Variant report

Variant	rs12112160
Chromosome Location	chr7:5629483-5629484
allele	A/G
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	RUNX3	chr7:5629449-5629828	GM12878	blood:	n/a	n/a
2	ZNF384	chr7:5629433-5629709	GM12878	blood:	n/a	n/a
3	RUNX3	chr7:5629404-5629865	GM12878	blood:	n/a	n/a
4	ELF1	chr7:5629482-5629924	GM12878	blood:	n/a	n/a
5	EBF1	chr7:5629483-5630151	GM12878	blood:	n/a	chr7:5629658-5629669 chr7:5629635-5629645 chr7:5629636-5629645 chr7:5629634-5629647 chr7:5629634-5629645 chr7:5629636-5629645
6	EBF1	chr7:5629426-5629891	GM12878	blood:	n/a	chr7:5629658-5629669 chr7:5629635-5629645 chr7:5629636-5629645 chr7:5629634-5629647 chr7:5629634-5629645 chr7:5629636-5629645
7	EBF1	chr7:5629466-5629790	GM12878	blood:	n/a	chr7:5629658-5629669 chr7:5629635-5629645 chr7:5629636-5629645 chr7:5629634-5629647 chr7:5629634-5629645 chr7:5629636-5629645
8	NFIC	chr7:5629472-5629836	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:5628308..5629929-chr7:5632312..5633961,2	MCF-7	breast:

Variant related genes	Relation type
FSCN1	TF binding region
ENSG00000075618	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs6956890	1.00[CEU][hapmap]
rs73673196	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7805164	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869165	chr7:4889618-5799719	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	352 gene(s)	inside rSNPs	diseases
2	nsv530979	chr7:5101631-5864814	Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	350 gene(s)	inside rSNPs	diseases
3	nsv530981	chr7:5157150-5920006	Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	348 gene(s)	inside rSNPs	diseases
4	esv1814049	chr7:5314993-5675131	Active TSS Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	333 gene(s)	inside rSNPs	diseases
5	esv1820266	chr7:5332088-5665173	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	332 gene(s)	inside rSNPs	diseases
6	nsv530983	chr7:5370746-6070852	Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	368 gene(s)	inside rSNPs	diseases
7	nsv887404	chr7:5402606-5667645	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	331 gene(s)	inside rSNPs	diseases
8	nsv916391	chr7:5417945-5889565	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	336 gene(s)	inside rSNPs	diseases
9	nsv887408	chr7:5432672-5667645	Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	331 gene(s)	inside rSNPs	diseases
10	nsv830890	chr7:5464933-5705158	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
11	nsv533108	chr7:5488018-6316581	Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	390 gene(s)	inside rSNPs	diseases
12	nsv1025434	chr7:5537571-5705283	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	297 gene(s)	inside rSNPs	diseases
13	nsv482449	chr7:5557585-5743673	Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	294 gene(s)	inside rSNPs	diseases
14	nsv1033556	chr7:5565080-6186815	Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	357 gene(s)	inside rSNPs	diseases
15	nsv538710	chr7:5565080-6186815	Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	357 gene(s)	inside rSNPs	diseases
16	nsv887414	chr7:5584934-5667645	Flanking Bivalent TSS/Enh Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
17	nsv887415	chr7:5584934-5675305	Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
18	nsv887416	chr7:5584934-5695259	Genic enhancers Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
19	nsv530467	chr7:5617816-5815082	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:5619400-5629800	Weak transcription	Spleen	Spleen
2	chr7:5619400-5631000	Weak transcription	K562	blood
3	chr7:5621000-5631000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr7:5621000-5631000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr7:5621000-5631200	Weak transcription	Right Ventricle	heart
6	chr7:5621000-5631600	Weak transcription	Pancreas	Pancrea
7	chr7:5621200-5631400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr7:5621400-5631000	Weak transcription	Ovary	ovary
9	chr7:5623200-5629800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr7:5624400-5631200	Weak transcription	Adipose Nuclei	Adipose
11	chr7:5625000-5631200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr7:5625600-5629600	Weak transcription	GM12878-XiMat	blood
13	chr7:5626200-5631600	Weak transcription	Brain Angular Gyrus	brain
14	chr7:5626400-5630200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr7:5626400-5631000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr7:5626600-5629600	Weak transcription	Brain Cingulate Gyrus	brain
17	chr7:5626800-5631200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr7:5627000-5631200	Weak transcription	Brain Anterior Caudate	brain
19	chr7:5628400-5631200	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr7:5628400-5631200	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr7:5628600-5629600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr7:5628600-5629600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr7:5628600-5629600	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr7:5628600-5629600	Weak transcription	Placenta	Placenta
25	chr7:5628600-5630000	Weak transcription	Hela-S3	cervix
26	chr7:5628600-5630600	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr7:5628600-5630800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr7:5628600-5630800	Weak transcription	NHDF-Ad	bronchial
29	chr7:5628600-5631000	Enhancers	HepG2	liver
30	chr7:5629200-5631200	Enhancers	Brain Hippocampus Middle	brain
31	chr7:5629400-5629800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr7:5629400-5629800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr7:5629400-5630400	Enhancers	Primary hematopoietic stem cells short term culture	blood
34	chr7:5629400-5631200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr7:5629400-5631200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr7:5629400-5631600	Enhancers	Brain Substantia Nigra	brain
37	chr7:5629400-5632400	Enhancers	Primary hematopoietic stem cells	blood

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