Variant report

Variant	rs6985646
Chromosome Location	chr8:110655907-110655908
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	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
2	RFX5	chr8:110655770-110657411	Hela-S3	cervix:	n/a	n/a
3	YY1	chr8:110655287-110656140	GM12878	blood:	n/a	n/a
4	ZNF263	chr8:110654963-110657165	HEK293-T-REx	kidney:	n/a	n/a
5	RCOR1	chr8:110655891-110657416	Hela-S3	cervix:	n/a	n/a
6	TCF7L2	chr8:110655862-110657396	Hela-S3	cervix:	n/a	n/a
7	CEBPB	chr8:110655667-110657733	Hela-S3	cervix:	n/a	chr8:110656169-110656180
8	KAP1	chr8:110655314-110656850	HEK293	kidney:	n/a	n/a
9	TBP	chr8:110655491-110656722	Hela-S3	cervix:	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
ENSG00000248050	TF binding region
SYBU	TF binding region
ENSG00000120526	Chromatin interaction
ENSG00000147654	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10090145	0.99[ASN][1000 genomes]
rs10505131	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10505132	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11774663	0.99[ASN][1000 genomes]
rs11986510	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11994796	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11998387	0.99[ASN][1000 genomes]
rs13256586	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13268243	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1573853	0.99[ASN][1000 genomes]
rs2702	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3108829	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3108832	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3108837	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3108840	0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs3108853	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3108854	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3108862	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3108863	0.92[EUR][1000 genomes]
rs3108864	0.92[EUR][1000 genomes]
rs3108865	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3108869	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3133926	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3133927	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3133935	0.90[ASN][1000 genomes]
rs3133936	0.88[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs3133937	0.89[ASN][1000 genomes]
rs3134314	0.91[ASN][1000 genomes]
rs3134317	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3134319	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3134325	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3134331	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6469275	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7008447	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[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:55 , 50 per page) page: 1 2

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	chr8:110653600-110656000	Weak transcription	Psoas Muscle	Psoas
4	chr8:110654000-110656200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr8:110654800-110656200	Active TSS	Fetal Brain Female	brain
6	chr8:110654800-110656400	Active TSS	GM12878-XiMat	blood
7	chr8:110654800-110661200	Active TSS	Brain Inferior Temporal Lobe	brain
8	chr8:110655000-110656200	Flanking Active TSS	HepG2	liver
9	chr8:110655000-110656800	Flanking Active TSS	K562	blood
10	chr8:110655000-110657600	Active TSS	Brain Anterior Caudate	brain
11	chr8:110655000-110657800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
12	chr8:110655200-110656000	Enhancers	Brain Substantia Nigra	brain
13	chr8:110655200-110656000	Weak transcription	Lung	lung
14	chr8:110655200-110656000	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
15	chr8:110655200-110656000	Flanking Active TSS	Hela-S3	cervix
16	chr8:110655200-110656200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr8:110655200-110656800	Flanking Active TSS	Adipose Nuclei	Adipose
18	chr8:110655200-110657800	Active TSS	Pancreas	Pancrea
19	chr8:110655200-110661200	Active TSS	Brain Angular Gyrus	brain
20	chr8:110655400-110656000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr8:110655400-110656000	Active TSS	Rectal Smooth Muscle	rectum
22	chr8:110655400-110656200	Active TSS	Stomach Smooth Muscle	stomach
23	chr8:110655400-110656200	Flanking Active TSS	NHEK	skin
24	chr8:110655400-110656400	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr8:110655400-110656400	Bivalent/Poised TSS	NHLF	lung
26	chr8:110655400-110657200	Active TSS	Liver	Liver
27	chr8:110655400-110658000	Active TSS	Duodenum Smooth Muscle	Duodenum
28	chr8:110655400-110658000	Active TSS	Pancreatic Islets	Pancreatic Islet
29	chr8:110655600-110656000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr8:110655600-110656000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr8:110655600-110656000	Weak transcription	Esophagus	oesophagus
32	chr8:110655600-110656000	Active TSS	Fetal Brain Male	brain
33	chr8:110655600-110656000	Enhancers	Fetal Intestine Small	intestine
34	chr8:110655600-110656000	Flanking Active TSS	A549	lung
35	chr8:110655600-110656000	Flanking Active TSS	HMEC	breast
36	chr8:110655600-110656200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
37	chr8:110655600-110656800	Flanking Active TSS	Duodenum Mucosa	Duodenum
38	chr8:110655600-110656800	Bivalent/Poised TSS	NHDF-Ad	bronchial
39	chr8:110655600-110657400	Active TSS	Brain Cingulate Gyrus	brain
40	chr8:110655600-110657600	Active TSS	Breast Myoepithelial Primary Cells	Breast
41	chr8:110655600-110658000	Active TSS	Right Atrium	heart
42	chr8:110655800-110656000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr8:110655800-110656000	Active TSS	Rectal Mucosa Donor 31	rectum
44	chr8:110655800-110656000	Bivalent/Poised TSS	Sigmoid Colon	Sigmoid Colon
45	chr8:110655800-110656000	Active TSS	Skeletal Muscle Male	skeletal muscle
46	chr8:110655800-110656000	Active TSS	Skeletal Muscle Female	skeletal muscle
47	chr8:110655800-110656000	Flanking Active TSS	Stomach Mucosa	stomach
48	chr8:110655800-110656200	Flanking Bivalent TSS/Enh	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr8:110655800-110656200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
50	chr8:110655800-110656200	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood

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