Variant report

Variant	rs17183761
Chromosome Location	chr4:57937601-57937602
allele	A/C
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	FOS	chr4:57937519-57937805	MCF10A-Er-Src	breast:	n/a	n/a
2	CEBPB	chr4:57937527-57937867	HepG2	liver:	n/a	chr4:57937683-57937694 chr4:57937652-57937663
3	MAX	chr4:57937482-57937939	NB4	blood:	n/a	n/a
4	MXI1	chr4:57937141-57938110	IMR90	lung:	n/a	n/a
5	FOS	chr4:57937485-57937821	MCF10A-Er-Src	breast:	n/a	n/a
6	MYC	chr4:57937541-57937811	MCF10A-Er-Src	breast:	n/a	n/a
7	FOS	chr4:57937559-57937752	MCF10A-Er-Src	breast:	n/a	n/a
8	KAP1	chr4:57936665-57937892	HEK293	kidney:	n/a	n/a
9	CEBPB	chr4:57937491-57937863	Hela-S3	cervix:	n/a	chr4:57937683-57937694 chr4:57937652-57937663
10	CEBPB	chr4:57937405-57937922	A549	lung:	n/a	chr4:57937683-57937694 chr4:57937652-57937663
11	CEBPB	chr4:57937468-57937931	IMR90	lung:	n/a	chr4:57937683-57937694 chr4:57937652-57937663
12	MYC	chr4:57937535-57937913	NB4	blood:	n/a	n/a
13	RCOR1	chr4:57937081-57938149	IMR90	lung:	n/a	n/a
14	POLR2A	chr4:57937402-57937860	U87	brain:	n/a	n/a
15	CEBPB	chr4:57937501-57937856	A549	lung:	n/a	chr4:57937683-57937694 chr4:57937652-57937663
16	MYC	chr4:57937559-57937796	MCF10A-Er-Src	breast:	n/a	n/a
17	STAT3	chr4:57937566-57937764	MCF10A-Er-Src	breast:	n/a	chr4:57937716-57937727

Variant related genes	Relation type
UBE2CP3	TF binding region

Extended variants
information (count: 6 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs13108418	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13141288	0.84[EUR][1000 genomes]
rs17087487	0.93[GIH][hapmap]
rs4611988	1.00[ASW][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv868815	chr4:57114268-58084688	Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
2	esv3393902	chr4:57935600-57939401	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region CpG island	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs17183761	CLOCK	cis	cerebellum	SCAN
rs17183761	CEP135	cis	cerebellum	SCAN

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:57899600-57942200	Weak transcription	Primary hematopoietic stem cells	blood
2	chr4:57929600-57944400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr4:57931600-57940600	Weak transcription	Hela-S3	cervix
4	chr4:57931800-57938800	Weak transcription	Pancreas	Pancrea
5	chr4:57932400-57945600	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr4:57932400-57947600	Genic enhancers	Osteobl	bone
7	chr4:57932600-57944000	Weak transcription	Fetal Stomach	stomach
8	chr4:57934400-57951600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr4:57934600-57948200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr4:57935200-57937800	Enhancers	Aorta	Aorta
11	chr4:57935600-57944000	Weak transcription	Fetal Thymus	thymus
12	chr4:57935800-57937800	Weak transcription	Lung	lung
13	chr4:57935800-57938800	Weak transcription	Right Ventricle	heart
14	chr4:57935800-57940000	Weak transcription	Spleen	Spleen
15	chr4:57935800-57941000	Weak transcription	HUVEC	blood vessel
16	chr4:57935800-57945000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr4:57935800-57948000	Weak transcription	Fetal Muscle Leg	muscle
18	chr4:57936000-57938000	Enhancers	HMEC	breast
19	chr4:57936200-57938000	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr4:57936200-57938000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr4:57936200-57938800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr4:57936200-57945000	Weak transcription	Fetal Muscle Trunk	muscle
23	chr4:57936400-57938000	Enhancers	NHEK	skin
24	chr4:57936400-57939200	Enhancers	A549	lung
25	chr4:57936400-57942000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr4:57936600-57937800	Enhancers	Pancreatic Islets	Pancreatic Islet
27	chr4:57936600-57938000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr4:57936600-57938000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr4:57936800-57937800	Enhancers	Brain Anterior Caudate	brain
30	chr4:57936800-57938000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr4:57936800-57938000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr4:57936800-57938000	Enhancers	Brain Hippocampus Middle	brain
33	chr4:57936800-57938000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
34	chr4:57936800-57938000	Enhancers	Fetal Lung	lung
35	chr4:57936800-57938000	Enhancers	Monocytes-CD14+_RO01746	blood
36	chr4:57936800-57938000	Enhancers	NHLF	lung
37	chr4:57936800-57938800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr4:57937000-57938000	Enhancers	Primary hematopoietic stem cells short term culture	blood
39	chr4:57937000-57938200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr4:57937200-57937800	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr4:57937200-57937800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr4:57937200-57937800	Enhancers	Primary neutrophils fromperipheralblood	blood
43	chr4:57937200-57937800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
44	chr4:57937200-57937800	Enhancers	Adipose Nuclei	Adipose
45	chr4:57937200-57937800	Enhancers	Colon Smooth Muscle	Colon
46	chr4:57937200-57937800	Enhancers	Ovary	ovary
47	chr4:57937200-57938000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr4:57937200-57938000	Enhancers	HSMMtube	muscle
49	chr4:57937200-57939200	Enhancers	Fetal Heart	heart
50	chr4:57937200-57939600	Enhancers	Right Atrium	heart

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