Variant report

Variant	rs7213122
Chromosome Location	chr17:63097933-63097934
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:63051381..63054935-chr17:63092846..63100708,11	MCF-7	breast:
2	chr17:63097236..63098868-chr17:63102813..63104467,2	MCF-7	breast:
3	chr17:62969521..62973434-chr17:63095329..63098484,3	MCF-7	breast:
4	chr17:63051785..63054961-chr17:63094963..63102322,8	MCF-7	breast:
5	chr17:63097331..63099925-chr17:63102764..63104387,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000120063	Chromatin interaction
ENSG00000214174	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11079555	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11079556	0.95[ASN][1000 genomes]
rs4790961	0.95[ASN][1000 genomes]
rs60529547	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9892587	0.89[ASN][1000 genomes]
rs9903197	0.95[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	nsv1066765	chr17:62649313-63124303	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
2	nsv530764	chr17:62939944-63278472	Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Strong transcription Bivalent Enhancer Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
3	nsv575872	chr17:63084995-63111452	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv112229	chr17:63095123-63104894	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:63097000-63102400	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr17:63097200-63101000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr17:63097400-63098400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr17:63097400-63098400	Weak transcription	Primary hematopoietic stem cells	blood
5	chr17:63097400-63101800	Weak transcription	Brain Germinal Matrix	brain
6	chr17:63097400-63102000	Weak transcription	Fetal Brain Male	brain
7	chr17:63097400-63102200	Weak transcription	NHLF	lung
8	chr17:63097400-63102400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr17:63097400-63102400	Weak transcription	Placenta	Placenta
10	chr17:63097400-63102600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr17:63097400-63112000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr17:63097600-63098000	Enhancers	Lung	lung
13	chr17:63097600-63098400	Genic enhancers	Fetal Stomach	stomach
14	chr17:63097600-63099200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr17:63097600-63099200	Weak transcription	Hela-S3	cervix
16	chr17:63097600-63099200	Weak transcription	HMEC	breast
17	chr17:63097600-63100400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr17:63097600-63101800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr17:63097600-63102000	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr17:63097600-63102200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr17:63097600-63102200	Weak transcription	Brain Angular Gyrus	brain
22	chr17:63097600-63102200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr17:63097600-63102200	Weak transcription	Fetal Heart	heart
24	chr17:63097600-63102400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr17:63097600-63102400	Weak transcription	Fetal Kidney	kidney
26	chr17:63097600-63102400	Weak transcription	Right Atrium	heart
27	chr17:63097600-63102600	Weak transcription	Gastric	stomach
28	chr17:63097600-63102600	Weak transcription	Stomach Mucosa	stomach
29	chr17:63097600-63111800	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr17:63097800-63098000	Enhancers	Pancreas	Pancrea
31	chr17:63097800-63098000	Active TSS	Stomach Smooth Muscle	stomach
32	chr17:63097800-63098400	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr17:63097800-63098600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr17:63097800-63099200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr17:63097800-63099200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr17:63097800-63099200	Weak transcription	GM12878-XiMat	blood
37	chr17:63097800-63099200	Weak transcription	NHEK	skin
38	chr17:63097800-63099400	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr17:63097800-63099400	Weak transcription	Fetal Muscle Trunk	muscle
40	chr17:63097800-63100400	Weak transcription	Colon Smooth Muscle	Colon
41	chr17:63097800-63100400	Weak transcription	Fetal Lung	lung
42	chr17:63097800-63100400	Weak transcription	Spleen	Spleen
43	chr17:63097800-63100600	Weak transcription	Brain Substantia Nigra	brain
44	chr17:63097800-63100600	Weak transcription	Esophagus	oesophagus
45	chr17:63097800-63100600	Weak transcription	Ovary	ovary
46	chr17:63097800-63100600	Weak transcription	Rectal Smooth Muscle	rectum
47	chr17:63097800-63100600	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr17:63097800-63100600	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr17:63097800-63101000	Weak transcription	Brain Cingulate Gyrus	brain
50	chr17:63097800-63101600	Weak transcription	Brain Anterior Caudate	brain

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