Variant report

Variant	rs10106169
Chromosome Location	chr8:110657643-110657644
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	RCOR1	chr8:110656029-110658212	HepG2	liver:	n/a	n/a
2	POLR2A	chr8:110656940-110657824	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr8:110656784-110657989	U87	brain:	n/a	n/a
4	RAD21	chr8:110657391-110657705	SK-N-SH_RA	brain:	n/a	n/a
5	POLR2A	chr8:110656771-110658043	H1-hESC	embryonic stem cell:	n/a	n/a
6	MYC	chr8:110656811-110657685	K562	blood:	n/a	chr8:110657086-110657097 chr8:110657087-110657096 chr8:110657086-110657096 chr8:110657086-110657096
7	CTCF	chr8:110656624-110657730	MCF-7	breast:	n/a	chr8:110656932-110656945 chr8:110656929-110656947
8	ELF1	chr8:110657546-110657835	HepG2	liver:	n/a	chr8:110657718-110657731
9	CTCF	chr8:110656496-110657932	A549	lung:	n/a	chr8:110656932-110656945 chr8:110656929-110656947
10	POLR2A	chr8:110656085-110657683	Hela-S3	cervix:	n/a	n/a
11	CTCF	chr8:110657500-110657650	SK-N-SH_RA	brain:	n/a	n/a
12	CEBPB	chr8:110657449-110657772	H1-hESC	embryonic stem cell:	n/a	n/a
13	MTA3	chr8:110657125-110657935	GM12878	blood:	n/a	n/a
14	HDAC2	chr8:110656353-110658190	MCF-7	breast:	n/a	n/a
15	RCOR1	chr8:110656468-110657646	K562	blood:	n/a	n/a
16	CTBP2	chr8:110656273-110657777	H1-hESC	embryonic stem cell:	n/a	n/a
17	POLR2A	chr8:110657613-110657679	ProgFib	skin:	n/a	n/a
18	SMARCB1	chr8:110656228-110657727	Hela-S3	cervix:	n/a	n/a
19	SMC3	chr8:110657427-110657887	GM12878	blood:	n/a	n/a
20	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
21	MYC	chr8:110656747-110658196	A549	lung:	n/a	chr8:110657086-110657097 chr8:110657087-110657096 chr8:110657086-110657096 chr8:110657086-110657096
22	MYC	chr8:110656754-110657659	K562	blood:	n/a	chr8:110657086-110657097 chr8:110657087-110657096 chr8:110657086-110657096 chr8:110657086-110657096
23	ELF1	chr8:110656658-110658001	GM12878	blood:	n/a	chr8:110657024-110657033 chr8:110656972-110656984 chr8:110657718-110657731 chr8:110656920-110656929 chr8:110657021-110657030 chr8:110657026-110657038
24	POLR2A	chr8:110657374-110658028	H1-neurons	neurons:	n/a	n/a
25	MAX	chr8:110655945-110658291	HepG2	liver:	n/a	chr8:110657086-110657097 chr8:110657087-110657096 chr8:110657086-110657096 chr8:110657086-110657096 chr8:110656320-110656329
26	CTCF	chr8:110657500-110657650	AG09319	gingival:	n/a	n/a
27	POLR2A	chr8:110656706-110657845	U87	brain:	n/a	n/a
28	MAX	chr8:110656045-110658216	HepG2	liver:	n/a	chr8:110657086-110657097 chr8:110657087-110657096 chr8:110657086-110657096 chr8:110657086-110657096 chr8:110656320-110656329
29	POLR2A	chr8:110656447-110657703	GM19193	blood:	n/a	n/a
30	MXI1	chr8:110656099-110658119	SK-N-SH	brain:	n/a	chr8:110657086-110657095
31	POLR2A	chr8:110656774-110657845	U87	brain:	n/a	n/a
32	POLR2A	chr8:110657334-110657780	H1-hESC	embryonic stem cell:	n/a	n/a
33	POLR2A	chr8:110656344-110657677	GM12892	blood:	n/a	n/a
34	MAX	chr8:110656095-110657752	MCF-7	breast:	n/a	chr8:110657086-110657097 chr8:110657087-110657096 chr8:110657086-110657096 chr8:110657086-110657096 chr8:110656320-110656329
35	GTF2F1	chr8:110657437-110657707	H1-hESC	embryonic stem cell:	n/a	n/a
36	MYC	chr8:110657571-110657726	HUVEC	blood vessel:	n/a	n/a
37	USF2	chr8:110656904-110657651	GM12878	blood:	n/a	chr8:110656916-110656932 chr8:110656977-110656993 chr8:110657171-110657187 chr8:110657023-110657039 chr8:110656985-110657001
38	CEBPB	chr8:110657422-110657799	IMR90	lung:	n/a	n/a
39	MAX	chr8:110656863-110657648	GM12878	blood:	n/a	chr8:110657086-110657097 chr8:110657087-110657096 chr8:110657086-110657096 chr8:110657086-110657096
40	WRNIP1	chr8:110656473-110657728	GM12878	blood:	n/a	n/a
41	RCOR1	chr8:110657564-110657714	K562	blood:	n/a	n/a
42	CREB1	chr8:110656718-110657778	H1-hESC	embryonic stem cell:	n/a	n/a
43	CEBPB	chr8:110657529-110657741	K562	blood:	n/a	n/a
44	PML	chr8:110656478-110657893	GM12878	blood:	n/a	n/a
45	CEBPB	chr8:110657436-110658141	HepG2	liver:	n/a	n/a
46	RUNX3	chr8:110656779-110657820	GM12878	blood:	n/a	n/a
47	MAZ	chr8:110656107-110657662	Hela-S3	cervix:	n/a	chr8:110657086-110657097 chr8:110657087-110657096 chr8:110657086-110657096 chr8:110657086-110657096 chr8:110656320-110656329
48	POLR2A	chr8:110656827-110657709	Gliobla	brain:	n/a	n/a
49	MBD4	chr8:110657533-110658131	HepG2	liver:	n/a	n/a
50	POLR2A	chr8:110656720-110658471	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:110550248..110554482-chr8:110655662..110659384,5	MCF-7	breast:
2	chr8:110344753..110346999-chr8:110656055..110658588,2	MCF-7	breast:
3	chr8:110656684..110658658-chr8:110660535..110663260,4	MCF-7	breast:
4	chr8:110656100..110658662-chr8:110702004..110704480,2	MCF-7	breast:
5	chr8:110550854..110555574-chr8:110655521..110658971,8	MCF-7	breast:
6	chr17:26663154..26664082-chr8:110656871..110657706,2	Hela-S3	cervix:
7	chr8:110345081..110347283-chr8:110656599..110658183,2	K562	blood:

Variant related genes	Relation type
SYBU	TF binding region
ENSG00000120533	Chromatin interaction
ENSG00000109079	Chromatin interaction
ENSG00000147642	Chromatin interaction
ENSG00000147654	Chromatin interaction
ENSG00000120526	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	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10098728	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10106568	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10106809	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11988264	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16879862	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16879869	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16879889	1.00[ASN][1000 genomes]
rs16879903	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16879906	1.00[ASN][1000 genomes]
rs28404625	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28465493	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28636990	1.00[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	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56384256	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56838167	1.00[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	1.00[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	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61702273	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6469277	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6987830	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7011702	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7017357	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73321006	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73321029	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7817360	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7817773	1.00[ASN][1000 genomes]
rs7824472	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7825942	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7841022	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7842227	0.85[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	1.00[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:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:110654800-110661200	Active TSS	Brain Inferior Temporal Lobe	brain
2	chr8:110655000-110657800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
3	chr8:110655200-110657800	Active TSS	Pancreas	Pancrea
4	chr8:110655200-110661200	Active TSS	Brain Angular Gyrus	brain
5	chr8:110655400-110658000	Active TSS	Duodenum Smooth Muscle	Duodenum
6	chr8:110655400-110658000	Active TSS	Pancreatic Islets	Pancreatic Islet
7	chr8:110655600-110658000	Active TSS	Right Atrium	heart
8	chr8:110655800-110657800	Active TSS	Colon Smooth Muscle	Colon
9	chr8:110655800-110659400	Active TSS	Brain Hippocampus Middle	brain
10	chr8:110656000-110657800	Active TSS	Gastric	stomach
11	chr8:110656000-110658000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
12	chr8:110656000-110658000	Bivalent/Poised TSS	Fetal Kidney	kidney
13	chr8:110656000-110658200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
14	chr8:110656200-110657800	Active TSS	Rectal Smooth Muscle	rectum
15	chr8:110656200-110658000	Active TSS	Aorta	Aorta
16	chr8:110656400-110657800	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr8:110656400-110657800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr8:110656400-110657800	Active TSS	Brain Substantia Nigra	brain
19	chr8:110656400-110657800	Active TSS	Fetal Intestine Small	intestine
20	chr8:110656600-110657800	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr8:110656600-110657800	Active TSS	H9 Cell Line	embryonic stem cell
22	chr8:110656600-110657800	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr8:110656600-110657800	Active TSS	Ovary	ovary
24	chr8:110656600-110657800	Active TSS	Psoas Muscle	Psoas
25	chr8:110656600-110657800	Bivalent/Poised TSS	HepG2	liver
26	chr8:110656600-110658000	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
27	chr8:110656600-110658000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr8:110656800-110657800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr8:110656800-110657800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr8:110656800-110657800	Active TSS	Lung	lung
31	chr8:110656800-110657800	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
32	chr8:110656800-110658000	Bivalent/Poised TSS	Osteobl	bone
33	chr8:110656800-110658200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
34	chr8:110656800-110658200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
35	chr8:110656800-110658200	Bivalent/Poised TSS	Fetal Lung	lung
36	chr8:110657000-110657800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
37	chr8:110657000-110657800	Active TSS	Esophagus	oesophagus
38	chr8:110657000-110657800	Active TSS	Left Ventricle	heart
39	chr8:110657000-110658000	Flanking Bivalent TSS/Enh	Primary B cells from cord blood	blood
40	chr8:110657000-110658000	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
41	chr8:110657200-110657800	Flanking Bivalent TSS/Enh	Primary T helper naive cells fromperipheralblood	blood
42	chr8:110657200-110657800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
43	chr8:110657200-110657800	Flanking Bivalent TSS/Enh	Primary Natural Killer cells fromperipheralblood	blood
44	chr8:110657200-110657800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr8:110657200-110657800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
46	chr8:110657200-110657800	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
47	chr8:110657200-110657800	Flanking Active TSS	Placenta	Placenta
48	chr8:110657200-110657800	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
49	chr8:110657200-110657800	Bivalent/Poised TSS	Placenta Amnion	Placenta Amnion
50	chr8:110657200-110657800	Active TSS	Right Ventricle	heart

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