Variant report

Variant	rs7550222
Chromosome Location	chr1:210056950-210056951
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:210051709..210053987-chr1:210055689..210058098,2	MCF-7	breast:
2	chr1:210053168..210055253-chr1:210056848..210058464,2	MCF-7	breast:
3	chr1:210042123..210044687-chr1:210056362..210058775,2	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11806020	1.00[EUR][1000 genomes]
rs17015326	1.00[EUR][1000 genomes]
rs56655983	1.00[EUR][1000 genomes]
rs57139400	1.00[EUR][1000 genomes]
rs60014300	1.00[EUR][1000 genomes]
rs60079073	1.00[EUR][1000 genomes]
rs6540558	1.00[EUR][1000 genomes]
rs6540562	1.00[EUR][1000 genomes]
rs6684236	1.00[EUR][1000 genomes]
rs6692359	1.00[EUR][1000 genomes]
rs74156256	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74156257	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999901	chr1:209600631-210205379	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	nsv1014034	chr1:209759648-210501731	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:210051000-210057400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr1:210053600-210057800	Enhancers	Muscle Satellite Cultured Cells	--
3	chr1:210053600-210058000	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr1:210053600-210058800	Enhancers	Brain Hippocampus Middle	brain
5	chr1:210055600-210060400	Enhancers	HSMMtube	muscle
6	chr1:210055800-210057800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr1:210055800-210058400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr1:210055800-210058400	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr1:210055800-210060000	Weak transcription	Pancreas	Pancrea
10	chr1:210055800-210060200	Enhancers	HSMM	muscle
11	chr1:210056000-210057400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr1:210056200-210057000	Enhancers	NHDF-Ad	bronchial
13	chr1:210056200-210057200	Enhancers	NH-A	brain
14	chr1:210056200-210057200	Enhancers	Osteobl	bone
15	chr1:210056200-210058400	Enhancers	Fetal Brain Female	brain
16	chr1:210056200-210058600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr1:210056200-210060400	Enhancers	NHEK	skin
18	chr1:210056400-210057400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr1:210056400-210057600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr1:210056400-210058000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr1:210056400-210058400	Enhancers	Brain Cingulate Gyrus	brain
22	chr1:210056400-210058600	Enhancers	Placenta Amnion	Placenta Amnion
23	chr1:210056400-210058800	Enhancers	HUVEC	blood vessel
24	chr1:210056400-210059000	Enhancers	NHLF	lung
25	chr1:210056400-210059400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr1:210056400-210059800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr1:210056400-210060400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr1:210056400-210060400	Enhancers	HMEC	breast
29	chr1:210056600-210057000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr1:210056600-210057800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr1:210056600-210057800	Enhancers	Brain Anterior Caudate	brain
32	chr1:210056600-210058200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr1:210056600-210058200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr1:210056600-210058400	Enhancers	Brain Angular Gyrus	brain
35	chr1:210056600-210058800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
36	chr1:210056600-210060000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr1:210056600-210060200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr1:210056800-210057200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr1:210056800-210057200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr1:210056800-210057400	Enhancers	Pancreatic Islets	Pancreatic Islet
41	chr1:210056800-210057600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr1:210056800-210057800	Enhancers	Hela-S3	cervix
43	chr1:210056800-210058600	Enhancers	HUES64 Cell Line	embryonic stem cell
44	chr1:210056800-210059400	Enhancers	iPS-15b Cell Line	embryonic stem cell

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