Variant report

Variant	rs59326650
Chromosome Location	chr8:110552252-110552253
allele	G/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	ZNF143	chr8:110551804-110552454	H1-hESC	embryonic stem cell:	n/a	chr8:110552030-110552040 chr8:110552125-110552143 chr8:110552115-110552125
2	UBTF	chr8:110551669-110553073	K562	blood:	n/a	n/a
3	RFX5	chr8:110551040-110553109	IMR90	lung:	n/a	chr8:110551195-110551208 chr8:110551778-110551787
4	FOSL2	chr8:110552043-110552544	HepG2	liver:	n/a	chr8:110552124-110552133
5	FOXP2	chr8:110551596-110552591	SK-N-MC	brain:	n/a	n/a
6	GABPA	chr8:110552010-110552623	Hela-S3	cervix:	n/a	chr8:110552125-110552134 chr8:110552030-110552039 chr8:110552088-110552097
7	BHLHE40	chr8:110552065-110552744	A549	lung:	n/a	chr8:110552091-110552107
8	ELF1	chr8:110551854-110552562	K562	blood:	n/a	n/a
9	MTA3	chr8:110552115-110552888	GM12878	blood:	n/a	n/a
10	POLR2A	chr8:110551395-110552982	PFSK-1	brain:	n/a	n/a
11	SIX5	chr8:110552177-110552483	A549	lung:	n/a	n/a
12	POLR2A	chr8:110551289-110553000	GM12892	blood:	n/a	n/a
13	TAF1	chr8:110551870-110552558	HepG2	liver:	n/a	n/a
14	YY1	chr8:110551807-110552741	A549	lung:	n/a	chr8:110551901-110551910 chr8:110551919-110551930 chr8:110551946-110551966
15	POLR2A	chr8:110551463-110552974	GM12892	blood:	n/a	n/a
16	YY1	chr8:110551889-110552569	K562	blood:	n/a	chr8:110551901-110551910 chr8:110551919-110551930 chr8:110551946-110551966
17	YY1	chr8:110551793-110552920	GM12878	blood:	n/a	chr8:110551901-110551910 chr8:110551919-110551930 chr8:110551946-110551966
18	POLR2A	chr8:110551886-110552707	PANC-1	pancreas:	n/a	n/a
19	POU2F2	chr8:110552154-110552561	GM12878	blood:	n/a	n/a
20	POLR2A	chr8:110551477-110553154	IMR90	lung:	n/a	n/a
21	MYC	chr8:110552000-110552662	HepG2	liver:	n/a	n/a
22	POLR2A	chr8:110550770-110554098	GM12878	blood:	n/a	n/a
23	POLR2A	chr8:110551914-110552576	HepG2	liver:	n/a	n/a
24	POLR2A	chr8:110551203-110553149	K562	blood:	n/a	n/a
25	CHD1	chr8:110552146-110553099	GM12878	blood:	n/a	n/a
26	GTF2F1	chr8:110552152-110552940	Hela-S3	cervix:	n/a	n/a
27	IRF1	chr8:110552014-110553363	K562	blood:	n/a	chr8:110552733-110552744
28	GABPA	chr8:110551981-110552589	GM12878	blood:	n/a	chr8:110552125-110552134 chr8:110552030-110552039 chr8:110552088-110552097
29	CEBPB	chr8:110552166-110552816	H1-hESC	embryonic stem cell:	n/a	n/a
30	YY1	chr8:110551640-110552873	HCT-116	colon:	n/a	chr8:110551901-110551910 chr8:110551919-110551930 chr8:110551946-110551966
31	MYC	chr8:110551525-110553038	K562	blood:	n/a	n/a
32	GABPA	chr8:110551962-110552974	A549	lung:	n/a	chr8:110552125-110552134 chr8:110552030-110552039 chr8:110552088-110552097
33	MTA3	chr8:110551915-110553148	GM12878	blood:	n/a	n/a
34	IRF4	chr8:110552039-110552555	GM12878	blood:	n/a	n/a
35	POLR2A	chr8:110550972-110553228	SK-N-MC	brain:	n/a	n/a
36	ARID3A	chr8:110552194-110552864	HepG2	liver:	n/a	n/a
37	IRF1	chr8:110551326-110552660	K562	blood:	n/a	chr8:110551900-110551914
38	POLR2A	chr8:110551244-110552959	PFSK-1	brain:	n/a	n/a
39	NFATC1	chr8:110552065-110552826	GM12878	blood:	n/a	n/a
40	GABPA	chr8:110551407-110553063	MCF-7	breast:	n/a	chr8:110552125-110552134 chr8:110552030-110552039 chr8:110551901-110551910 chr8:110552088-110552097
41	HDAC2	chr8:110552137-110552663	K562	blood:	n/a	n/a
42	POLR2A	chr8:110552104-110553050	HCT-116	colon:	n/a	n/a
43	NR3C1	chr8:110552104-110552531	A549	lung:	n/a	n/a
44	NFIC	chr8:110552062-110552736	GM12878	blood:	n/a	n/a
45	CREB1	chr8:110552205-110552608	A549	lung:	n/a	n/a
46	MAZ	chr8:110551242-110552961	K562	blood:	n/a	n/a
47	HCFC1	chr8:110551609-110552786	K562	blood:	n/a	n/a
48	NR2C2	chr8:110552150-110552549	K562	blood:	n/a	chr8:110552348-110552357
49	MAX	chr8:110551530-110553000	SK-N-SH	brain:	n/a	n/a
50	POLR2A	chr8:110551882-110552621	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:110532017..110535509-chr8:110550359..110553902,4	K562	blood:
2	chr8:110551215..110554146-chr8:110654892..110657586,2	K562	blood:
3	chr8:110550854..110555574-chr8:110655521..110658971,8	MCF-7	breast:
4	chr8:110550248..110554482-chr8:110655662..110659384,5	MCF-7	breast:
5	chr8:110345043..110348121-chr8:110552187..110555580,5	K562	blood:
6	chr8:110351472..110353589-chr8:110551719..110554657,2	K562	blood:
7	chr8:110550506..110554029-chr8:110560195..110563108,6	MCF-7	breast:
8	chr17:8285909..8286509-chr8:110552011..110552551,2	NB4	blood:
9	chr8:110534700..110536974-chr8:110550583..110552787,3	MCF-7	breast:
10	chr8:110480733..110484366-chr8:110549857..110553138,3	MCF-7	breast:
11	chr8:110532422..110535509-chr8:110550359..110553902,3	K562	blood:
12	chr8:110346229..110349558-chr8:110551131..110555531,7	K562	blood:
13	chr17:41115999..41116802-chr8:110551857..110552704,2	HCT-116	colon:
14	chr8:110551172..110552900-chr8:110613869..110616553,2	MCF-7	breast:
15	chr8:110550694..110556278-chr8:110557032..110565525,15	MCF-7	breast:
16	chr8:110345283..110346986-chr8:110550788..110552919,3	MCF-7	breast:
17	chr8:110344871..110348245-chr8:110549404..110554651,7	MCF-7	breast:
18	chr8:110490813..110493110-chr8:110549363..110552380,3	MCF-7	breast:
19	chr8:110551988..110555719-chr8:110561035..110566674,6	K562	blood:
20	chr8:110550646..110556695-chr8:110561304..110567831,11	K562	blood:
21	chr8:110550857..110553602-chr8:110653501..110657228,5	K562	blood:
22	chr8:110551884..110552610-chrX:153718586..153719320,2	HCT-116	colon:

Variant related genes	Relation type
EBAG9	TF binding region
ENSG00000147654	Chromatin interaction
ENSG00000120526	Chromatin interaction
ENSG00000205038	Chromatin interaction
ENSG00000266967	Chromatin interaction
ENSG00000161970	Chromatin interaction
ENSG00000147642	Chromatin interaction
ENSG00000120533	Chromatin interaction
ENSG00000126903	Chromatin interaction
ENSG00000263809	Chromatin interaction
ENSG00000248050	Chromatin interaction
ENSG00000254185	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs16879336	1.00[AMR][1000 genomes]
rs16879428	1.00[AMR][1000 genomes]
rs16879553	1.00[AMR][1000 genomes]
rs16879567	1.00[AMR][1000 genomes]
rs16879636	1.00[AMR][1000 genomes]
rs1892762	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1979299	1.00[AMR][1000 genomes]
rs1979300	1.00[AMR][1000 genomes]
rs2124980	1.00[AMR][1000 genomes]
rs55752435	1.00[AMR][1000 genomes]
rs56238419	1.00[AMR][1000 genomes]
rs56932873	1.00[AMR][1000 genomes]
rs57170073	1.00[AMR][1000 genomes]
rs57937650	1.00[AMR][1000 genomes]
rs59478583	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59982879	1.00[AMR][1000 genomes]
rs60463599	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73700649	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73700650	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73700652	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73700655	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73700858	1.00[AMR][1000 genomes]
rs73700860	1.00[AMR][1000 genomes]
rs73700867	1.00[AMR][1000 genomes]
rs73700869	1.00[AMR][1000 genomes]
rs73700876	1.00[AMR][1000 genomes]
rs73700886	1.00[AMR][1000 genomes]
rs73704006	1.00[AMR][1000 genomes]
rs73704009	1.00[AMR][1000 genomes]
rs73704016	1.00[AMR][1000 genomes]
rs73704022	1.00[AMR][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	nsv891281	chr8:110450092-110558622	Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	15 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	chr8:110550800-110553400	Active TSS	Colonic Mucosa	Colon
2	chr8:110550800-110553600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr8:110551000-110553000	Active TSS	iPS-20b Cell Line	embryonic stem cell
4	chr8:110551200-110552800	Active TSS	Brain Cingulate Gyrus	brain
5	chr8:110551200-110553000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
6	chr8:110551200-110553000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr8:110551200-110553000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr8:110551200-110553000	Active TSS	H9 Cell Line	embryonic stem cell
9	chr8:110551200-110553000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr8:110551200-110553000	Active TSS	Brain Angular Gyrus	brain
11	chr8:110551200-110553000	Active TSS	Brain Hippocampus Middle	brain
12	chr8:110551200-110553000	Active TSS	Fetal Muscle Trunk	muscle
13	chr8:110551200-110553000	Active TSS	Left Ventricle	heart
14	chr8:110551200-110553000	Active TSS	Rectal Smooth Muscle	rectum
15	chr8:110551200-110553200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr8:110551200-110553200	Active TSS	Brain Substantia Nigra	brain
17	chr8:110551200-110553400	Active TSS	Fetal Stomach	stomach
18	chr8:110551200-110553400	Active TSS	Stomach Mucosa	stomach
19	chr8:110551200-110553600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr8:110551200-110553600	Active TSS	Brain Inferior Temporal Lobe	brain
21	chr8:110551200-110553600	Active TSS	Psoas Muscle	Psoas
22	chr8:110551200-110553600	Active TSS	Skeletal Muscle Female	skeletal muscle
23	chr8:110551200-110553800	Active TSS	Brain Anterior Caudate	brain
24	chr8:110551200-110553800	Active TSS	Pancreas	Pancrea
25	chr8:110551200-110553800	Active TSS	Right Ventricle	heart
26	chr8:110551200-110554000	Active TSS	ES-I3 Cell Line	embryonic stem cell
27	chr8:110551200-110554000	Active TSS	NHDF-Ad	bronchial
28	chr8:110551400-110552800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr8:110551400-110552800	Active TSS	Fetal Brain Male	brain
30	chr8:110551400-110552800	Active TSS	Fetal Lung	lung
31	chr8:110551400-110552800	Active TSS	Gastric	stomach
32	chr8:110551400-110553000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr8:110551400-110553000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr8:110551400-110553000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr8:110551400-110553000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr8:110551400-110553000	Active TSS	Esophagus	oesophagus
37	chr8:110551400-110553000	Active TSS	Lung	lung
38	chr8:110551400-110553000	Active TSS	Ovary	ovary
39	chr8:110551400-110553000	Active TSS	Sigmoid Colon	Sigmoid Colon
40	chr8:110551400-110553200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr8:110551400-110553200	Active TSS	iPS-18 Cell Line	embryonic stem cell
42	chr8:110551400-110553200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr8:110551400-110553200	Active TSS	Fetal Adrenal Gland	Adrenal Gland
44	chr8:110551400-110553200	Active TSS	Fetal Intestine Small	intestine
45	chr8:110551400-110553200	Active TSS	Thymus	Thymus
46	chr8:110551400-110553400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr8:110551400-110553400	Active TSS	Brain Germinal Matrix	brain
48	chr8:110551400-110553400	Active TSS	Fetal Brain Female	brain
49	chr8:110551400-110553400	Active TSS	Fetal Intestine Large	intestine
50	chr8:110551400-110553400	Active TSS	Rectal Mucosa Donor 29	rectum

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