Variant report

Variant	rs73678522
Chromosome Location	chr7:12724742-12724743
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	CTCF	chr7:12724539-12727741	A549	lung:	n/a	n/a
2	MXI1	chr7:12724741-12727781	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:12722443..12725093-chr7:12726183..12729651,3	K562	blood:
2	chr7:12724061..12726495-chr7:12959611..12962564,2	K562	blood:

Variant related genes	Relation type
ENSG00000271253	TF binding region
ARL4A	TF binding region
ENSG00000230879	Chromatin interaction
ENSG00000122644	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs13438781	1.00[ASN][1000 genomes]
rs73678521	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73678524	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73678525	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024554	chr7:12214722-12967418	Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv538735	chr7:12214722-12967418	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription 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 target site	58 gene(s)	inside rSNPs	diseases
3	nsv830907	chr7:12661239-12818250	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv932020	chr7:12676890-13239551	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
5	nsv830908	chr7:12695007-12870475	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
6	esv1794967	chr7:12710385-12758624	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	n/a
7	nsv868830	chr7:12712753-13517417	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:12721000-12725200	Weak transcription	K562	blood
2	chr7:12721600-12726000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr7:12722200-12726000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr7:12722400-12725000	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr7:12723200-12724800	Enhancers	A549	lung
6	chr7:12723600-12725200	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr7:12723800-12725400	Enhancers	Placenta	Placenta
8	chr7:12723800-12725400	Weak transcription	Osteobl	bone
9	chr7:12723800-12725800	Weak transcription	HepG2	liver
10	chr7:12724000-12725400	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr7:12724000-12725400	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr7:12724000-12725400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr7:12724000-12725400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr7:12724000-12726000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr7:12724000-12726000	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr7:12724200-12725400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr7:12724200-12725600	Weak transcription	Hela-S3	cervix
18	chr7:12724200-12726000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr7:12724400-12724800	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr7:12724400-12725800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr7:12724600-12726000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr7:12724600-12726000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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