Variant report

Variant	rs62453200
Chromosome Location	chr7:4757184-4757185
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:4754449..4757708-chr7:4778615..4782278,5	K562	blood:
2	chr7:4756833..4759526-chr7:4763472..4765275,2	MCF-7	breast:
3	chr7:4752847..4756783-chr7:4756924..4763457,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164916	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs13228233	0.85[ASN][1000 genomes]
rs13231213	0.91[ASN][1000 genomes]
rs35260343	0.94[ASN][1000 genomes]
rs4132809	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4523152	0.89[ASN][1000 genomes]
rs4540325	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs55801721	0.91[ASN][1000 genomes]
rs6463011	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6959744	0.91[ASN][1000 genomes]
rs6968957	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7455271	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529538	chr7:4509189-5151503	Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
2	nsv530968	chr7:4572250-5418004	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
3	nsv508442	chr7:4623264-4769628	Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
4	nsv1031697	chr7:4677463-5241790	Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
5	nsv538704	chr7:4677463-5241790	Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
6	nsv887377	chr7:4730535-4862259	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
7	nsv887378	chr7:4730535-4929721	Weak transcription Flanking Active TSS Strong transcription Genic enhancers Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
8	nsv887379	chr7:4749527-4828593	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:4730800-4761600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr7:4740600-4757400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr7:4743800-4763600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr7:4747400-4764600	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr7:4748000-4757600	Weak transcription	Fetal Brain Male	brain
6	chr7:4749000-4763600	Weak transcription	HUVEC	blood vessel
7	chr7:4749800-4757200	Weak transcription	Hela-S3	cervix
8	chr7:4751600-4757400	Enhancers	Lung	lung
9	chr7:4751600-4761800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr7:4751800-4757200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr7:4751800-4757800	Weak transcription	Fetal Brain Female	brain
12	chr7:4752800-4763800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr7:4752800-4764200	Weak transcription	Colonic Mucosa	Colon
14	chr7:4752800-4764400	Weak transcription	Small Intestine	intestine
15	chr7:4753000-4763800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr7:4753200-4762000	Weak transcription	A549	lung
17	chr7:4753400-4757800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr7:4753400-4759600	Weak transcription	Primary B cells from peripheral blood	blood
19	chr7:4753400-4761400	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr7:4753400-4761800	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr7:4753400-4774800	Weak transcription	K562	blood
22	chr7:4753800-4757400	Enhancers	Left Ventricle	heart
23	chr7:4753800-4757600	Weak transcription	GM12878-XiMat	blood
24	chr7:4753800-4764000	Strong transcription	Fetal Intestine Small	intestine
25	chr7:4754000-4758200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr7:4754000-4758200	Enhancers	Fetal Heart	heart
27	chr7:4754200-4763800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr7:4754400-4757400	Enhancers	Brain Angular Gyrus	brain
29	chr7:4754400-4757600	Enhancers	Placenta	Placenta
30	chr7:4754400-4758600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr7:4754400-4763600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr7:4754800-4757200	Enhancers	Primary T cells fromperipheralblood	blood
33	chr7:4754800-4757400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
34	chr7:4755000-4757600	Weak transcription	Osteobl	bone
35	chr7:4755000-4758400	Strong transcription	Fetal Thymus	thymus
36	chr7:4755200-4757400	Enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr7:4755200-4757400	Enhancers	Brain Inferior Temporal Lobe	brain
38	chr7:4755200-4757800	Weak transcription	Aorta	Aorta
39	chr7:4755200-4758200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
40	chr7:4755200-4761600	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr7:4755200-4764000	Weak transcription	Brain Germinal Matrix	brain
42	chr7:4755200-4764200	Weak transcription	HSMM	muscle
43	chr7:4755400-4757800	Weak transcription	Fetal Muscle Trunk	muscle
44	chr7:4755400-4764200	Weak transcription	NHEK	skin
45	chr7:4755600-4757200	Enhancers	Primary monocytes fromperipheralblood	blood
46	chr7:4755600-4757200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr7:4755600-4757200	Enhancers	Skeletal Muscle Female	skeletal muscle
48	chr7:4755600-4757400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr7:4755600-4757600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr7:4755600-4757600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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