Variant report

Variant	rs11994796
Chromosome Location	chr8:110655775-110655776
allele	A/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	CUX1	chr8:110655091-110655788	K562	blood:	n/a	n/a
2	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
3	RFX5	chr8:110655770-110657411	Hela-S3	cervix:	n/a	n/a
4	YY1	chr8:110655287-110656140	GM12878	blood:	n/a	n/a
5	ZNF263	chr8:110654963-110657165	HEK293-T-REx	kidney:	n/a	n/a
6	CEBPB	chr8:110655667-110657733	Hela-S3	cervix:	n/a	chr8:110656169-110656180
7	EP300	chr8:110655448-110655805	GM12878	blood:	n/a	chr8:110655750-110655760
8	KAP1	chr8:110655314-110656850	HEK293	kidney:	n/a	n/a
9	TBP	chr8:110655491-110656722	Hela-S3	cervix:	n/a	n/a
10	MAX	chr8:110654633-110655875	HCT-116	colon:	n/a	chr8:110655359-110655370 chr8:110655794-110655803

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
ENSG00000147654	Chromatin interaction
ENSG00000120526	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10505131	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10505132	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11986510	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13256586	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13268243	0.91[EUR][1000 genomes]
rs2702	0.92[EUR][1000 genomes]
rs3108829	0.88[EUR][1000 genomes]
rs3108832	0.87[EUR][1000 genomes]
rs3108837	0.84[EUR][1000 genomes]
rs3108853	0.92[EUR][1000 genomes]
rs3108854	0.92[EUR][1000 genomes]
rs3108862	0.92[EUR][1000 genomes]
rs3108863	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3108864	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3108865	0.92[EUR][1000 genomes]
rs3108869	0.90[EUR][1000 genomes]
rs3133926	0.87[EUR][1000 genomes]
rs3133927	0.86[EUR][1000 genomes]
rs3134317	0.92[EUR][1000 genomes]
rs3134319	0.92[EUR][1000 genomes]
rs3134325	0.87[EUR][1000 genomes]
rs3134331	0.84[EUR][1000 genomes]
rs6469275	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6985646	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7008447	0.82[AMR][1000 genomes];0.92[EUR][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:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:110633200-110656000	Weak transcription	Gastric	stomach
2	chr8:110650600-110656200	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr8:110652800-110655800	Weak transcription	Colon Smooth Muscle	Colon
4	chr8:110653600-110656000	Weak transcription	Psoas Muscle	Psoas
5	chr8:110654000-110656200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr8:110654800-110656200	Active TSS	Fetal Brain Female	brain
7	chr8:110654800-110656400	Active TSS	GM12878-XiMat	blood
8	chr8:110654800-110661200	Active TSS	Brain Inferior Temporal Lobe	brain
9	chr8:110655000-110655800	Enhancers	Primary B cells from peripheral blood	blood
10	chr8:110655000-110655800	Enhancers	Stomach Mucosa	stomach
11	chr8:110655000-110656200	Flanking Active TSS	HepG2	liver
12	chr8:110655000-110656800	Flanking Active TSS	K562	blood
13	chr8:110655000-110657600	Active TSS	Brain Anterior Caudate	brain
14	chr8:110655000-110657800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
15	chr8:110655200-110655800	Weak transcription	Brain Hippocampus Middle	brain
16	chr8:110655200-110656000	Enhancers	Brain Substantia Nigra	brain
17	chr8:110655200-110656000	Weak transcription	Lung	lung
18	chr8:110655200-110656000	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
19	chr8:110655200-110656000	Flanking Active TSS	Hela-S3	cervix
20	chr8:110655200-110656200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr8:110655200-110656800	Flanking Active TSS	Adipose Nuclei	Adipose
22	chr8:110655200-110657800	Active TSS	Pancreas	Pancrea
23	chr8:110655200-110661200	Active TSS	Brain Angular Gyrus	brain
24	chr8:110655400-110655800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
25	chr8:110655400-110655800	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
26	chr8:110655400-110656000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr8:110655400-110656000	Active TSS	Rectal Smooth Muscle	rectum
28	chr8:110655400-110656200	Active TSS	Stomach Smooth Muscle	stomach
29	chr8:110655400-110656200	Flanking Active TSS	NHEK	skin
30	chr8:110655400-110656400	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr8:110655400-110656400	Bivalent/Poised TSS	NHLF	lung
32	chr8:110655400-110657200	Active TSS	Liver	Liver
33	chr8:110655400-110658000	Active TSS	Duodenum Smooth Muscle	Duodenum
34	chr8:110655400-110658000	Active TSS	Pancreatic Islets	Pancreatic Islet
35	chr8:110655600-110655800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr8:110655600-110655800	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr8:110655600-110656000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr8:110655600-110656000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr8:110655600-110656000	Weak transcription	Esophagus	oesophagus
40	chr8:110655600-110656000	Active TSS	Fetal Brain Male	brain
41	chr8:110655600-110656000	Enhancers	Fetal Intestine Small	intestine
42	chr8:110655600-110656000	Flanking Active TSS	A549	lung
43	chr8:110655600-110656000	Flanking Active TSS	HMEC	breast
44	chr8:110655600-110656200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
45	chr8:110655600-110656800	Flanking Active TSS	Duodenum Mucosa	Duodenum
46	chr8:110655600-110656800	Bivalent/Poised TSS	NHDF-Ad	bronchial
47	chr8:110655600-110657400	Active TSS	Brain Cingulate Gyrus	brain
48	chr8:110655600-110657600	Active TSS	Breast Myoepithelial Primary Cells	Breast
49	chr8:110655600-110658000	Active TSS	Right Atrium	heart

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