Variant report

Variant	rs1060513
Chromosome Location	chr7:116547981-116547982
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	7:115890993-115892266..7:116547624-116551247	GM12878	blood:
2	chr7:116546291..116549197-chr7:116550782..116553572,2	K562	blood:
3	chr7:116546585..116548718-chr7:116591893..116593424,2	MCF-7	breast:
4	7:116547624-116551247..7:116754962-116765597	GM12878	blood:

Variant related genes	Relation type
ENSG00000004866	Chromatin interaction
ENSG00000135269	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs1060514	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11981133	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6952406	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6961375	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6967466	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7777997	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7780748	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7786948	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7790214	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7791219	0.88[AFR][1000 genomes]
rs7796146	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831107	chr7:116414734-116649466	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:116503800-116554400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr7:116506000-116554600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr7:116511400-116554600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr7:116515400-116559200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr7:116516800-116551200	Weak transcription	Brain Angular Gyrus	brain
6	chr7:116517200-116554600	Weak transcription	Esophagus	oesophagus
7	chr7:116517600-116556600	Weak transcription	Psoas Muscle	Psoas
8	chr7:116520000-116551200	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr7:116525800-116551200	Weak transcription	Thymus	Thymus
10	chr7:116525800-116554600	Weak transcription	Aorta	Aorta
11	chr7:116525800-116558400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr7:116525800-116559400	Weak transcription	Colonic Mucosa	Colon
13	chr7:116526200-116550000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr7:116526200-116551200	Weak transcription	Small Intestine	intestine
15	chr7:116526600-116553600	Weak transcription	Right Ventricle	heart
16	chr7:116526800-116554600	Weak transcription	Gastric	stomach
17	chr7:116526800-116559400	Weak transcription	Stomach Mucosa	stomach
18	chr7:116527000-116560600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr7:116527200-116549600	Weak transcription	Fetal Heart	heart
20	chr7:116530200-116550200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr7:116531400-116550600	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr7:116531600-116548400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr7:116532000-116551200	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr7:116532000-116559600	Strong transcription	HSMM	muscle
25	chr7:116534400-116551800	Weak transcription	Fetal Stomach	stomach
26	chr7:116535600-116552000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr7:116537600-116551200	Weak transcription	Brain Germinal Matrix	brain
28	chr7:116537800-116551400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr7:116538000-116559600	Strong transcription	Primary T helper cells PMA-I stimulated	--
30	chr7:116538200-116562400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
31	chr7:116538400-116551200	Weak transcription	NHEK	skin
32	chr7:116538600-116554200	Weak transcription	Spleen	Spleen
33	chr7:116538600-116559400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr7:116539200-116548000	Strong transcription	NH-A	brain
35	chr7:116539400-116548600	Strong transcription	Liver	Liver
36	chr7:116539400-116555000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr7:116539600-116548600	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr7:116540200-116548400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr7:116540200-116551200	Weak transcription	Hela-S3	cervix
40	chr7:116540400-116559800	Strong transcription	Fetal Thymus	thymus
41	chr7:116540600-116548400	Strong transcription	Adipose Nuclei	Adipose
42	chr7:116540600-116549000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr7:116540600-116551200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr7:116541000-116549800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr7:116541200-116551000	Weak transcription	Pancreas	Pancrea
46	chr7:116541400-116550000	Weak transcription	Fetal Brain Female	brain
47	chr7:116541400-116550200	Weak transcription	Fetal Kidney	kidney
48	chr7:116541400-116550600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr7:116541400-116551600	Weak transcription	Brain Substantia Nigra	brain
50	chr7:116541600-116549800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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