Variant report

Variant	rs62483748
Chromosome Location	chr7:100761516-100761517
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:100751112..100754051-chr7:100759784..100762309,3	MCF-7	breast:
2	chr7:100754972..100758673-chr7:100760651..100765191,4	K562	blood:
3	chr7:100755889..100757654-chr7:100761288..100763415,3	K562	blood:
4	chr7:100759553..100761801-chr7:100764388..100767111,2	K562	blood:
5	chr7:100752460..100757093-chr7:100759104..100763544,6	MCF-7	breast:
6	chr7:100751228..100753347-chr7:100760665..100763411,4	K562	blood:
7	chr7:100736428..100739079-chr7:100758952..100761721,2	MCF-7	breast:
8	chr7:100758907..100762284-chr7:100803810..100808280,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000260336	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs12530725	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12530730	0.87[EUR][1000 genomes]
rs12535610	0.95[AFR][1000 genomes]
rs12536798	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12538402	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs34144144	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34772825	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35532237	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35664038	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35799997	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs36093166	0.95[AFR][1000 genomes]
rs3890122	0.82[ASN][1000 genomes]
rs4727479	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4729659	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4729661	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4729662	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4729663	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4729664	0.86[EUR][1000 genomes]
rs6945281	0.83[AFR][1000 genomes]
rs6950982	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6951404	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6955537	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6956010	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs757722	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7783913	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7784462	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7784489	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7784514	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7790022	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1031942	chr7:100606734-100788660	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	esv1833777	chr7:100632790-100800131	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv1033081	chr7:100669629-100771824	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv831075	chr7:100692297-100917018	Bivalent/Poised TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
5	nsv933653	chr7:100701931-101515782	Active TSS ZNF genes & repeats Bivalent Enhancer Enhancers Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
6	nsv1030604	chr7:100717732-101223465	Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
7	nsv464649	chr7:100739682-100810983	Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
8	nsv607972	chr7:100739682-100810983	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
9	esv2422376	chr7:100743485-101016471	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
10	nsv1018841	chr7:100760410-100868299	Flanking Active TSS Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100752400-100764600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr7:100752600-100765400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr7:100755000-100764800	Weak transcription	Psoas Muscle	Psoas
4	chr7:100755600-100763200	Weak transcription	Lung	lung
5	chr7:100756000-100763200	Weak transcription	Spleen	Spleen
6	chr7:100757000-100765400	Enhancers	HUVEC	blood vessel
7	chr7:100757600-100770400	Enhancers	Placenta	Placenta
8	chr7:100759600-100765400	Enhancers	NHDF-Ad	bronchial
9	chr7:100759800-100764000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr7:100759800-100765400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr7:100759800-100765400	Enhancers	Osteobl	bone
12	chr7:100760200-100762000	Enhancers	Right Atrium	heart
13	chr7:100760200-100762000	Enhancers	HSMMtube	muscle
14	chr7:100760200-100762200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr7:100760200-100762600	Enhancers	Hela-S3	cervix
16	chr7:100760200-100763400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr7:100760200-100763800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr7:100760200-100765400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr7:100760200-100765400	Enhancers	NH-A	brain
20	chr7:100760400-100761800	Enhancers	Fetal Heart	heart
21	chr7:100760400-100762000	Enhancers	Placenta Amnion	Placenta Amnion
22	chr7:100760400-100762000	Enhancers	HMEC	breast
23	chr7:100760400-100762400	Enhancers	Right Ventricle	heart
24	chr7:100760400-100763000	Enhancers	NHEK	skin
25	chr7:100760400-100763600	Enhancers	Fetal Stomach	stomach
26	chr7:100760400-100763600	Enhancers	Stomach Smooth Muscle	stomach
27	chr7:100760400-100765200	Enhancers	Ovary	ovary
28	chr7:100760400-100765400	Enhancers	Fetal Muscle Leg	muscle
29	chr7:100760400-100765400	Enhancers	NHLF	lung
30	chr7:100760800-100761800	Enhancers	Skeletal Muscle Female	skeletal muscle
31	chr7:100760800-100762200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr7:100760800-100763000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr7:100760800-100763000	Weak transcription	HSMM	muscle
34	chr7:100760800-100765200	Enhancers	A549	lung
35	chr7:100760800-100765400	Enhancers	Muscle Satellite Cultured Cells	--
36	chr7:100761000-100761600	Weak transcription	Fetal Lung	lung
37	chr7:100761000-100762400	Enhancers	Fetal Muscle Trunk	muscle
38	chr7:100761000-100762400	Enhancers	HepG2	liver
39	chr7:100761000-100763000	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr7:100761000-100763000	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr7:100761000-100763000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr7:100761000-100763200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr7:100761000-100763200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr7:100761000-100764600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr7:100761000-100764600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr7:100761000-100764800	Weak transcription	Stomach Mucosa	stomach
47	chr7:100761000-100765200	Weak transcription	K562	blood
48	chr7:100761200-100761600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr7:100761200-100761800	Weak transcription	Left Ventricle	heart
50	chr7:100761200-100763000	Weak transcription	Cortex derived primary cultured neurospheres	brain

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