Variant report

Variant	rs56106062
Chromosome Location	chr8:110549627-110549628
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	USF1	chr8:110549468-110549635	HepG2	liver:	n/a	chr8:110549569-110549580
2	BHLHE40	chr8:110549436-110549690	K562	blood:	n/a	n/a
3	MAX	chr8:110549354-110549745	H1-hESC	embryonic stem cell:	n/a	n/a
4	USF1	chr8:110549364-110549709	H1-hESC	embryonic stem cell:	n/a	chr8:110549569-110549580
5	USF1	chr8:110549384-110549828	K562	blood:	n/a	chr8:110549569-110549580
6	TAF1	chr8:110549363-110549755	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr8:110549572-110549651	H1-hESC	embryonic stem cell:	n/a	n/a
8	MAX	chr8:110549451-110549675	H1-hESC	embryonic stem cell:	n/a	n/a
9	USF1	chr8:110549427-110549690	HepG2	liver:	n/a	chr8:110549569-110549580
10	USF1	chr8:110549479-110549736	SK-N-SH_RA	brain:	n/a	chr8:110549569-110549580
11	USF2	chr8:110549517-110549663	HepG2	liver:	n/a	n/a
12	USF2	chr8:110549409-110549731	H1-hESC	embryonic stem cell:	n/a	n/a
13	USF1	chr8:110549354-110549820	H1-hESC	embryonic stem cell:	n/a	chr8:110549569-110549580

No.	Distal block	Cell Line	Cell type
1	chr8:110346524..110348211-chr8:110547153..110549713,2	K562	blood:
2	chr8:110356416..110359294-chr8:110548274..110550933,2	MCF-7	breast:
3	chr8:110344871..110348245-chr8:110549404..110554651,7	MCF-7	breast:
4	chr8:110490813..110493110-chr8:110549363..110552380,3	MCF-7	breast:
5	chr8:110549295..110551335-chr8:110575398..110578462,3	K562	blood:

Variant related genes	Relation type
EBAG9	TF binding region
ENSG00000205038	Chromatin interaction
ENSG00000120533	Chromatin interaction
ENSG00000120526	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10441509	1.00[EUR][1000 genomes]
rs16879659	1.00[EUR][1000 genomes]
rs16879674	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16879693	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16879696	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16918465	1.00[EUR][1000 genomes]
rs1824191	1.00[EUR][1000 genomes]
rs2124979	1.00[EUR][1000 genomes]
rs56810186	1.00[EUR][1000 genomes]
rs57080527	1.00[EUR][1000 genomes]
rs57175707	1.00[EUR][1000 genomes]
rs57556233	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57608746	1.00[EUR][1000 genomes]
rs58602890	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60917031	1.00[EUR][1000 genomes]
rs61247948	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73700614	1.00[EUR][1000 genomes]
rs73700615	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73700627	1.00[EUR][1000 genomes]
rs73700631	1.00[EUR][1000 genomes]
rs73704014	1.00[EUR][1000 genomes]
rs73704021	1.00[EUR][1000 genomes]
rs73704027	1.00[EUR][1000 genomes]
rs73704033	1.00[EUR][1000 genomes]
rs73704041	1.00[EUR][1000 genomes]
rs73704044	0.89[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	nsv891281	chr8:110450092-110558622	Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:110543200-110550600	Weak transcription	GM12878-XiMat	blood
2	chr8:110543600-110551200	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr8:110544400-110550800	Weak transcription	Primary B cells from peripheral blood	blood
4	chr8:110545600-110551200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr8:110546800-110549800	Enhancers	Fetal Lung	lung
6	chr8:110547400-110550600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr8:110547400-110550800	Weak transcription	Duodenum Mucosa	Duodenum
8	chr8:110547400-110551200	Weak transcription	Fetal Intestine Small	intestine
9	chr8:110547600-110550600	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr8:110547800-110550000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr8:110547800-110551000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr8:110548000-110551200	Weak transcription	NHEK	skin
13	chr8:110548200-110551000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr8:110548200-110551000	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr8:110548200-110551000	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr8:110548200-110551000	Weak transcription	Hela-S3	cervix
17	chr8:110548400-110550000	Enhancers	K562	blood
18	chr8:110548400-110550600	Weak transcription	Fetal Brain Female	brain
19	chr8:110548400-110550800	Weak transcription	Colonic Mucosa	Colon
20	chr8:110548400-110551000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr8:110548400-110551000	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr8:110548400-110551200	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr8:110548400-110551200	Weak transcription	HSMMtube	muscle
24	chr8:110548600-110551200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr8:110549200-110549800	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr8:110549200-110550000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr8:110549400-110549800	Enhancers	H1 Cell Line	embryonic stem cell
28	chr8:110549400-110549800	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr8:110549400-110549800	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr8:110549400-110549800	Enhancers	iPS-20b Cell Line	embryonic stem cell
31	chr8:110549400-110550200	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr8:110549600-110549800	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr8:110549600-110549800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
34	chr8:110549600-110550200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr8:110549600-110550800	Weak transcription	Fetal Brain Male	brain
36	chr8:110549600-110551000	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr8:110549600-110551000	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr8:110549600-110551000	Enhancers	Brain Germinal Matrix	brain
39	chr8:110549600-110551400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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