
43	POLR2A	chr2:86114566-86116494	H1-neurons	neurons:	n/a	n/a
44	ZNF263	chr2:86113413-86115552	HEK293-T-REx	kidney:	n/a	n/a
45	MXI1	chr2:86114442-86117314	SK-N-SH	brain:	n/a	n/a
46	MAX	chr2:86114579-86115433	SK-N-SH	brain:	n/a	n/a
47	REST	chr2:86114911-86115248	A549	lung:	n/a	n/a
48	MAZ	chr2:86115094-86117105	IMR90	lung:	n/a	chr2:86116152-86116161 chr2:86115924-86115934
49	MXI1	chr2:86114250-86115503	GM12878	blood:	n/a	n/a
50	RAD21	chr2:86114766-86115578	IMR90	lung:	n/a	chr2:86114926-86114945 chr2:86114984-86114998 chr2:86114929-86114942 chr2:86114931-86114941 chr2:86114930-86114939

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

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs1000374	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10166563	0.84[ASN][1000 genomes]
rs10194524	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs11673740	1.00[AFR][1000 genomes]
rs11674097	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11674128	1.00[AFR][1000 genomes]
rs11674537	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11674561	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11675032	1.00[AFR][1000 genomes]
rs11677643	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11679818	1.00[AFR][1000 genomes]
rs11680472	1.00[AFR][1000 genomes]
rs11681094	1.00[AFR][1000 genomes]
rs11681915	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11682180	1.00[AFR][1000 genomes]
rs11682653	1.00[AFR][1000 genomes]
rs11683378	1.00[AFR][1000 genomes]
rs11683466	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11689889	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11690193	1.00[AFR][1000 genomes]
rs11690888	1.00[AFR][1000 genomes]
rs11694341	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12714155	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1469983	1.00[AFR][1000 genomes]
rs1808822	1.00[AFR][1000 genomes]
rs1814422	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2083169	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2218037	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2280313	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2366951	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs2366954	1.00[AFR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2577783	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2679723	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2679724	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs2886821	1.00[AFR][1000 genomes]
rs3770092	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4240203	1.00[AFR][1000 genomes]
rs4832224	1.00[AFR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4832225	0.83[EUR][1000 genomes]
rs57187218	1.00[AFR][1000 genomes]
rs57648087	1.00[AFR][1000 genomes]
rs58315750	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58383548	1.00[AFR][1000 genomes]
rs58829348	1.00[AFR][1000 genomes]
rs59500769	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59757945	0.98[ASN][1000 genomes]
rs60313984	0.98[ASN][1000 genomes]
rs6547645	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6547648	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6748083	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs893443	1.00[AFR][1000 genomes]
rs893444	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]

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:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:86113000-86115400	Flanking Active TSS	Brain Hippocampus Middle	brain
2	chr2:86113000-86115600	Flanking Active TSS	Dnd41	blood
3	chr2:86113400-86115600	Flanking Active TSS	HSMM	muscle
4	chr2:86113600-86115600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr2:86113600-86115600	Flanking Active TSS	Fetal Thymus	thymus
6	chr2:86113600-86115600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
7	chr2:86113600-86115800	Flanking Active TSS	NH-A	brain
8	chr2:86113800-86115400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr2:86113800-86115400	Flanking Active TSS	Rectal Smooth Muscle	rectum
10	chr2:86113800-86115400	Flanking Active TSS	HSMMtube	muscle
11	chr2:86113800-86115400	Flanking Active TSS	NHEK	skin
12	chr2:86113800-86115600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr2:86113800-86115600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr2:86113800-86115600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr2:86113800-86115600	Flanking Active TSS	Fetal Muscle Leg	muscle
16	chr2:86113800-86115600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
17	chr2:86113800-86115800	Flanking Active TSS	Adipose Nuclei	Adipose
18	chr2:86113800-86115800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
19	chr2:86113800-86115800	Flanking Active TSS	HMEC	breast
20	chr2:86113800-86116800	Active TSS	Left Ventricle	heart
21	chr2:86114000-86115400	Flanking Active TSS	NHDF-Ad	bronchial
22	chr2:86114000-86115400	Flanking Active TSS	Osteobl	bone
23	chr2:86114000-86115600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr2:86114000-86115600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
25	chr2:86114000-86115600	Flanking Active TSS	K562	blood
26	chr2:86114000-86115800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
27	chr2:86114000-86115800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
28	chr2:86114000-86115800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
29	chr2:86114000-86115800	Flanking Active TSS	NHLF	lung
30	chr2:86114000-86117200	Active TSS	Lung	lung
31	chr2:86114000-86117800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
32	chr2:86114200-86115600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
33	chr2:86114200-86116800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr2:86114200-86117400	Active TSS	Psoas Muscle	Psoas
35	chr2:86114200-86117800	Active TSS	Brain Angular Gyrus	brain
36	chr2:86114200-86117800	Active TSS	Right Atrium	heart
37	chr2:86114400-86115600	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr2:86114400-86115600	Flanking Bivalent TSS/Enh	GM12878-XiMat	blood
39	chr2:86114400-86115800	Flanking Active TSS	Primary B cells from cord blood	blood
40	chr2:86114600-86115400	Flanking Active TSS	Duodenum Mucosa	Duodenum
41	chr2:86114600-86115400	Enhancers	Fetal Heart	heart
42	chr2:86114600-86115400	Flanking Active TSS	Pancreas	Pancrea
43	chr2:86114600-86115600	Flanking Active TSS	Primary B cells from peripheral blood	blood
44	chr2:86114600-86115600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
45	chr2:86114600-86115600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
46	chr2:86114600-86115600	Flanking Active TSS	Liver	Liver
47	chr2:86114600-86115600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
48	chr2:86114600-86115600	Flanking Active TSS	Fetal Stomach	stomach
49	chr2:86114600-86115600	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 29	rectum
50	chr2:86114600-86115800	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived

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