Variant report

Variant	rs7210041
Chromosome Location	chr17:46113822-46113823
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr17:46113649-46115069	SK-N-SH	brain:	n/a	n/a

Variant related genes	Relation type
COPZ2	TF binding region

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10491182	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs10491183	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs1051001	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11079805	0.98[EUR][1000 genomes]
rs11650043	1.00[CEU][hapmap]
rs11650182	0.83[AMR][1000 genomes]
rs11651275	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs11656818	0.98[EUR][1000 genomes]
rs12452399	0.98[EUR][1000 genomes]
rs1377202	0.81[YRI][hapmap]
rs16969990	1.00[CEU][hapmap]
rs17617360	1.00[CEU][hapmap]
rs17618704	1.00[CEU][hapmap];0.83[AMR][1000 genomes]
rs17679445	1.00[CEU][hapmap]
rs28405789	0.98[EUR][1000 genomes]
rs35091825	0.98[EUR][1000 genomes]
rs41429650	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs7209072	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs8078142	0.84[AMR][1000 genomes]
rs9890096	0.86[EUR][1000 genomes]
rs9895554	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs9900074	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs9903963	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs9914123	0.98[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	nsv469808	chr17:46049868-46228673	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
2	nsv482897	chr17:46049868-46228673	Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:46104400-46114000	Weak transcription	Liver	Liver
2	chr17:46104400-46114000	Weak transcription	Right Ventricle	heart
3	chr17:46104400-46114200	Weak transcription	Brain Substantia Nigra	brain
4	chr17:46104600-46114000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr17:46104600-46114000	Weak transcription	Brain Hippocampus Middle	brain
6	chr17:46104800-46114000	Weak transcription	HSMMtube	muscle
7	chr17:46105400-46114000	Weak transcription	K562	blood
8	chr17:46105600-46114000	Weak transcription	Pancreas	Pancrea
9	chr17:46108400-46114000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr17:46108400-46114000	Weak transcription	Adipose Nuclei	Adipose
11	chr17:46108400-46114000	Weak transcription	NH-A	brain
12	chr17:46108400-46114200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr17:46108400-46114200	Weak transcription	Brain Anterior Caudate	brain
14	chr17:46108400-46114200	Weak transcription	Brain Cingulate Gyrus	brain
15	chr17:46108400-46114200	Weak transcription	Esophagus	oesophagus
16	chr17:46110400-46114000	Weak transcription	Ovary	ovary
17	chr17:46110400-46114000	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr17:46111200-46114000	Weak transcription	Fetal Stomach	stomach
19	chr17:46111200-46114200	Weak transcription	Aorta	Aorta
20	chr17:46111400-46114000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr17:46111400-46114000	Weak transcription	Placenta	Placenta
22	chr17:46111400-46114200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr17:46111400-46114200	Weak transcription	Spleen	Spleen
24	chr17:46111800-46114000	Weak transcription	Fetal Muscle Trunk	muscle
25	chr17:46113200-46114000	Weak transcription	Left Ventricle	heart
26	chr17:46113800-46114000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr17:46113800-46114000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr17:46113800-46114000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr17:46113800-46114000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr17:46113800-46114000	Bivalent Enhancer	Fetal Muscle Leg	muscle
31	chr17:46113800-46114000	Genic enhancers	Skeletal Muscle Male	skeletal muscle
32	chr17:46113800-46114000	Enhancers	Skeletal Muscle Female	skeletal muscle
33	chr17:46113800-46114000	Enhancers	Stomach Smooth Muscle	stomach
34	chr17:46113800-46114000	Bivalent Enhancer	HepG2	liver
35	chr17:46113800-46114000	Enhancers	NHLF	lung
36	chr17:46113800-46114000	Transcr. at gene 5' and 3'	Osteobl	bone
37	chr17:46113800-46114200	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr17:46113800-46114200	Enhancers	Colon Smooth Muscle	Colon
39	chr17:46113800-46114200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
40	chr17:46113800-46114200	Enhancers	Right Atrium	heart
41	chr17:46113800-46114200	Enhancers	HSMM	muscle
42	chr17:46113800-46114400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr17:46113800-46114400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr17:46113800-46114400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr17:46113800-46114400	Bivalent Enhancer	Fetal Intestine Small	intestine
46	chr17:46113800-46114400	Flanking Active TSS	NHDF-Ad	bronchial
47	chr17:46113800-46114600	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
48	chr17:46113800-46114600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr17:46113800-46114600	Flanking Active TSS	Muscle Satellite Cultured Cells	--

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