Variant report

Variant	rs11505847
Chromosome Location	chr7:99734661-99734662
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs11771139	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1880949	0.83[AMR][1000 genomes]
rs35146811	0.82[AMR][1000 genomes]
rs35991721	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11505847	STAG3	cis	brain	BrainEAC
rs11505847	PVRIG	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:99728800-99735400	Weak transcription	Primary T cells from cord blood	blood
2	chr7:99728800-99735400	Weak transcription	Primary T helper cells fromperipheralblood	blood
3	chr7:99728800-99735400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr7:99728800-99735600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr7:99728800-99740000	Weak transcription	Colonic Mucosa	Colon
6	chr7:99728800-99746000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr7:99730400-99735400	Weak transcription	Placenta	Placenta
8	chr7:99730600-99735200	Weak transcription	GM12878-XiMat	blood
9	chr7:99730600-99735600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr7:99730600-99738600	Weak transcription	Hela-S3	cervix
11	chr7:99730800-99735400	Weak transcription	Primary neutrophils fromperipheralblood	blood
12	chr7:99730800-99735400	Weak transcription	Primary B cells from peripheral blood	blood
13	chr7:99730800-99735400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr7:99730800-99735400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr7:99730800-99735600	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr7:99730800-99735600	Weak transcription	Thymus	Thymus
17	chr7:99731000-99735200	Weak transcription	Fetal Thymus	thymus
18	chr7:99731000-99735400	Weak transcription	Primary B cells from cord blood	blood
19	chr7:99731000-99745600	Weak transcription	Pancreas	Pancrea

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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