Variant report

Variant	rs11979397
Chromosome Location	chr7:99738879-99738880
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	FOS	chr7:99738876-99739180	MCF10A-Er-Src	breast:	n/a	chr7:99739027-99739038

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:99734202..99739266-chr7:99744673..99748688,7	MCF-7	breast:
2	chr7:99737883..99740607-chr7:99754940..99757198,2	K562	blood:

Variant related genes	Relation type
RPL7P60	TF binding region
ENSG00000146826	Chromatin interaction
ENSG00000188186	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs12539985	0.98[ASN][1000 genomes]
rs62482167	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6975031	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1829865	chr7:99430678-99755141	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1131 gene(s)	inside rSNPs	diseases
2	esv1830649	chr7:99430678-99755141	Strong transcription Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1131 gene(s)	inside rSNPs	diseases
3	nsv534298	chr7:99478011-99886076	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1132 gene(s)	inside rSNPs	diseases
4	nsv469687	chr7:99572543-99755141	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1115 gene(s)	inside rSNPs	diseases
5	nsv482601	chr7:99572543-99755141	Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1115 gene(s)	inside rSNPs	diseases
6	nsv607931	chr7:99664817-99796146	Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1097 gene(s)	inside rSNPs	diseases
7	esv1798486	chr7:99689883-99930879	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers 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	1085 gene(s)	inside rSNPs	diseases
8	esv1833059	chr7:99689883-99930879	Flanking Active TSS Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1085 gene(s)	inside rSNPs	diseases
9	nsv966865	chr7:99735585-99740478	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11979397	AP4M1	cis	Artery Tibial	GTEx

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:99728800-99740000	Weak transcription	Colonic Mucosa	Colon
2	chr7:99728800-99746000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr7:99731000-99745600	Weak transcription	Pancreas	Pancrea
4	chr7:99736000-99739000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr7:99736200-99739000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr7:99736200-99739000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr7:99736200-99741800	Weak transcription	Thymus	Thymus
8	chr7:99736200-99745800	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr7:99736400-99739000	Weak transcription	Duodenum Mucosa	Duodenum
10	chr7:99736400-99739000	Weak transcription	NHEK	skin
11	chr7:99736400-99739200	Weak transcription	Fetal Intestine Small	intestine
12	chr7:99736400-99739200	Weak transcription	Fetal Thymus	thymus
13	chr7:99736400-99745600	Weak transcription	Primary T helper cells PMA-I stimulated	--
14	chr7:99736800-99739200	Weak transcription	Primary B cells from peripheral blood	blood
15	chr7:99738000-99740200	Enhancers	Placenta	Placenta
16	chr7:99738400-99740000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
17	chr7:99738600-99739200	Enhancers	Monocytes-CD14+_RO01746	blood
18	chr7:99738600-99739600	Enhancers	Hela-S3	cervix
19	chr7:99738600-99740400	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr7:99738800-99739200	Enhancers	Rectal Mucosa Donor 29	rectum
21	chr7:99738800-99739400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr7:99738800-99739400	Enhancers	Stomach Mucosa	stomach
23	chr7:99738800-99739400	Enhancers	GM12878-XiMat	blood
24	chr7:99738800-99740600	Enhancers	Primary B cells from cord blood	blood
25	chr7:99738800-99741000	Enhancers	Rectal Mucosa Donor 31	rectum

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