Variant report

Variant	rs10245775
Chromosome Location	chr7:127932386-127932387
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10230082	0.92[AFR][1000 genomes]
rs10251133	0.89[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs1026189	0.91[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs11972879	0.82[EUR][1000 genomes]
rs1466145	0.91[EUR][1000 genomes]
rs16871983	0.91[EUR][1000 genomes]
rs17151951	0.91[EUR][1000 genomes]
rs17151956	0.82[EUR][1000 genomes]
rs17151961	0.91[EUR][1000 genomes]
rs17151967	0.91[EUR][1000 genomes]
rs2122628	0.91[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs2402886	0.91[EUR][1000 genomes]
rs4731439	0.88[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs57006226	0.82[EUR][1000 genomes]
rs57272364	0.82[EUR][1000 genomes]
rs57403126	0.91[EUR][1000 genomes]
rs6943621	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6952457	0.91[EUR][1000 genomes]
rs7778230	0.91[EUR][1000 genomes]
rs7778254	0.82[EUR][1000 genomes]
rs921399	0.91[EUR][1000 genomes]
rs9649514	0.86[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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	nsv437031	chr7:127923778-127939461	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv1016669	chr7:127927963-127948122	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1017782	chr7:127928249-127946901	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv1019036	chr7:127928441-127948122	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv1018630	chr7:127928441-127948604	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	esv2764054	chr7:127928453-127948604	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv525319	chr7:127929271-127946173	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	esv3441913	chr7:127931366-127933564	ZNF genes & repeats Weak transcription Strong transcription	lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127917000-127945600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr7:127917200-127943200	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr7:127920200-127945200	Weak transcription	Right Ventricle	heart
4	chr7:127920600-127938800	Weak transcription	Right Atrium	heart
5	chr7:127920600-127941000	Weak transcription	Primary T cells from cord blood	blood
6	chr7:127921400-127939000	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr7:127921800-127944400	Weak transcription	Brain Cingulate Gyrus	brain
8	chr7:127922000-127940600	Weak transcription	Brain Anterior Caudate	brain
9	chr7:127922000-127942000	Weak transcription	Brain Angular Gyrus	brain
10	chr7:127922000-127944400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr7:127922200-127932600	Weak transcription	Fetal Intestine Small	intestine
12	chr7:127922200-127942000	Weak transcription	Left Ventricle	heart
13	chr7:127922200-127942200	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr7:127922200-127943000	Weak transcription	Dnd41	blood
15	chr7:127922200-127943200	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr7:127922400-127942000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr7:127923800-127943200	Weak transcription	Pancreas	Pancrea
18	chr7:127924000-127940000	Weak transcription	Fetal Muscle Trunk	muscle
19	chr7:127924200-127943800	Weak transcription	Primary hematopoietic stem cells	blood
20	chr7:127924400-127942200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr7:127924400-127942200	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr7:127924600-127939000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr7:127924600-127940600	Weak transcription	A549	lung
24	chr7:127924600-127950000	Weak transcription	Psoas Muscle	Psoas
25	chr7:127926200-127940200	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr7:127926400-127943200	Weak transcription	HSMM	muscle
27	chr7:127926600-127940600	Weak transcription	Liver	Liver
28	chr7:127926600-127941400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr7:127926800-127940400	Weak transcription	Stomach Smooth Muscle	stomach
30	chr7:127926800-127941400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr7:127927000-127932600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr7:127927000-127940400	Weak transcription	Aorta	Aorta
33	chr7:127927000-127940800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr7:127927000-127943200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr7:127927000-127944400	Weak transcription	Ovary	ovary
36	chr7:127928800-127944400	Weak transcription	Rectal Smooth Muscle	rectum
37	chr7:127929000-127939200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr7:127929000-127941600	Weak transcription	HSMMtube	muscle
39	chr7:127930800-127949200	Weak transcription	Fetal Kidney	kidney
40	chr7:127931200-127941600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr7:127931400-127938800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr7:127931400-127939000	Weak transcription	Fetal Lung	lung
43	chr7:127931800-127943200	Weak transcription	Primary T cells fromperipheralblood	blood
44	chr7:127932000-127932800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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