Variant report

Variant	rs11774663
Chromosome Location	chr8:110656773-110656774
allele	C/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	HDAC2	chr8:110656763-110657255	HepG2	liver:	n/a	n/a
2	RCOR1	chr8:110656029-110658212	HepG2	liver:	n/a	n/a
3	E2F6	chr8:110656281-110657372	K562	blood:	n/a	chr8:110657022-110657032 chr8:110656977-110656986 chr8:110657215-110657224
4	POLR2A	chr8:110656758-110657300	A549	lung:	n/a	n/a
5	RAD21	chr8:110656773-110657113	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr8:110656770-110657320	A549	lung:	n/a	n/a
7	POLR2A	chr8:110656191-110657318	H1-neurons	neurons:	n/a	n/a
8	MAZ	chr8:110656743-110657621	K562	blood:	n/a	chr8:110657086-110657097 chr8:110657087-110657096 chr8:110657086-110657096 chr8:110657086-110657096
9	POLR2A	chr8:110656771-110658043	H1-hESC	embryonic stem cell:	n/a	n/a
10	CTCF	chr8:110656624-110657730	MCF-7	breast:	n/a	chr8:110656932-110656945 chr8:110656929-110656947
11	POLR2A	chr8:110656769-110657176	K562	blood:	n/a	n/a
12	SMC3	chr8:110656019-110657530	Hela-S3	cervix:	n/a	n/a
13	E2F6	chr8:110656752-110657231	K562	blood:	n/a	chr8:110657022-110657032 chr8:110656977-110656986 chr8:110657215-110657224
14	MAX	chr8:110656636-110657318	H1-hESC	embryonic stem cell:	n/a	chr8:110657086-110657097 chr8:110657087-110657096 chr8:110657086-110657096 chr8:110657086-110657096
15	NRF1	chr8:110656688-110657149	GM12878	blood:	n/a	chr8:110656971-110656985 chr8:110656990-110656999
16	CTCF	chr8:110656496-110657932	A549	lung:	n/a	chr8:110656932-110656945 chr8:110656929-110656947
17	POLR2A	chr8:110656085-110657683	Hela-S3	cervix:	n/a	n/a
18	RCOR1	chr8:110656755-110657618	GM12878	blood:	n/a	n/a
19	TAF1	chr8:110656762-110657270	HepG2	liver:	n/a	n/a
20	RAD21	chr8:110656735-110657120	H1-hESC	embryonic stem cell:	n/a	n/a
21	ZEB1	chr8:110656635-110657537	GM12878	blood:	n/a	chr8:110657143-110657150
22	CTCF	chr8:110656740-110657010	NHDF-neo	bronchial:	n/a	chr8:110656932-110656945 chr8:110656929-110656947
23	RAD21	chr8:110656645-110657159	H1-hESC	embryonic stem cell:	n/a	n/a
24	USF1	chr8:110656223-110657476	HCT-116	colon:	n/a	chr8:110656916-110656932 chr8:110656977-110656993 chr8:110657171-110657187 chr8:110657085-110657096 chr8:110657023-110657039 chr8:110656985-110657001
25	HDAC2	chr8:110656353-110658190	MCF-7	breast:	n/a	n/a
26	MAX	chr8:110656031-110657636	A549	lung:	n/a	chr8:110657086-110657097 chr8:110657087-110657096 chr8:110657086-110657096 chr8:110657086-110657096 chr8:110656320-110656329
27	MAX	chr8:110656345-110657452	A549	lung:	n/a	chr8:110657086-110657097 chr8:110657087-110657096 chr8:110657086-110657096 chr8:110657086-110657096
28	RCOR1	chr8:110656468-110657646	K562	blood:	n/a	n/a
29	CTCF	chr8:110656662-110657186	K562	blood:	n/a	chr8:110656932-110656945 chr8:110656929-110656947
30	POLR2A	chr8:110656746-110657520	PANC-1	pancreas:	n/a	n/a
31	CTBP2	chr8:110656273-110657777	H1-hESC	embryonic stem cell:	n/a	n/a
32	SMARCB1	chr8:110656228-110657727	Hela-S3	cervix:	n/a	n/a
33	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
34	CTCF	chr8:110656437-110657592	GM12878	blood:	n/a	chr8:110656932-110656945 chr8:110656929-110656947
35	RFX5	chr8:110655770-110657411	Hela-S3	cervix:	n/a	n/a
36	E2F6	chr8:110656231-110657309	H1-hESC	embryonic stem cell:	n/a	chr8:110657022-110657032 chr8:110656977-110656986 chr8:110657215-110657224
37	MYC	chr8:110656747-110658196	A549	lung:	n/a	chr8:110657086-110657097 chr8:110657087-110657096 chr8:110657086-110657096 chr8:110657086-110657096
38	CHD2	chr8:110656114-110657364	Hela-S3	cervix:	n/a	chr8:110657213-110657223 chr8:110656907-110656917
39	TFAP2A	chr8:110656113-110657476	Hela-S3	cervix:	n/a	chr8:110657152-110657164 chr8:110657152-110657164 chr8:110656986-110657001 chr8:110657152-110657164 chr8:110657152-110657164 chr8:110656892-110656907
40	MYC	chr8:110656754-110657659	K562	blood:	n/a	chr8:110657086-110657097 chr8:110657087-110657096 chr8:110657086-110657096 chr8:110657086-110657096
41	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
42	TCF12	chr8:110656149-110656963	A549	lung:	n/a	n/a
43	MAX	chr8:110655945-110658291	HepG2	liver:	n/a	chr8:110657086-110657097 chr8:110657087-110657096 chr8:110657086-110657096 chr8:110657086-110657096 chr8:110656320-110656329
44	YY1	chr8:110656460-110657296	HCT-116	colon:	n/a	chr8:110656917-110656928 chr8:110657021-110657032 chr8:110657021-110657030 chr8:110656977-110656991 chr8:110657019-110657033 chr8:110656987-110657001 chr8:110657024-110657033
45	POLR2A	chr8:110656658-110657363	H1-neurons	neurons:	n/a	n/a
46	YY1	chr8:110656720-110657282	HepG2	liver:	n/a	chr8:110656917-110656928 chr8:110657021-110657032 chr8:110657021-110657030 chr8:110656977-110656991 chr8:110657019-110657033 chr8:110656987-110657001 chr8:110657024-110657033
47	POLR2A	chr8:110656295-110657533	Raji	blood:	n/a	n/a
48	POLR2A	chr8:110656754-110657289	GM12878	blood:	n/a	n/a
49	POLR2A	chr8:110656706-110657845	U87	brain:	n/a	n/a
50	MAX	chr8:110656045-110658216	HepG2	liver:	n/a	chr8:110657086-110657097 chr8:110657087-110657096 chr8:110657086-110657096 chr8:110657086-110657096 chr8:110656320-110656329

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	chr8:110344753..110346999-chr8:110656055..110658588,2	MCF-7	breast:
5	chr8:110656684..110658658-chr8:110660535..110663260,4	MCF-7	breast:
6	chr8:110656100..110658662-chr8:110702004..110704480,2	MCF-7	breast:
7	chr8:110550854..110555574-chr8:110655521..110658971,8	MCF-7	breast:
8	chr8:110550857..110553602-chr8:110653501..110657228,5	K562	blood:
9	chr8:110345081..110347283-chr8:110656599..110658183,2	K562	blood:

Variant related genes	Relation type
SYBU	TF binding region
ENSG00000120526	Chromatin interaction
ENSG00000147654	Chromatin interaction
ENSG00000147642	Chromatin interaction
ENSG00000120533	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10090145	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10505132	0.91[ASN][1000 genomes]
rs11998387	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13256586	0.97[ASN][1000 genomes]
rs13268243	0.91[ASN][1000 genomes]
rs1573853	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2702	0.95[ASN][1000 genomes]
rs3108829	0.89[ASN][1000 genomes]
rs3108832	0.88[ASN][1000 genomes]
rs3108837	0.88[ASN][1000 genomes]
rs3108840	0.87[ASN][1000 genomes]
rs3108853	0.90[ASN][1000 genomes]
rs3108854	0.90[ASN][1000 genomes]
rs3108862	0.91[ASN][1000 genomes]
rs3108865	0.91[ASN][1000 genomes]
rs3108869	0.90[ASN][1000 genomes]
rs3133926	0.87[ASN][1000 genomes]
rs3133927	0.89[ASN][1000 genomes]
rs3133935	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3133936	0.89[ASN][1000 genomes]
rs3133937	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3134314	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3134317	0.91[ASN][1000 genomes]
rs3134319	0.91[ASN][1000 genomes]
rs3134325	0.89[ASN][1000 genomes]
rs3134331	0.89[ASN][1000 genomes]
rs6469275	0.99[ASN][1000 genomes]
rs6985646	0.99[ASN][1000 genomes]
rs7008447	0.97[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	chr8:110655000-110656800	Flanking Active TSS	K562	blood
3	chr8:110655000-110657600	Active TSS	Brain Anterior Caudate	brain
4	chr8:110655000-110657800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
5	chr8:110655200-110656800	Flanking Active TSS	Adipose Nuclei	Adipose
6	chr8:110655200-110657800	Active TSS	Pancreas	Pancrea
7	chr8:110655200-110661200	Active TSS	Brain Angular Gyrus	brain
8	chr8:110655400-110657200	Active TSS	Liver	Liver
9	chr8:110655400-110658000	Active TSS	Duodenum Smooth Muscle	Duodenum
10	chr8:110655400-110658000	Active TSS	Pancreatic Islets	Pancreatic Islet
11	chr8:110655600-110656800	Flanking Active TSS	Duodenum Mucosa	Duodenum
12	chr8:110655600-110656800	Bivalent/Poised TSS	NHDF-Ad	bronchial
13	chr8:110655600-110657400	Active TSS	Brain Cingulate Gyrus	brain
14	chr8:110655600-110657600	Active TSS	Breast Myoepithelial Primary Cells	Breast
15	chr8:110655600-110658000	Active TSS	Right Atrium	heart
16	chr8:110655800-110656800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr8:110655800-110657800	Active TSS	Colon Smooth Muscle	Colon
18	chr8:110655800-110659400	Active TSS	Brain Hippocampus Middle	brain
19	chr8:110656000-110656800	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
20	chr8:110656000-110656800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr8:110656000-110656800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr8:110656000-110656800	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
23	chr8:110656000-110656800	Flanking Active TSS	Fetal Brain Male	brain
24	chr8:110656000-110656800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
25	chr8:110656000-110657000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr8:110656000-110657200	Active TSS	Colonic Mucosa	Colon
27	chr8:110656000-110657200	Active TSS	HMEC	breast
28	chr8:110656000-110657400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
29	chr8:110656000-110657400	Bivalent/Poised TSS	Fetal Intestine Large	intestine
30	chr8:110656000-110657400	Active TSS	Stomach Mucosa	stomach
31	chr8:110656000-110657400	Active TSS	Hela-S3	cervix
32	chr8:110656000-110657600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
33	chr8:110656000-110657600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr8:110656000-110657600	Active TSS	A549	lung
35	chr8:110656000-110657800	Active TSS	Gastric	stomach
36	chr8:110656000-110658000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
37	chr8:110656000-110658000	Bivalent/Poised TSS	Fetal Kidney	kidney
38	chr8:110656000-110658200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
39	chr8:110656200-110656800	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr8:110656200-110656800	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr8:110656200-110656800	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr8:110656200-110656800	Flanking Active TSS	Primary B cells from peripheral blood	blood
43	chr8:110656200-110656800	Flanking Bivalent TSS/Enh	Primary T helper naive cells fromperipheralblood	blood
44	chr8:110656200-110656800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
45	chr8:110656200-110656800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
46	chr8:110656200-110656800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
47	chr8:110656200-110656800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
48	chr8:110656200-110656800	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
49	chr8:110656200-110656800	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
50	chr8:110656200-110656800	Flanking Active TSS	Right Ventricle	heart

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