Variant report

Variant	rs73321006
Chromosome Location	chr8:110656003-110656004
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	CEBPB	chr8:110655994-110656374	HepG2	liver:	n/a	chr8:110656169-110656180
2	USF2	chr8:110655916-110656552	Hela-S3	cervix:	n/a	n/a
3	MAX	chr8:110654743-110657818	HCT-116	colon:	n/a	chr8:110655359-110655370 chr8:110657086-110657097 chr8:110655794-110655803 chr8:110657087-110657096 chr8:110657086-110657096 chr8:110657086-110657096 chr8:110656320-110656329
4	RFX5	chr8:110655770-110657411	Hela-S3	cervix:	n/a	n/a
5	MAX	chr8:110655945-110658291	HepG2	liver:	n/a	chr8:110657086-110657097 chr8:110657087-110657096 chr8:110657086-110657096 chr8:110657086-110657096 chr8:110656320-110656329
6	YY1	chr8:110655287-110656140	GM12878	blood:	n/a	n/a
7	MXI1	chr8:110655990-110657245	Hela-S3	cervix:	n/a	chr8:110657086-110657095
8	TEAD4	chr8:110655935-110656421	HepG2	liver:	n/a	n/a
9	ZNF263	chr8:110654963-110657165	HEK293-T-REx	kidney:	n/a	n/a
10	RCOR1	chr8:110655891-110657416	Hela-S3	cervix:	n/a	n/a
11	CTCF	chr8:110655920-110656070	GM12873	blood:	n/a	n/a
12	KAP1	chr8:110655908-110656672	U2OS	brain:	n/a	n/a
13	MAX	chr8:110656003-110657628	Hela-S3	cervix:	n/a	chr8:110657086-110657097 chr8:110657087-110657096 chr8:110657086-110657096 chr8:110657086-110657096 chr8:110656320-110656329
14	FOXA1	chr8:110656000-110656563	HepG2	liver:	n/a	n/a
15	MAX	chr8:110656002-110657315	Hela-S3	cervix:	n/a	chr8:110657086-110657097 chr8:110657087-110657096 chr8:110657086-110657096 chr8:110657086-110657096 chr8:110656320-110656329
16	TCF7L2	chr8:110655862-110657396	Hela-S3	cervix:	n/a	n/a
17	CEBPB	chr8:110655667-110657733	Hela-S3	cervix:	n/a	chr8:110656169-110656180
18	GTF2F1	chr8:110655981-110656645	Hela-S3	cervix:	n/a	n/a
19	TFAP2C	chr8:110655989-110657697	Hela-S3	cervix:	n/a	chr8:110656368-110656383
20	KAP1	chr8:110655314-110656850	HEK293	kidney:	n/a	n/a
21	NR2F2	chr8:110655977-110657570	MCF-7	breast:	n/a	n/a
22	TBP	chr8:110655491-110656722	Hela-S3	cervix:	n/a	n/a
23	ELK1	chr8:110655963-110656364	Hela-S3	cervix:	n/a	n/a
24	E2F4	chr8:110655979-110656203	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:110550248..110554482-chr8:110655662..110659384,5	MCF-7	breast:
2	chr8:110551215..110554146-chr8:110654892..110657586,2	K562	blood:
3	chr8:110343048..110346506-chr8:110655063..110657604,4	MCF-7	breast:
4	chr8:110550854..110555574-chr8:110655521..110658971,8	MCF-7	breast:
5	chr8:110550857..110553602-chr8:110653501..110657228,5	K562	blood:

Variant related genes	Relation type
SYBU	TF binding region
ENSG00000248050	TF binding region
ENSG00000120526	Chromatin interaction
ENSG00000147654	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10092211	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10098728	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10106169	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10106568	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10106809	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11988264	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16879862	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16879869	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16879889	1.00[ASN][1000 genomes]
rs16879903	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16879906	1.00[ASN][1000 genomes]
rs28404625	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28465493	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28636990	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28726128	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4313130	1.00[ASN][1000 genomes]
rs4506181	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56384256	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56838167	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs57167766	1.00[ASN][1000 genomes]
rs57285880	1.00[ASN][1000 genomes]
rs58404081	1.00[ASN][1000 genomes]
rs58910462	1.00[ASN][1000 genomes]
rs59161508	1.00[ASN][1000 genomes]
rs59892422	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59981669	0.81[ASN][1000 genomes]
rs60841208	1.00[ASN][1000 genomes]
rs61437630	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61702273	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6469277	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6987830	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7011702	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7017357	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73321029	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7817360	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7817773	1.00[ASN][1000 genomes]
rs7824472	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7825942	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7841022	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7842227	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7843208	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9297431	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	esv1849702	chr8:110594148-110683804	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:110650600-110656200	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr8:110654000-110656200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr8:110654800-110656200	Active TSS	Fetal Brain Female	brain
4	chr8:110654800-110656400	Active TSS	GM12878-XiMat	blood
5	chr8:110654800-110661200	Active TSS	Brain Inferior Temporal Lobe	brain
6	chr8:110655000-110656200	Flanking Active TSS	HepG2	liver
7	chr8:110655000-110656800	Flanking Active TSS	K562	blood
8	chr8:110655000-110657600	Active TSS	Brain Anterior Caudate	brain
9	chr8:110655000-110657800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
10	chr8:110655200-110656200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr8:110655200-110656800	Flanking Active TSS	Adipose Nuclei	Adipose
12	chr8:110655200-110657800	Active TSS	Pancreas	Pancrea
13	chr8:110655200-110661200	Active TSS	Brain Angular Gyrus	brain
14	chr8:110655400-110656200	Active TSS	Stomach Smooth Muscle	stomach
15	chr8:110655400-110656200	Flanking Active TSS	NHEK	skin
16	chr8:110655400-110656400	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr8:110655400-110656400	Bivalent/Poised TSS	NHLF	lung
18	chr8:110655400-110657200	Active TSS	Liver	Liver
19	chr8:110655400-110658000	Active TSS	Duodenum Smooth Muscle	Duodenum
20	chr8:110655400-110658000	Active TSS	Pancreatic Islets	Pancreatic Islet
21	chr8:110655600-110656200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
22	chr8:110655600-110656800	Flanking Active TSS	Duodenum Mucosa	Duodenum
23	chr8:110655600-110656800	Bivalent/Poised TSS	NHDF-Ad	bronchial
24	chr8:110655600-110657400	Active TSS	Brain Cingulate Gyrus	brain
25	chr8:110655600-110657600	Active TSS	Breast Myoepithelial Primary Cells	Breast
26	chr8:110655600-110658000	Active TSS	Right Atrium	heart
27	chr8:110655800-110656200	Flanking Bivalent TSS/Enh	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr8:110655800-110656200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
29	chr8:110655800-110656200	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
30	chr8:110655800-110656400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr8:110655800-110656600	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
32	chr8:110655800-110656800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr8:110655800-110657800	Active TSS	Colon Smooth Muscle	Colon
34	chr8:110655800-110659400	Active TSS	Brain Hippocampus Middle	brain
35	chr8:110656000-110656200	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr8:110656000-110656200	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
37	chr8:110656000-110656200	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr8:110656000-110656200	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
39	chr8:110656000-110656200	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
40	chr8:110656000-110656200	Active TSS	Muscle Satellite Cultured Cells	--
41	chr8:110656000-110656200	Bivalent Enhancer	Placenta	Placenta
42	chr8:110656000-110656200	Bivalent/Poised TSS	Fetal Stomach	stomach
43	chr8:110656000-110656200	Enhancers	Ovary	ovary
44	chr8:110656000-110656200	Active TSS	Psoas Muscle	Psoas
45	chr8:110656000-110656200	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 29	rectum
46	chr8:110656000-110656200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
47	chr8:110656000-110656200	Flanking Active TSS	Rectal Smooth Muscle	rectum
48	chr8:110656000-110656200	Active TSS	Right Ventricle	heart
49	chr8:110656000-110656200	Bivalent Enhancer	HUVEC	blood vessel
50	chr8:110656000-110656400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell

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