Variant report

Variant	rs62475997
Chromosome Location	chr7:111809729-111809730
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:111808781..111810939-chr7:112023038..112025421,2	K562	blood:
2	chr7:111807988..111810235-chr7:111812835..111815049,2	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs62473060	0.86[AMR][1000 genomes]
rs62473127	0.86[AMR][1000 genomes]
rs62473129	0.86[AMR][1000 genomes]
rs62473137	0.86[AMR][1000 genomes]
rs62473139	0.86[AMR][1000 genomes]
rs62476050	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73440635	0.93[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021527	chr7:111194596-111851619	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	nsv539086	chr7:111194596-111851619	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv531435	chr7:111333900-111926292	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv491934	chr7:111333900-111975504	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
5	nsv532335	chr7:111411990-112054905	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	nsv1016663	chr7:111622107-111813223	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:111796000-111813800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr7:111800800-111813000	Weak transcription	Stomach Smooth Muscle	stomach
3	chr7:111802600-111811600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr7:111802600-111825200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr7:111803000-111825400	Weak transcription	NHEK	skin
6	chr7:111803200-111813000	Weak transcription	Fetal Lung	lung
7	chr7:111803200-111813000	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr7:111803400-111813600	Weak transcription	Left Ventricle	heart
9	chr7:111803600-111813000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr7:111803600-111813400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr7:111803600-111820400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr7:111803600-111825400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr7:111803800-111811800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr7:111804200-111812000	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr7:111804200-111813600	Weak transcription	Right Atrium	heart
16	chr7:111804200-111816200	Weak transcription	HepG2	liver
17	chr7:111804200-111816800	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr7:111804800-111817400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr7:111805400-111813000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr7:111805600-111813800	Weak transcription	Ovary	ovary
21	chr7:111807000-111811600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr7:111807200-111811000	Enhancers	Brain Substantia Nigra	brain
23	chr7:111807600-111813000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr7:111807600-111813000	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr7:111808200-111809800	Enhancers	Brain Inferior Temporal Lobe	brain
26	chr7:111808600-111810200	Enhancers	Brain Hippocampus Middle	brain
27	chr7:111808800-111813000	Weak transcription	Brain Angular Gyrus	brain
28	chr7:111808800-111813200	Weak transcription	Right Ventricle	heart
29	chr7:111808800-111822800	Weak transcription	Pancreas	Pancrea
30	chr7:111809000-111813000	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr7:111809200-111809800	Weak transcription	Brain Cingulate Gyrus	brain
32	chr7:111809200-111809800	Weak transcription	Lung	lung
33	chr7:111809200-111812600	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr7:111809400-111809800	Weak transcription	Psoas Muscle	Psoas
35	chr7:111809400-111810000	Enhancers	Brain Anterior Caudate	brain
36	chr7:111809400-111812400	Weak transcription	HUVEC	blood vessel
37	chr7:111809600-111809800	Enhancers	Aorta	Aorta
38	chr7:111809600-111809800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain

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