Variant report

Variant	rs7799441
Chromosome Location	chr7:99776272-99776273
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:99723966..99726705-chr7:99773626..99776513,3	K562	blood:
2	chr7:99754180..99757947-chr7:99773944..99778293,5	K562	blood:
3	chr7:99753430..99757124-chr7:99772344..99777147,8	MCF-7	breast:
4	chr7:99775736..99777302-chr7:99796060..99798252,2	K562	blood:
5	chr7:99751463..99761050-chr7:99772463..99778676,10	K562	blood:

Variant related genes	Relation type
ENSG00000214309	Chromatin interaction
ENSG00000266154	Chromatin interaction
ENSG00000066923	Chromatin interaction
ENSG00000146826	Chromatin interaction
ENSG00000242798	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10953295	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12705073	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1624099	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1727128	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1727129	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1727143	0.83[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs1727145	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1859787	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2246713	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2906646	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2950518	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3735241	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3735242	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4299940	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4729580	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs66809776	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs705867	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs858502	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs858510	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs941287	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][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	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
2	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
3	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
4	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
5	esv3350965	chr7:99747460-100146105	Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	304 gene(s)	inside rSNPs	diseases
6	nsv427794	chr7:99750981-99960900	Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
7	nsv428180	chr7:99750981-99960900	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
8	nsv5867	chr7:99766774-99799755	Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7799441	PVRIG	Cis_1M	lymphoblastoid	RTeQTL
rs7799441	AP4M1	cis	Thyroid	GTEx

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:99775000-99778200	Weak transcription	K562	blood
2	chr7:99775000-99780600	Enhancers	Primary T cells from cord blood	blood
3	chr7:99775400-99777000	Enhancers	Primary T killer memory cells from peripheral blood	blood
4	chr7:99775600-99776600	Enhancers	Primary B cells from peripheral blood	blood
5	chr7:99775800-99776400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
6	chr7:99775800-99778000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr7:99775800-99778000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr7:99775800-99778000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr7:99775800-99779400	Enhancers	Primary T cells fromperipheralblood	blood
10	chr7:99775800-99787600	Weak transcription	GM12878-XiMat	blood
11	chr7:99775800-99798000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr7:99776000-99776400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr7:99776000-99776400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr7:99776000-99776400	Weak transcription	Duodenum Mucosa	Duodenum
15	chr7:99776000-99777200	Weak transcription	Dnd41	blood
16	chr7:99776000-99777600	Weak transcription	Thymus	Thymus
17	chr7:99776000-99778000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr7:99776000-99778000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr7:99776000-99778000	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr7:99776000-99778200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr7:99776000-99780400	Enhancers	Fetal Thymus	thymus
22	chr7:99776200-99776600	Weak transcription	Primary T helper cells fromperipheralblood	blood
23	chr7:99776200-99777800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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