Variant report

Variant	rs73714631
Chromosome Location	chr7:116964384-116964385
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	MXI1	chr7:116964336-116964467	H1-hESC	embryonic stem cell:	n/a	n/a
2	ZNF143	chr7:116964230-116964394	H1-hESC	embryonic stem cell:	n/a	n/a
3	ELF1	chr7:116963806-116964888	GM12878	blood:	n/a	chr7:116964443-116964452
4	MAX	chr7:116964022-116964729	ECC-1	luminal epithelium:	n/a	chr7:116964348-116964357 chr7:116964109-116964119
5	BACH1	chr7:116964056-116964737	H1-hESC	embryonic stem cell:	n/a	n/a
6	ATF2	chr7:116964177-116964448	GM12878	blood:	n/a	n/a
7	MAX	chr7:116963980-116964956	H1-hESC	embryonic stem cell:	n/a	chr7:116964348-116964357 chr7:116964109-116964119 chr7:116964744-116964753
8	SUZ12	chr7:116962277-116965143	H1-hESC	embryonic stem cell:	n/a	n/a
9	MAX	chr7:116964145-116964984	H1-hESC	embryonic stem cell:	n/a	chr7:116964348-116964357 chr7:116964744-116964753
10	E2F6	chr7:116964204-116964916	H1-hESC	embryonic stem cell:	n/a	chr7:116964749-116964759
11	POLR2A	chr7:116964121-116964681	Gliobla	brain:	n/a	n/a
12	CHD2	chr7:116964284-116964721	GM12878	blood:	n/a	n/a
13	CTBP2	chr7:116962972-116965005	H1-hESC	embryonic stem cell:	n/a	n/a
14	E2F6	chr7:116963866-116964961	H1-hESC	embryonic stem cell:	n/a	chr7:116964749-116964759
15	SUZ12	chr7:116962229-116965237	NT2-D1	testis:	n/a	n/a
16	MAZ	chr7:116963816-116964895	IMR90	lung:	n/a	chr7:116964348-116964357 chr7:116964109-116964119 chr7:116964744-116964753
17	MAX	chr7:116964003-116964685	ECC-1	luminal epithelium:	n/a	chr7:116964348-116964357 chr7:116964109-116964119
18	EBF1	chr7:116964167-116964468	GM12878	blood:	n/a	chr7:116964290-116964301
19	SIN3A	chr7:116963722-116964707	H1-hESC	embryonic stem cell:	n/a	chr7:116963823-116963837 chr7:116963965-116963976

No.	Distal block	Cell Line	Cell type	Cell Stage
1	7:116957165-116964911..7:117326534-117332210	H1-hESC	embryonic stem cell:	embryo

Variant related genes	Relation type
WNT2	TF binding region
ENSG00000001626	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11980583	1.00[EUR][1000 genomes]
rs11981502	1.00[EUR][1000 genomes]
rs11983151	1.00[EUR][1000 genomes]
rs17139469	1.00[EUR][1000 genomes]
rs2106627	1.00[EUR][1000 genomes]
rs4430033	1.00[EUR][1000 genomes]
rs60356864	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60412272	1.00[EUR][1000 genomes]
rs6967851	1.00[EUR][1000 genomes]
rs73470843	1.00[EUR][1000 genomes]
rs73714633	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73714637	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7804397	1.00[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	nsv608256	chr7:116928371-117040117	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:116962400-116965000	Active TSS	Brain Anterior Caudate	brain
2	chr7:116962400-116965200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
3	chr7:116962400-116965800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
4	chr7:116962600-116964600	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
5	chr7:116962600-116964800	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
6	chr7:116962600-116965000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
7	chr7:116962600-116965000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
8	chr7:116962600-116965000	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr7:116962600-116965000	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
10	chr7:116962600-116965200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
11	chr7:116962600-116965200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
12	chr7:116962600-116965200	Active TSS	Brain Substantia Nigra	brain
13	chr7:116962800-116964400	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
14	chr7:116962800-116964400	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
15	chr7:116962800-116964600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr7:116962800-116964600	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
17	chr7:116962800-116964600	Flanking Bivalent TSS/Enh	NHEK	skin
18	chr7:116962800-116964800	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr7:116962800-116964800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
20	chr7:116962800-116964800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr7:116962800-116964800	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr7:116962800-116964800	Active TSS	Pancreatic Islets	Pancreatic Islet
23	chr7:116962800-116964800	Flanking Active TSS	Pancreas	Pancrea
24	chr7:116962800-116965000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr7:116962800-116965000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr7:116962800-116965000	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr7:116962800-116965000	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr7:116962800-116965000	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr7:116962800-116965000	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
30	chr7:116962800-116965000	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
31	chr7:116962800-116965000	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
32	chr7:116962800-116965000	Bivalent/Poised TSS	NHDF-Ad	bronchial
33	chr7:116962800-116965200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr7:116963000-116964400	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
35	chr7:116963000-116964400	Bivalent/Poised TSS	A549	lung
36	chr7:116963000-116964800	Bivalent/Poised TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr7:116963000-116964800	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr7:116963000-116964800	Flanking Bivalent TSS/Enh	HUVEC	blood vessel
39	chr7:116963000-116965000	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr7:116963000-116965000	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
41	chr7:116963000-116965600	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr7:116963200-116964400	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr7:116963200-116964400	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
44	chr7:116963200-116964600	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr7:116963200-116964800	Bivalent/Poised TSS	HSMMtube	muscle
46	chr7:116963200-116965000	Active TSS	Aorta	Aorta
47	chr7:116963200-116965200	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
48	chr7:116963400-116964400	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
49	chr7:116963400-116964600	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr7:116963400-116964600	Flanking Bivalent TSS/Enh	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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