Variant report

Variant	rs25943
Chromosome Location	chr5:14648689-14648690
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:14398708..14399914-chr5:14648355..14649288,5	MCF-7	breast:
2	chr5:13976771..13977506-chr5:14648421..14648943,2	MCF-7	breast:
3	chr5:14366799..14367387-chr5:14648407..14648919,2	K562	blood:
4	chr5:14352294..14352920-chr5:14648683..14649276,2	MCF-7	breast:
5	chr5:14108776..14109307-chr5:14648451..14649059,2	K562	blood:
6	chr5:14364046..14364977-chr5:14648428..14649312,3	K562	blood:
7	chr5:13987663..13988894-chr5:14648405..14649724,6	K562	blood:
8	chr5:14405228..14405866-chr5:14648409..14649049,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000038382	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs13159680	1.00[ASN][1000 genomes]
rs149125	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs149497	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs149617	0.90[YRI][hapmap]
rs152719	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs152788	0.85[MEX][hapmap];0.82[YRI][hapmap]
rs152970	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs152971	1.00[ASN][1000 genomes]
rs152972	1.00[ASN][1000 genomes]
rs152973	0.94[ASN][1000 genomes]
rs153831	1.00[ASN][1000 genomes]
rs153832	1.00[ASN][1000 genomes]
rs153833	1.00[ASN][1000 genomes]
rs153835	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs153837	1.00[ASN][1000 genomes]
rs153934	1.00[ASN][1000 genomes]
rs154667	0.94[ASN][1000 genomes]
rs17249895	0.94[ASN][1000 genomes]
rs2455240	1.00[ASN][1000 genomes]
rs250878	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs258374	0.82[YRI][hapmap]
rs25941	1.00[CHB][hapmap];0.94[ASN][1000 genomes]
rs25942	0.92[CEU][hapmap];1.00[CHB][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs26307	0.90[YRI][hapmap]
rs28107	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs31922	0.86[YRI][hapmap];0.83[AMR][1000 genomes]
rs31925	0.85[MEX][hapmap];0.82[YRI][hapmap];0.83[AMR][1000 genomes]
rs31968	0.85[MEX][hapmap]
rs31993	0.88[ASN][1000 genomes]
rs31994	1.00[CHB][hapmap];0.88[ASN][1000 genomes]
rs31995	1.00[CHB][hapmap];0.88[ASN][1000 genomes]
rs34087737	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34617159	1.00[ASN][1000 genomes]
rs39609	1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[ASN][1000 genomes]
rs455943	1.00[ASN][1000 genomes]
rs457377	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs461056	0.84[ASN][1000 genomes]
rs4702043	0.84[ASW][hapmap];0.93[MEX][hapmap];0.82[MKK][hapmap];0.90[YRI][hapmap];0.86[AMR][1000 genomes]
rs620434	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6872954	0.90[YRI][hapmap];0.86[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026914	chr5:14237782-14751588	Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv1018187	chr5:14385164-15127103	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	nsv830211	chr5:14474675-14675776	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv1032951	chr5:14529579-14667342	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	esv3450688	chr5:14647077-14649300	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	esv3404560	chr5:14647552-14648800	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs25943	FAM105B	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14647600-14649200	Enhancers	NHLF	lung
2	chr5:14648400-14648800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
3	chr5:14648400-14648800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr5:14648400-14648800	Enhancers	HUVEC	blood vessel
5	chr5:14648600-14648800	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr5:14648600-14648800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr5:14648600-14648800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr5:14648600-14648800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr5:14648600-14648800	Enhancers	Primary T cells from cord blood	blood
10	chr5:14648600-14648800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr5:14648600-14648800	Enhancers	Primary T helper cells fromperipheralblood	blood
12	chr5:14648600-14648800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
13	chr5:14648600-14648800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr5:14648600-14648800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
15	chr5:14648600-14648800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr5:14648600-14648800	Enhancers	Adipose Nuclei	Adipose
17	chr5:14648600-14648800	Enhancers	Brain Anterior Caudate	brain
18	chr5:14648600-14648800	Enhancers	Brain Cingulate Gyrus	brain
19	chr5:14648600-14648800	Enhancers	Brain Hippocampus Middle	brain
20	chr5:14648600-14648800	Enhancers	Brain Substantia Nigra	brain
21	chr5:14648600-14648800	Enhancers	Colon Smooth Muscle	Colon
22	chr5:14648600-14648800	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr5:14648600-14648800	Flanking Active TSS	Hela-S3	cervix
24	chr5:14648600-14649000	Enhancers	Primary T helper cells PMA-I stimulated	--

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