Variant report

Variant	rs6946590
Chromosome Location	chr7:127618941-127618942
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs1019578	1.00[EUR][1000 genomes]
rs10228031	1.00[EUR][1000 genomes]
rs1025075	1.00[EUR][1000 genomes]
rs10487503	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1073155	0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12536253	0.85[ASN][1000 genomes]
rs1440973	1.00[EUR][1000 genomes]
rs1468702	1.00[EUR][1000 genomes]
rs17133046	1.00[EUR][1000 genomes]
rs17151515	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17151567	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17151575	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17151629	1.00[EUR][1000 genomes]
rs17151639	0.90[ASN][1000 genomes]
rs17151650	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17151837	1.00[EUR][1000 genomes]
rs1833146	1.00[EUR][1000 genomes]
rs1966517	1.00[EUR][1000 genomes]
rs2402873	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs325438	1.00[EUR][1000 genomes]
rs325439	1.00[EUR][1000 genomes]
rs325443	1.00[EUR][1000 genomes]
rs325448	1.00[EUR][1000 genomes]
rs325449	1.00[EUR][1000 genomes]
rs325450	1.00[EUR][1000 genomes]
rs4728078	1.00[EUR][1000 genomes]
rs4728082	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4731379	1.00[EUR][1000 genomes]
rs4731382	1.00[EUR][1000 genomes]
rs4731383	1.00[EUR][1000 genomes]
rs4731384	1.00[EUR][1000 genomes]
rs4731390	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4731391	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs58395975	1.00[EUR][1000 genomes]
rs61743021	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6467146	1.00[EUR][1000 genomes]
rs6467149	1.00[EUR][1000 genomes]
rs6467154	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6950211	1.00[EUR][1000 genomes]
rs6952123	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6952734	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6953530	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6964714	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6972398	0.84[ASN][1000 genomes]
rs6972816	0.96[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6975274	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6976145	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs698409	1.00[EUR][1000 genomes]
rs712720	1.00[EUR][1000 genomes]
rs73721253	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73721258	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73721261	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73721264	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7783560	1.00[EUR][1000 genomes]
rs7791000	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7794303	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7794328	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7804310	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022385	chr7:127246656-127971194	Weak transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv539120	chr7:127246656-127971194	Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv1016143	chr7:127251359-127726762	Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv526535	chr7:127445594-127623840	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1024743	chr7:127498695-127670004	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127583200-127630600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr7:127587400-127635200	Weak transcription	NHDF-Ad	bronchial
3	chr7:127594000-127623400	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr7:127600600-127630600	Weak transcription	Adipose Nuclei	Adipose
5	chr7:127603000-127627000	Weak transcription	Aorta	Aorta
6	chr7:127603200-127619200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr7:127603400-127619000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr7:127607400-127624000	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr7:127607800-127626800	Weak transcription	Ovary	ovary
10	chr7:127609200-127630800	Weak transcription	NH-A	brain
11	chr7:127609400-127623400	Weak transcription	Pancreas	Pancrea
12	chr7:127609400-127635200	Weak transcription	Fetal Kidney	kidney
13	chr7:127613600-127619800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr7:127613800-127623400	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr7:127614000-127631000	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr7:127614400-127630600	Weak transcription	Stomach Smooth Muscle	stomach
17	chr7:127615000-127619000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr7:127615400-127619000	Strong transcription	Liver	Liver
19	chr7:127615600-127619600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr7:127615800-127625000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr7:127616200-127619800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
22	chr7:127616200-127623800	Weak transcription	HSMMtube	muscle
23	chr7:127616200-127624600	Weak transcription	Right Ventricle	heart
24	chr7:127616400-127619600	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
25	chr7:127616400-127619600	Strong transcription	HepG2	liver
26	chr7:127616400-127624800	Weak transcription	Left Ventricle	heart
27	chr7:127616800-127619600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
28	chr7:127616800-127619600	ZNF genes & repeats	GM12878-XiMat	blood
29	chr7:127616800-127620000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr7:127616800-127625000	Weak transcription	Lung	lung
31	chr7:127617000-127619200	Weak transcription	Stomach Mucosa	stomach
32	chr7:127617000-127619600	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr7:127617000-127619600	Strong transcription	Muscle Satellite Cultured Cells	--
34	chr7:127617000-127623200	Weak transcription	Fetal Heart	heart
35	chr7:127617000-127628800	Weak transcription	Spleen	Spleen
36	chr7:127617200-127619200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr7:127617200-127619200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr7:127617200-127619400	Weak transcription	Fetal Stomach	stomach
39	chr7:127617200-127619600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
40	chr7:127617200-127621400	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr7:127617200-127623200	Weak transcription	Gastric	stomach
42	chr7:127617200-127623800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr7:127617200-127625200	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr7:127617200-127625800	Weak transcription	Brain Cingulate Gyrus	brain
45	chr7:127617200-127627000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr7:127617200-127628400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr7:127617200-127630600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr7:127617200-127631000	Weak transcription	Esophagus	oesophagus
49	chr7:127617400-127619600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr7:127617400-127626000	Weak transcription	Brain Hippocampus Middle	brain

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