Variant report

Variant	rs6959719
Chromosome Location	chr7:16104086-16104087
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10227232	0.82[TSI][hapmap]
rs10277151	0.91[EUR][1000 genomes]
rs10950600	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10950601	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11762563	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11766276	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12533693	0.85[ASN][1000 genomes]
rs12537658	0.82[EUR][1000 genomes]
rs12539945	0.82[EUR][1000 genomes]
rs12667418	0.82[EUR][1000 genomes]
rs13221870	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13231996	0.84[EUR][1000 genomes]
rs1405591	0.84[ASN][1000 genomes]
rs17284967	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1881242	0.89[EUR][1000 genomes]
rs66933521	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016642	chr7:15884061-16799788	Genic enhancers Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv949309	chr7:15986709-16236162	ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv517991	chr7:16042596-16104327	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv949555	chr7:16078412-16279290	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6959719	DGKB	cis	parietal	SCAN

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:16096000-16106600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:16099200-16106600	Enhancers	Fetal Lung	lung
3	chr7:16100000-16104200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr7:16101000-16106200	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr7:16102000-16113200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr7:16102200-16104200	Flanking Active TSS	NHDF-Ad	bronchial
7	chr7:16102200-16107000	Weak transcription	Colon Smooth Muscle	Colon
8	chr7:16102400-16106000	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr7:16102800-16106200	Weak transcription	Liver	Liver
10	chr7:16103000-16104200	Flanking Active TSS	Adipose Nuclei	Adipose
11	chr7:16103400-16104200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr7:16103400-16104200	Enhancers	HUVEC	blood vessel
13	chr7:16103400-16106000	Weak transcription	Primary T cells from cord blood	blood
14	chr7:16103600-16104200	Enhancers	Spleen	Spleen
15	chr7:16103600-16106000	Weak transcription	Stomach Smooth Muscle	stomach
16	chr7:16103600-16114800	Weak transcription	Fetal Heart	heart
17	chr7:16103800-16105200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr7:16103800-16105800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr7:16103800-16105800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr7:16103800-16105800	Weak transcription	Fetal Stomach	stomach
21	chr7:16103800-16106200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr7:16103800-16106200	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr7:16103800-16106200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr7:16103800-16106400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr7:16103800-16106600	Weak transcription	Fetal Kidney	kidney
26	chr7:16103800-16106800	Weak transcription	Primary hematopoietic stem cells	blood
27	chr7:16103800-16106800	Weak transcription	Ovary	ovary
28	chr7:16104000-16104200	Enhancers	Fetal Muscle Trunk	muscle
29	chr7:16104000-16104200	Flanking Active TSS	Fetal Muscle Leg	muscle
30	chr7:16104000-16104200	Flanking Active TSS	Left Ventricle	heart
31	chr7:16104000-16104200	Flanking Active TSS	Psoas Muscle	Psoas
32	chr7:16104000-16104200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
33	chr7:16104000-16104200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
34	chr7:16104000-16104400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr7:16104000-16106000	Weak transcription	Osteobl	bone
36	chr7:16104000-16106200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr7:16104000-16106200	Weak transcription	Right Atrium	heart

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