Variant report

Variant	rs62482947
Chromosome Location	chr7:102054531-102054532
allele	A/G
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:102053201..102055205-chr7:102088034..102089879,2	K562	blood:
2	chr7:102043295..102047994-chr7:102049939..102056237,7	K562	blood:
3	chr7:102048214..102051308-chr7:102051433..102054788,6	K562	blood:
4	chr7:102053638..102056399-chr7:102058693..102060574,2	K562	blood:
5	chr7:102049708..102051237-chr7:102053015..102054788,2	K562	blood:
6	chr7:102040916..102042462-chr7:102053158..102054889,2	K562	blood:
7	chr7:102039767..102042543-chr7:102053786..102056016,2	MCF-7	breast:
8	chr7:102052744..102054709-chr7:102054861..102056550,2	MCF-7	breast:
9	chr7:102035824..102037921-chr7:102053223..102056162,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000128563	Chromatin interaction
ENSG00000221510	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10229440	0.95[ASN][1000 genomes]
rs1134521	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12672177	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17135196	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2950183	0.90[ASN][1000 genomes]
rs3823656	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4584084	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55823933	0.95[ASN][1000 genomes]
rs55893391	0.94[ASN][1000 genomes]
rs55953136	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56411810	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62482951	0.95[ASN][1000 genomes]
rs62482952	0.95[ASN][1000 genomes]
rs62482953	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62483800	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6958346	0.87[ASN][1000 genomes]
rs712844	0.83[ASN][1000 genomes]
rs811680	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1814780	chr7:101912320-102375950	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	esv1819566	chr7:101912320-102375950	Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	esv1822347	chr7:101912320-102375950	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	esv1825708	chr7:101912320-102375950	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
5	esv1842898	chr7:101912320-102375950	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
6	esv1847418	chr7:101912320-102375950	Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
7	nsv427798	chr7:101912320-102375950	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
8	nsv428182	chr7:101912320-102375950	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
9	nsv1016563	chr7:101912320-102695860	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
10	nsv1028438	chr7:101912320-102704135	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
11	nsv1029079	chr7:101939998-102112371	Bivalent/Poised TSS Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	32 gene(s)	inside rSNPs	diseases
12	esv1818954	chr7:101957513-102328097	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
13	esv1828190	chr7:101966669-102439077	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
14	esv1829377	chr7:101970299-102330884	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
15	nsv831083	chr7:101981005-102295869	Active TSS Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
16	esv1806297	chr7:101981544-102330884	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
17	esv1810415	chr7:101993063-102375950	Weak transcription Strong transcription Active TSS Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh 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	46 gene(s)	inside rSNPs	diseases
18	esv1811751	chr7:101993063-102375950	Enhancers Genic enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
19	esv1829118	chr7:101993063-102375950	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
20	esv1833155	chr7:101993063-102375950	Genic enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:102038000-102066800	Weak transcription	Stomach Mucosa	stomach
2	chr7:102038400-102055600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
3	chr7:102038800-102068600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr7:102039000-102055000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr7:102039000-102058000	Strong transcription	Osteobl	bone
6	chr7:102039000-102062400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr7:102039000-102062400	Strong transcription	Stomach Smooth Muscle	stomach
8	chr7:102039200-102057200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr7:102039200-102059200	Strong transcription	Primary monocytes fromperipheralblood	blood
10	chr7:102039200-102059800	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr7:102039200-102062400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
12	chr7:102039200-102062600	Strong transcription	Dnd41	blood
13	chr7:102039200-102068200	Strong transcription	Placenta	Placenta
14	chr7:102039200-102070000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr7:102039400-102060200	Strong transcription	Rectal Mucosa Donor 29	rectum
16	chr7:102039400-102060600	Strong transcription	HUES6 Cell Line	embryonic stem cell
17	chr7:102039400-102061000	Strong transcription	HUES48 Cell Line	embryonic stem cell
18	chr7:102039400-102061600	Strong transcription	Fetal Intestine Large	intestine
19	chr7:102039400-102063000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr7:102039400-102063600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr7:102039600-102060000	Strong transcription	Fetal Lung	lung
22	chr7:102039600-102067800	Strong transcription	Liver	Liver
23	chr7:102039600-102068200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr7:102039800-102065800	Strong transcription	Adipose Nuclei	Adipose
25	chr7:102039800-102068600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr7:102042600-102062400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr7:102043600-102056200	Strong transcription	Fetal Kidney	kidney
28	chr7:102044400-102056200	Strong transcription	K562	blood
29	chr7:102045000-102067800	Strong transcription	HepG2	liver
30	chr7:102048600-102060800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr7:102049000-102056200	Weak transcription	Pancreas	Pancrea
32	chr7:102049200-102055400	Weak transcription	Esophagus	oesophagus
33	chr7:102050200-102055200	Strong transcription	Colon Smooth Muscle	Colon
34	chr7:102050600-102064200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr7:102050800-102062400	Strong transcription	Brain Germinal Matrix	brain
36	chr7:102050800-102062600	Strong transcription	HUES64 Cell Line	embryonic stem cell
37	chr7:102050800-102063000	Strong transcription	Cortex derived primary cultured neurospheres	brain
38	chr7:102050800-102064400	Strong transcription	Fetal Muscle Trunk	muscle
39	chr7:102050800-102065000	Strong transcription	Fetal Stomach	stomach
40	chr7:102050800-102066000	Strong transcription	Fetal Intestine Small	intestine
41	chr7:102050800-102073400	Weak transcription	Psoas Muscle	Psoas
42	chr7:102051000-102055800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr7:102051000-102056800	Strong transcription	Hela-S3	cervix
44	chr7:102051000-102062200	Strong transcription	Lung	lung
45	chr7:102051000-102063200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr7:102051000-102064600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr7:102051000-102065600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr7:102051000-102068400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr7:102051000-102068600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
50	chr7:102051200-102054600	Strong transcription	GM12878-XiMat	blood

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