Variant report

Variant	rs62459619
Chromosome Location	chr7:70598935-70598936
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs4717581	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4719074	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4719075	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4719077	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs5008002	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62458181	1.00[EUR][1000 genomes]
rs62459587	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62459615	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62459616	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62459617	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62459618	0.90[ASN][1000 genomes]
rs62459620	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62459621	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7807036	0.83[AMR][1000 genomes];0.85[EUR][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	nsv519090	chr7:70085934-71071896	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1034662	chr7:70275712-70722953	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1015261	chr7:70404302-71255933	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
4	esv3377653	chr7:70596541-70599389	Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers ZNF genes & repeats	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:70595800-70599000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr7:70595800-70599400	Active TSS	HUES48 Cell Line	embryonic stem cell
3	chr7:70595800-70599600	Active TSS	Brain Inferior Temporal Lobe	brain
4	chr7:70596000-70599000	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
5	chr7:70596000-70599200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr7:70596000-70599200	Active TSS	Left Ventricle	heart
7	chr7:70596000-70599400	Active TSS	Brain Anterior Caudate	brain
8	chr7:70596000-70599600	Active TSS	Brain Angular Gyrus	brain
9	chr7:70596200-70599000	Active TSS	Esophagus	oesophagus
10	chr7:70596200-70599200	Bivalent/Poised TSS	Brain Germinal Matrix	brain
11	chr7:70596800-70599000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
12	chr7:70596800-70599400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
13	chr7:70597000-70599000	Bivalent/Poised TSS	Lung	lung
14	chr7:70597400-70599000	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
15	chr7:70597400-70599000	Bivalent/Poised TSS	Fetal Lung	lung
16	chr7:70597600-70599200	Active TSS	Right Ventricle	heart
17	chr7:70597800-70599400	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
18	chr7:70598200-70599400	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
19	chr7:70598400-70599000	Bivalent Enhancer	Fetal Kidney	kidney
20	chr7:70598600-70599000	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
21	chr7:70598600-70599000	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
22	chr7:70598600-70599000	Flanking Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr7:70598600-70599000	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr7:70598600-70599000	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
25	chr7:70598600-70599000	Active TSS	Brain Hippocampus Middle	brain
26	chr7:70598600-70599000	Flanking Bivalent TSS/Enh	Fetal Brain Male	brain
27	chr7:70598600-70599000	Flanking Active TSS	Ovary	ovary
28	chr7:70598600-70599200	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
29	chr7:70598600-70599200	Flanking Bivalent TSS/Enh	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr7:70598600-70599400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr7:70598600-70611200	Weak transcription	Right Atrium	heart
32	chr7:70598800-70599000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr7:70598800-70599000	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
34	chr7:70598800-70599000	Bivalent/Poised TSS	Fetal Stomach	stomach
35	chr7:70598800-70599000	Flanking Active TSS	Pancreas	Pancrea
36	chr7:70598800-70599000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
37	chr7:70598800-70599200	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
38	chr7:70598800-70599200	Active TSS	Duodenum Smooth Muscle	Duodenum
39	chr7:70598800-70599200	Bivalent/Poised TSS	Fetal Muscle Trunk	muscle
40	chr7:70598800-70599600	Flanking Active TSS	H9 Cell Line	embryonic stem cell
41	chr7:70598800-70599600	Enhancers	Fetal Heart	heart
42	chr7:70598800-70599800	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr7:70598800-70600200	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr7:70598800-70605000	Weak transcription	Aorta	Aorta
45	chr7:70598800-70611200	Weak transcription	Colon Smooth Muscle	Colon

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