Variant report

Variant	rs12670773
Chromosome Location	chr7:100413426-100413427
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	POLR2A	chr7:100413317-100413709	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:100180828..100183630-chr7:100412153..100413841,2	MCF-7	breast:
2	chr7:100411612..100416367-chr7:100416758..100421985,7	MCF-7	breast:
3	chr7:100410343..100413835-chr7:100422249..100426210,7	MCF-7	breast:
4	chr7:100404674..100407253-chr7:100412910..100415943,3	MCF-7	breast:

Variant related genes	Relation type
EPHB4	TF binding region
ENSG00000263672	Chromatin interaction
ENSG00000077454	Chromatin interaction
ENSG00000196411	Chromatin interaction
ENSG00000106336	Chromatin interaction
ENSG00000146828	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs12531740	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12537212	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17147741	0.85[AMR][1000 genomes]
rs2247445	0.91[ASN][1000 genomes]
rs2247447	0.91[ASN][1000 genomes]
rs2250818	0.91[ASN][1000 genomes]
rs2293766	0.88[AMR][1000 genomes]
rs2553020	0.83[ASN][1000 genomes]
rs2553022	0.87[ASN][1000 genomes]
rs2571606	0.91[ASN][1000 genomes]
rs2571607	0.91[ASN][1000 genomes]
rs2571608	0.92[ASN][1000 genomes]
rs2571609	0.88[ASN][1000 genomes]
rs314319	0.81[ASN][1000 genomes]
rs314359	0.81[ASN][1000 genomes]
rs3847061	0.91[ASN][1000 genomes]
rs3857809	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3890144	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56872215	0.87[AMR][1000 genomes]
rs60141004	0.81[AFR][1000 genomes]
rs60224425	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60291880	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61320564	1.00[EUR][1000 genomes]
rs73413159	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7785074	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1829095	chr7:99814675-100494084	Bivalent Enhancer Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	393 gene(s)	inside rSNPs	diseases
2	nsv470381	chr7:100240191-100431980	Strong transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv1020837	chr7:100313122-100508635	Genic enhancers Weak transcription Active TSS Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
4	nsv888796	chr7:100313420-100423365	Genic enhancers Strong transcription Bivalent Enhancer Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	esv1832517	chr7:100355490-100749246	Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
6	esv2758125	chr7:100355490-100749246	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
7	esv2759547	chr7:100355490-100749246	Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
8	nsv464647	chr7:100374087-100497131	Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
9	nsv607965	chr7:100374087-100497131	Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
10	nsv1032673	chr7:100382250-100606794	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
11	nsv888797	chr7:100386900-100482026	Bivalent/Poised TSS Flanking Active TSS Enhancers Genic enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
12	nsv888798	chr7:100406144-100472826	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
13	nsv888799	chr7:100406144-100497131	Enhancers Bivalent Enhancer Active TSS Weak transcription Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
14	nsv967435	chr7:100406273-100422961	Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
15	nsv888800	chr7:100411278-100436446	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 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	chr7:100399600-100422200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr7:100399600-100422200	Strong transcription	iPS-15b Cell Line	embryonic stem cell
3	chr7:100399800-100422400	Strong transcription	H9 Cell Line	embryonic stem cell
4	chr7:100399800-100422400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr7:100400000-100422200	Strong transcription	HUES64 Cell Line	embryonic stem cell
6	chr7:100400400-100422200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
7	chr7:100401600-100420800	Weak transcription	Brain Angular Gyrus	brain
8	chr7:100401600-100421800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
9	chr7:100401600-100421800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr7:100401600-100422000	Strong transcription	H1 Cell Line	embryonic stem cell
11	chr7:100401600-100422000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr7:100401600-100422600	Strong transcription	HUES48 Cell Line	embryonic stem cell
13	chr7:100401600-100423200	Weak transcription	Brain Anterior Caudate	brain
14	chr7:100401800-100415800	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr7:100401800-100416600	Weak transcription	Stomach Mucosa	stomach
16	chr7:100401800-100419600	Weak transcription	Right Atrium	heart
17	chr7:100401800-100421400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr7:100401800-100421400	Strong transcription	Fetal Stomach	stomach
19	chr7:100401800-100422200	Weak transcription	Brain Cingulate Gyrus	brain
20	chr7:100401800-100422200	Weak transcription	Fetal Heart	heart
21	chr7:100401800-100422400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr7:100401800-100422400	Strong transcription	HUES6 Cell Line	embryonic stem cell
23	chr7:100401800-100422400	Strong transcription	Fetal Intestine Large	intestine
24	chr7:100401800-100422600	Weak transcription	Fetal Brain Male	brain
25	chr7:100401800-100422600	Strong transcription	Fetal Intestine Small	intestine
26	chr7:100401800-100423000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr7:100402000-100421200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr7:100402000-100421800	Strong transcription	Fetal Muscle Trunk	muscle
29	chr7:100402000-100421800	Strong transcription	NHEK	skin
30	chr7:100402000-100422000	Strong transcription	Fetal Muscle Leg	muscle
31	chr7:100402000-100422600	Strong transcription	Cortex derived primary cultured neurospheres	brain
32	chr7:100402000-100422600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr7:100402200-100418400	Strong transcription	Duodenum Mucosa	Duodenum
34	chr7:100402200-100418600	Strong transcription	Duodenum Smooth Muscle	Duodenum
35	chr7:100402200-100421600	Strong transcription	Adipose Nuclei	Adipose
36	chr7:100402200-100421600	Strong transcription	Stomach Smooth Muscle	stomach
37	chr7:100402200-100421800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr7:100402400-100419000	Strong transcription	Rectal Mucosa Donor 29	rectum
39	chr7:100402400-100422000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr7:100402400-100422000	Strong transcription	Fetal Lung	lung
41	chr7:100402600-100421800	Strong transcription	Lung	lung
42	chr7:100403200-100416400	Strong transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr7:100403200-100420000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr7:100403200-100422000	Strong transcription	Placenta Amnion	Placenta Amnion
45	chr7:100403400-100422400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr7:100403600-100421800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr7:100404000-100413600	Strong transcription	Muscle Satellite Cultured Cells	--
48	chr7:100405000-100420400	Strong transcription	HUVEC	blood vessel
49	chr7:100405800-100413600	Strong transcription	NH-A	brain
50	chr7:100406600-100417600	Weak transcription	Skeletal Muscle Male	skeletal muscle

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