Variant report

Variant	rs74118987
Chromosome Location	chr1:166136917-166136918
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	chr1:166136880-166137030	GM12869	blood:	n/a	n/a
2	CTCF	chr1:166136880-166137030	HRE	kidney:	n/a	n/a
3	CTCF	chr1:166136900-166137050	WERI-Rb-1	eye:	n/a	n/a
4	RAD21	chr1:166136723-166137207	H1-hESC	embryonic stem cell:	n/a	n/a
5	MYC	chr1:166136904-166136952	K562	blood:	n/a	n/a
6	CTCF	chr1:166136910-166137050	GM13977	blood:	n/a	n/a
7	CTCF	chr1:166136840-166136990	HMF	breast:	n/a	n/a
8	MYC	chr1:166136568-166137023	MCF10A-Er-Src	breast:	n/a	n/a
9	CTCF	chr1:166136840-166136990	HEK293	kidney:	n/a	n/a
10	RAD21	chr1:166136431-166137188	H1-hESC	embryonic stem cell:	n/a	n/a
11	CTCF	chr1:166136900-166137050	RPTEC	kidney:	n/a	n/a
12	CTCF	chr1:166136900-166137050	NHEK	skin:	n/a	n/a
13	CTCF	chr1:166136900-166137050	GM12878	blood:	n/a	n/a
14	CTCF	chr1:166136860-166137010	HMF	breast:	n/a	n/a
15	CTCF	chr1:166136900-166137050	GM12873	blood:	n/a	n/a
16	RAD21	chr1:166136855-166137166	H1-hESC	embryonic stem cell:	n/a	n/a
17	CTCF	chr1:166136897-166137083	GM12878	blood:	n/a	n/a
18	ZNF143	chr1:166135379-166137147	GM12878	blood:	n/a	chr1:166135776-166135786 chr1:166135769-166135779 chr1:166136260-166136278 chr1:166136119-166136137
19	SMC3	chr1:166136376-166136993	GM12878	blood:	n/a	chr1:166136412-166136426
20	MTA3	chr1:166136385-166137001	GM12878	blood:	n/a	n/a
21	CTCF	chr1:166135846-166137192	GM12878	blood:	n/a	chr1:166136150-166136163 chr1:166136412-166136425
22	MAX	chr1:166136040-166137217	GM12878	blood:	n/a	chr1:166136334-166136343 chr1:166136335-166136342 chr1:166136336-166136345 chr1:166136269-166136279
23	CTCF	chr1:166136806-166137112	H1-hESC	embryonic stem cell:	n/a	n/a
24	STAT3	chr1:166136487-166136976	MCF10A-Er-Src	breast:	n/a	n/a
25	RAD21	chr1:166136846-166137157	GM12878	blood:	n/a	n/a
26	EP300	chr1:166136899-166136953	K562	blood:	n/a	n/a
27	CTCF	chr1:166136880-166137030	GM12874	blood:	n/a	n/a
28	BHLHE40	chr1:166135820-166137405	GM12878	blood:	n/a	chr1:166136078-166136094
29	FOS	chr1:166136693-166137331	MCF10A-Er-Src	breast:	n/a	n/a
30	EBF1	chr1:166136669-166136964	GM12878	blood:	n/a	n/a
31	CTCF	chr1:166136917-166137079	Medullo	brain:	n/a	n/a
32	RAD21	chr1:166136836-166137077	GM12878	blood:	n/a	n/a
33	GATA3	chr1:166136873-166137061	SH-SY5Y	brain:	n/a	n/a
34	WRNIP1	chr1:166136558-166137613	GM12878	blood:	n/a	n/a
35	CTCF	chr1:166136900-166137050	HMEC	breast:	n/a	n/a
36	MAZ	chr1:166135856-166137106	GM12878	blood:	n/a	chr1:166136334-166136343 chr1:166136335-166136342 chr1:166136336-166136345 chr1:166136269-166136279

Variant related genes	Relation type
ENSG00000230898	TF binding region
FAM78B	TF binding region

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs57219135	1.00[AMR][1000 genomes]
rs59059310	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74118970	1.00[AMR][1000 genomes]
rs74118971	1.00[AMR][1000 genomes]
rs74118973	1.00[AMR][1000 genomes]
rs74118974	1.00[AMR][1000 genomes]
rs74118975	1.00[AMR][1000 genomes]
rs74118978	1.00[AMR][1000 genomes]
rs74118979	1.00[AMR][1000 genomes]
rs74118980	1.00[AMR][1000 genomes]
rs74118986	1.00[AMR][1000 genomes]
rs74118991	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916491	chr1:166000783-166948513	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	esv3332610	chr1:166111288-166282689	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
3	esv3356306	chr1:166134753-166137301	Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	esv3380611	chr1:166135003-166137251	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	esv3328889	chr1:166135153-166137701	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:166134000-166137000	Active TSS	Psoas Muscle	Psoas
2	chr1:166134200-166137000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
3	chr1:166134400-166137000	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr1:166134400-166137000	Active TSS	Left Ventricle	heart
5	chr1:166135400-166137000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr1:166135400-166137000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr1:166135400-166137000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr1:166135400-166137000	Bivalent/Poised TSS	Fetal Muscle Trunk	muscle
9	chr1:166135400-166137200	Active TSS	Rectal Smooth Muscle	rectum
10	chr1:166135600-166137000	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
11	chr1:166135600-166137000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr1:166135600-166137000	Active TSS	Right Atrium	heart
13	chr1:166135800-166137000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr1:166135800-166137000	Active TSS	Colonic Mucosa	Colon
15	chr1:166135800-166137000	Active TSS	Right Ventricle	heart
16	chr1:166136000-166137000	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr1:166136000-166137000	Active TSS	NHDF-Ad	bronchial
18	chr1:166136400-166137000	Bivalent/Poised TSS	Primary T cells from cord blood	blood
19	chr1:166136400-166137000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr1:166136400-166137000	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr1:166136400-166137000	Bivalent/Poised TSS	Fetal Brain Male	brain
22	chr1:166136400-166137000	Bivalent/Poised TSS	Fetal Kidney	kidney
23	chr1:166136400-166137000	Flanking Active TSS	HMEC	breast
24	chr1:166136400-166137200	Flanking Active TSS	Adipose Nuclei	Adipose
25	chr1:166136400-166137200	Flanking Active TSS	Liver	Liver
26	chr1:166136400-166137200	Flanking Active TSS	Duodenum Mucosa	Duodenum
27	chr1:166136400-166137400	Enhancers	Small Intestine	intestine
28	chr1:166136600-166137000	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
29	chr1:166136600-166137000	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
30	chr1:166136600-166137000	Flanking Active TSS	H9 Cell Line	embryonic stem cell
31	chr1:166136600-166137000	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
32	chr1:166136600-166137000	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
33	chr1:166136600-166137000	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
34	chr1:166136600-166137000	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
35	chr1:166136600-166137000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr1:166136600-166137000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
37	chr1:166136600-166137000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr1:166136600-166137000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr1:166136600-166137000	Flanking Active TSS	Brain Angular Gyrus	brain
40	chr1:166136600-166137000	Flanking Active TSS	Brain Anterior Caudate	brain
41	chr1:166136600-166137000	Flanking Active TSS	Brain Cingulate Gyrus	brain
42	chr1:166136600-166137000	Active TSS	Brain Germinal Matrix	brain
43	chr1:166136600-166137000	Flanking Active TSS	Brain Hippocampus Middle	brain
44	chr1:166136600-166137000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
45	chr1:166136600-166137000	Flanking Active TSS	Brain Substantia Nigra	brain
46	chr1:166136600-166137000	Bivalent/Poised TSS	Fetal Brain Female	brain
47	chr1:166136600-166137000	Flanking Active TSS	Fetal Intestine Small	intestine
48	chr1:166136600-166137000	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
49	chr1:166136600-166137000	Flanking Active TSS	Ovary	ovary
50	chr1:166136600-166137000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum

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