Variant report

Variant	rs4832216
Chromosome Location	chr2:86117079-86117080
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	MYBL2	chr2:86116120-86117254	HepG2	liver:	n/a	n/a
2	REST	chr2:86116048-86117190	A549	lung:	n/a	n/a
3	MXI1	chr2:86112995-86117346	IMR90	lung:	n/a	n/a
4	GATA3	chr2:86114573-86117350	A549	lung:	n/a	chr2:86114618-86114629 chr2:86116346-86116356 chr2:86115122-86115129
5	GATA2	chr2:86116229-86117149	HUVEC	blood vessel:	n/a	chr2:86116346-86116356
6	PBX3	chr2:86116044-86117131	A549	lung:	n/a	chr2:86116188-86116197
7	CTCF	chr2:86117020-86117170	SAEC	small airway:	n/a	n/a
8	NR2F2	chr2:86116774-86117118	K562	blood:	n/a	n/a
9	MAX	chr2:86112960-86118329	A549	lung:	n/a	chr2:86116152-86116161 chr2:86115924-86115934
10	PBX3	chr2:86116038-86117147	A549	lung:	n/a	chr2:86116188-86116197
11	NR2F2	chr2:86116000-86117282	MCF-7	breast:	n/a	n/a
12	SIX5	chr2:86116085-86117162	A549	lung:	n/a	n/a
13	TCF12	chr2:86115901-86118059	A549	lung:	n/a	n/a
14	SP1	chr2:86115893-86117387	A549	lung:	n/a	chr2:86116156-86116165 chr2:86116154-86116166 chr2:86116304-86116313 chr2:86116155-86116165 chr2:86116154-86116166 chr2:86116156-86116165 chr2:86116303-86116315 chr2:86116186-86116207 chr2:86116155-86116165 chr2:86116303-86116315 chr2:86116155-86116164 chr2:86116305-86116314
15	SMARCB1	chr2:86115630-86117096	Hela-S3	cervix:	n/a	n/a
16	SIN3AK20	chr2:86116174-86117122	A549	lung:	n/a	n/a
17	MXI1	chr2:86114442-86117314	SK-N-SH	brain:	n/a	n/a
18	SIN3AK20	chr2:86116111-86117160	A549	lung:	n/a	n/a
19	MAZ	chr2:86115094-86117105	IMR90	lung:	n/a	chr2:86116152-86116161 chr2:86115924-86115934
20	MAX	chr2:86115887-86117463	A549	lung:	n/a	chr2:86116152-86116161 chr2:86115924-86115934
21	FOXA2	chr2:86116975-86117445	A549	lung:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ATOH8-2	chr2:86116376-86117443	XLOC_001558
2	lnc-ATOH8-2	chr2:86116160-86118475	NONHSAT072061

Variant related genes	Relation type
ST3GAL5	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]
rs1135603	0.98[AFR][1000 genomes];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13008291	0.90[ASN][1000 genomes]
rs1401384	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1518983	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1518991	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1543972	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1878898	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1878899	0.96[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1878904	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2577768	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2577769	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2577770	0.97[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2577771	0.96[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2577772	0.97[AFR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2577774	0.98[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2577775	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2577777	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2577778	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2577779	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2577780	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2577786	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2679710	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2679711	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2679712	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2679713	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2679714	0.94[AFR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2679715	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2679716	0.85[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs2679717	0.96[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2679718	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2679719	0.97[AFR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2679720	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2679721	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2679725	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28364794	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2918014	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2918015	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2918016	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2945823	0.86[EUR][1000 genomes]
rs2945825	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2945826	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35153287	0.85[EUR][1000 genomes]
rs4832217	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4832218	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62150576	0.91[ASN][1000 genomes]
rs6734115	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6735629	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6747179	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6747294	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs764471	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs954176	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs959313	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[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:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:86114000-86117200	Active TSS	Lung	lung
2	chr2:86114000-86117800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
3	chr2:86114200-86117400	Active TSS	Psoas Muscle	Psoas
4	chr2:86114200-86117800	Active TSS	Brain Angular Gyrus	brain
5	chr2:86114200-86117800	Active TSS	Right Atrium	heart
6	chr2:86114600-86117200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr2:86114600-86117200	Active TSS	Thymus	Thymus
8	chr2:86114600-86117400	Active TSS	Ovary	ovary
9	chr2:86114800-86117400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr2:86114800-86117600	Active TSS	Brain Substantia Nigra	brain
11	chr2:86114800-86117800	Active TSS	Brain Cingulate Gyrus	brain
12	chr2:86114800-86117800	Active TSS	Pancreatic Islets	Pancreatic Islet
13	chr2:86115000-86117200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
14	chr2:86115000-86117200	Active TSS	Aorta	Aorta
15	chr2:86115000-86117200	Active TSS	Brain Anterior Caudate	brain
16	chr2:86115000-86117600	Active TSS	Brain Inferior Temporal Lobe	brain
17	chr2:86115200-86117200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
18	chr2:86115200-86117200	Active TSS	Duodenum Smooth Muscle	Duodenum
19	chr2:86115200-86117200	Active TSS	Small Intestine	intestine
20	chr2:86115200-86117200	Active TSS	Stomach Mucosa	stomach
21	chr2:86115200-86117400	Active TSS	Gastric	stomach
22	chr2:86115400-86117200	Active TSS	Brain Hippocampus Middle	brain
23	chr2:86115400-86117200	Active TSS	Pancreas	Pancrea
24	chr2:86115400-86118000	Active TSS	Rectal Smooth Muscle	rectum
25	chr2:86115600-86117200	Active TSS	Colonic Mucosa	Colon
26	chr2:86115600-86117800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr2:86115600-86118000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr2:86115800-86117200	Active TSS	HUES6 Cell Line	embryonic stem cell
29	chr2:86115800-86117200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
30	chr2:86115800-86117200	Active TSS	NHLF	lung
31	chr2:86116400-86117200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
32	chr2:86116400-86117200	Flanking Active TSS	Duodenum Mucosa	Duodenum
33	chr2:86116400-86117200	Flanking Active TSS	HSMM	muscle
34	chr2:86116400-86117200	Flanking Active TSS	NH-A	brain
35	chr2:86116400-86117200	Flanking Active TSS	Osteobl	bone
36	chr2:86116400-86117400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr2:86116400-86117400	Flanking Active TSS	Primary B cells from cord blood	blood
38	chr2:86116400-86117400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr2:86116400-86117400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
40	chr2:86116400-86117600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
41	chr2:86116400-86117600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr2:86116400-86117600	Flanking Active TSS	Placenta	Placenta
43	chr2:86116400-86118000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr2:86116400-86118000	Flanking Active TSS	Adipose Nuclei	Adipose
45	chr2:86116600-86117200	Flanking Active TSS	Primary B cells from peripheral blood	blood
46	chr2:86116600-86117200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
47	chr2:86116600-86117200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
48	chr2:86116600-86117200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
49	chr2:86116600-86117200	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr2:86116600-86117200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood

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