Variant report

Variant	rs59905170
Chromosome Location	chr8:110654928-110654929
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	CTCF	chr8:110654860-110655010	GM06990	blood:	n/a	chr8:110654928-110654937 chr8:110654905-110654913
2	CTCF	chr8:110654850-110655025	MCF-7	breast:	n/a	chr8:110654928-110654937 chr8:110654905-110654913
3	CTCF	chr8:110654860-110655010	GM12865	blood:	n/a	chr8:110654928-110654937 chr8:110654905-110654913
4	CTCF	chr8:110654860-110655010	GM12878	blood:	n/a	chr8:110654928-110654937 chr8:110654905-110654913
5	CTCF	chr8:110654820-110654970	HEK293	kidney:	n/a	chr8:110654928-110654937 chr8:110654905-110654913
6	YY1	chr8:110654760-110655094	GM12892	blood:	n/a	n/a
7	BHLHE40	chr8:110654773-110655271	GM12878	blood:	n/a	n/a
8	TBL1XR1	chr8:110654793-110655649	K562	blood:	n/a	n/a
9	CTCF	chr8:110654880-110655030	GM12875	blood:	n/a	chr8:110654928-110654937 chr8:110654905-110654913
10	BHLHE40	chr8:110654773-110655762	K562	blood:	n/a	n/a
11	CTCF	chr8:110654728-110655134	GM12878	blood:	n/a	chr8:110654928-110654937 chr8:110654905-110654913
12	CTCF	chr8:110654900-110655050	HCT-116	colon:	n/a	chr8:110654928-110654937 chr8:110654905-110654913
13	UBTF	chr8:110654910-110655094	K562	blood:	n/a	n/a
14	CTCF	chr8:110654840-110654990	GM12875	blood:	n/a	chr8:110654928-110654937 chr8:110654905-110654913
15	RAD21	chr8:110654812-110655054	H1-hESC	embryonic stem cell:	n/a	chr8:110654936-110654955
16	CTCF	chr8:110654891-110654963	Spleen_OC	spleen:	n/a	chr8:110654928-110654937 chr8:110654905-110654913
17	CTCF	chr8:110654840-110654990	GM12870	blood:	n/a	chr8:110654928-110654937 chr8:110654905-110654913
18	CTCF	chr8:110654775-110655170	K562	blood:	n/a	chr8:110654928-110654937 chr8:110654905-110654913
19	JUND	chr8:110654848-110655648	K562	blood:	n/a	chr8:110655457-110655465
20	CTCF	chr8:110654829-110655042	GM19238	blood:	n/a	chr8:110654928-110654937 chr8:110654905-110654913
21	CTCF	chr8:110654724-110655135	HepG2	liver:	n/a	chr8:110654928-110654937 chr8:110654905-110654913
22	E2F6	chr8:110654807-110655162	K562	blood:	n/a	n/a
23	CTCF	chr8:110654840-110654990	WERI-Rb-1	eye:	n/a	chr8:110654928-110654937 chr8:110654905-110654913
24	CTCF	chr8:110654860-110655010	GM12873	blood:	n/a	chr8:110654928-110654937 chr8:110654905-110654913
25	CTCF	chr8:110654860-110655010	HPAF	blood vessel:	n/a	chr8:110654928-110654937 chr8:110654905-110654913
26	CTCF	chr8:110654920-110655070	HCT-116	colon:	n/a	chr8:110654928-110654937
27	EP300	chr8:110654913-110655596	K562	blood:	n/a	n/a
28	CTCF	chr8:110654920-110655070	Caco-2	colon:	n/a	chr8:110654928-110654937
29	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
30	CTCF	chr8:110654800-110655085	GM12878	blood:	n/a	chr8:110654928-110654937 chr8:110654905-110654913
31	CTCF	chr8:110654820-110654970	GM12801	blood:	n/a	chr8:110654928-110654937 chr8:110654905-110654913
32	CTCF	chr8:110654820-110654970	HBMEC	blood vessel:	n/a	chr8:110654928-110654937 chr8:110654905-110654913
33	TBP	chr8:110654858-110655531	K562	blood:	n/a	n/a
34	CTCF	chr8:110654900-110655050	HPAF	blood vessel:	n/a	chr8:110654928-110654937 chr8:110654905-110654913
35	CTCF	chr8:110654875-110654986	HepG2	liver:	n/a	chr8:110654928-110654937 chr8:110654905-110654913
36	ZNF143	chr8:110654794-110655098	GM12878	blood:	n/a	chr8:110654854-110654863
37	ZMIZ1	chr8:110654797-110655329	K562	blood:	n/a	n/a
38	SMC3	chr8:110654792-110655045	HepG2	liver:	n/a	chr8:110654931-110654938
39	CTCF	chr8:110654880-110655030	GM12873	blood:	n/a	chr8:110654928-110654937 chr8:110654905-110654913
40	YY1	chr8:110654827-110655039	K562	blood:	n/a	n/a
41	CTCF	chr8:110654906-110654975	Pancreas_OC	pancreas:	n/a	chr8:110654928-110654937
42	CTCF	chr8:110654840-110654990	HPF	lung:	n/a	chr8:110654928-110654937 chr8:110654905-110654913
43	CTCF	chr8:110654842-110655033	GM13977	blood:	n/a	chr8:110654928-110654937 chr8:110654905-110654913
44	CTCF	chr8:110654840-110654990	HBMEC	blood vessel:	n/a	chr8:110654928-110654937 chr8:110654905-110654913
45	CTCF	chr8:110654776-110655111	K562	blood:	n/a	chr8:110654928-110654937 chr8:110654905-110654913
46	CTCF	chr8:110654920-110655070	MCF-7	breast:	n/a	chr8:110654928-110654937
47	CTCF	chr8:110654860-110655010	K562	blood:	n/a	chr8:110654928-110654937 chr8:110654905-110654913
48	CTCF	chr8:110654820-110654970	HCFaa	heart:	n/a	chr8:110654928-110654937 chr8:110654905-110654913
49	RCOR1	chr8:110654774-110655626	K562	blood:	n/a	n/a
50	WRNIP1	chr8:110654833-110655600	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:110344899..110348479-chr8:110652629..110655762,4	MCF-7	breast:
2	chr8:110551215..110554146-chr8:110654892..110657586,2	K562	blood:
3	chr8:110649169..110652040-chr8:110653790..110655530,2	K562	blood:
4	chr8:110550857..110553602-chr8:110653501..110657228,5	K562	blood:
5	chr8:110632763..110635475-chr8:110652459..110654978,2	K562	blood:

Variant related genes	Relation type
ENSG00000248050	TF binding region
ENSG00000147654	Chromatin interaction
ENSG00000120533	Chromatin interaction
ENSG00000120526	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs55680107	1.00[AFR][1000 genomes]
rs56266884	1.00[AFR][1000 genomes]
rs73700626	1.00[AFR][1000 genomes]
rs73700632	1.00[AFR][1000 genomes]
rs73700648	1.00[AFR][1000 genomes]
rs73700949	1.00[AFR][1000 genomes]
rs73704029	1.00[AFR][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:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:110623400-110655000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr8:110633200-110656000	Weak transcription	Gastric	stomach
3	chr8:110640200-110655200	Weak transcription	Brain Angular Gyrus	brain
4	chr8:110643800-110655400	Weak transcription	Rectal Smooth Muscle	rectum
5	chr8:110648200-110655600	Weak transcription	Brain Cingulate Gyrus	brain
6	chr8:110650600-110655600	Weak transcription	Right Atrium	heart
7	chr8:110650600-110656200	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr8:110651200-110655600	Weak transcription	Fetal Intestine Small	intestine
9	chr8:110652400-110655000	Weak transcription	HMEC	breast
10	chr8:110652400-110655000	Weak transcription	NHLF	lung
11	chr8:110652400-110655200	Weak transcription	NHEK	skin
12	chr8:110652400-110655400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr8:110652400-110655400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr8:110652600-110655000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr8:110652600-110655000	Weak transcription	Stomach Mucosa	stomach
16	chr8:110652800-110655000	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr8:110652800-110655200	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr8:110652800-110655800	Weak transcription	Colon Smooth Muscle	Colon
19	chr8:110653000-110655600	Weak transcription	A549	lung
20	chr8:110653400-110655400	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr8:110653600-110656000	Weak transcription	Psoas Muscle	Psoas
22	chr8:110653800-110655400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr8:110654000-110656200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr8:110654600-110655000	Weak transcription	Hela-S3	cervix
25	chr8:110654600-110655400	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr8:110654600-110655600	Enhancers	Fetal Brain Male	brain
27	chr8:110654800-110655000	Enhancers	Brain Anterior Caudate	brain
28	chr8:110654800-110655000	Genic enhancers	Stomach Smooth Muscle	stomach
29	chr8:110654800-110655000	Enhancers	HepG2	liver
30	chr8:110654800-110655000	Active TSS	K562	blood
31	chr8:110654800-110655200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr8:110654800-110655200	Enhancers	Adipose Nuclei	Adipose
33	chr8:110654800-110655200	Bivalent Enhancer	Left Ventricle	heart
34	chr8:110654800-110655200	Enhancers	Lung	lung
35	chr8:110654800-110655200	Flanking Active TSS	Pancreas	Pancrea
36	chr8:110654800-110655400	Flanking Active TSS	Liver	Liver
37	chr8:110654800-110655600	Enhancers	Esophagus	oesophagus
38	chr8:110654800-110656200	Active TSS	Fetal Brain Female	brain
39	chr8:110654800-110656400	Active TSS	GM12878-XiMat	blood
40	chr8:110654800-110661200	Active TSS	Brain Inferior Temporal Lobe	brain

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