Variant report

Variant	rs56108418
Chromosome Location	chr1:165795771-165795772
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	STAT3	chr1:165795722-165795804	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:165735886..165744990-chr1:165791702..165805629,42	K562	blood:
2	chr1:165795265..165796893-chr1:166808551..166810494,2	K562	blood:
3	chr1:165795600..165798299-chr1:165863664..165866486,4	MCF-7	breast:
4	chr1:165599775..165601444-chr1:165795750..165798255,2	K562	blood:
5	chr1:165735066..165739781-chr1:165794447..165799093,13	MCF-7	breast:
6	chr1:165736117..165742504-chr1:165795129..165799551,11	MCF-7	breast:
7	chr1:165795614..165797230-chr19:573717..575318,2	K562	blood:
8	chr1:165795260..165799386-chr1:165863983..165867487,4	K562	blood:
9	chr1:165564921..165568209-chr1:165795710..165798284,3	K562	blood:
10	chr1:165736523..165741866-chr1:165791420..165802380,26	K562	blood:
11	chr1:165598109..165601268-chr1:165795469..165798298,3	MCF-7	breast:

No data

Variant related genes	Relation type
UCK2	TF binding region
ENSG00000143183	Chromatin interaction
ENSG00000224358	Chromatin interaction
ENSG00000172270	Chromatin interaction
ENSG00000143157	Chromatin interaction
ENSG00000236206	Chromatin interaction
ENSG00000143179	Chromatin interaction
ENSG00000143198	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs10800160	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61802906	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2756102	chr1:165652342-165877342	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv1011720	chr1:165669589-165802516	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv517792	chr1:165785503-165811729	Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	31 gene(s)	inside rSNPs	diseases
4	esv2830094	chr1:165785503-165840411	Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:165790800-165796200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr1:165790800-165796200	Weak transcription	Right Atrium	heart
3	chr1:165790800-165796800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:165792800-165796200	Weak transcription	Pancreas	Pancrea
5	chr1:165793200-165795800	Weak transcription	Brain Angular Gyrus	brain
6	chr1:165793200-165796000	Weak transcription	Brain Anterior Caudate	brain
7	chr1:165793800-165795800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr1:165793800-165795800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr1:165793800-165795800	Weak transcription	Brain Substantia Nigra	brain
10	chr1:165793800-165796000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr1:165793800-165796000	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr1:165793800-165796000	Weak transcription	Brain Hippocampus Middle	brain
13	chr1:165793800-165796000	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr1:165793800-165796000	Weak transcription	K562	blood
15	chr1:165793800-165796200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr1:165793800-165796200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr1:165793800-165796200	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr1:165793800-165796200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr1:165793800-165796200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr1:165793800-165796200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr1:165793800-165796200	Weak transcription	HSMM	muscle
22	chr1:165793800-165796200	Weak transcription	Osteobl	bone
23	chr1:165793800-165796400	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr1:165794000-165796000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr1:165794000-165796200	Weak transcription	NHDF-Ad	bronchial
26	chr1:165794200-165796200	Weak transcription	Aorta	Aorta
27	chr1:165795400-165796000	Weak transcription	Fetal Intestine Small	intestine
28	chr1:165795600-165795800	Active TSS	Sigmoid Colon	Sigmoid Colon

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