Variant report

Variant	rs62451116
Chromosome Location	chr7:27938980-27938981
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:27700336..27702766-chr7:27937409..27939057,2	K562	blood:
2	chr7:27936636..27940623-chr7:27942043..27944252,3	MCF-7	breast:
3	chr7:27928475..27932092-chr7:27934786..27940167,5	K562	blood:
4	chr7:27928475..27930209-chr7:27937441..27940167,2	K562	blood:

Variant related genes	Relation type
ENSG00000106049	Chromatin interaction

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

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

rs_ID	r²[population]
rs1055445	0.96[ASN][1000 genomes]
rs12535525	0.96[ASN][1000 genomes]
rs12666442	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12666447	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12669526	0.82[ASN][1000 genomes]
rs17621310	0.96[ASN][1000 genomes]
rs189	0.83[ASN][1000 genomes]
rs2040668	0.83[EUR][1000 genomes]
rs220	0.97[ASN][1000 genomes]
rs62451112	0.88[EUR][1000 genomes]
rs62451117	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72598551	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72598552	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9791862	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949025	chr7:27578167-28075172	Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv1028469	chr7:27767795-27939667	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers 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 target site	20 gene(s)	inside rSNPs	diseases
3	esv2758109	chr7:27793616-27972869	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	esv2759520	chr7:27793616-27972869	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv1030685	chr7:27844038-28177301	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:27915400-27939400	Weak transcription	NHDF-Ad	bronchial
2	chr7:27923800-27941000	Weak transcription	Fetal Brain Female	brain
3	chr7:27926600-27956000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr7:27928000-27939800	Weak transcription	Osteobl	bone
5	chr7:27928400-27940600	Weak transcription	NHLF	lung
6	chr7:27928400-27940800	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr7:27930000-27939600	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr7:27930000-27949800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr7:27930800-27939600	Weak transcription	GM12878-XiMat	blood
10	chr7:27931200-27939600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr7:27931600-27939400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr7:27931800-27940800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr7:27931800-27941000	Weak transcription	Fetal Muscle Trunk	muscle
14	chr7:27932000-27941000	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr7:27932800-27941000	Weak transcription	Thymus	Thymus
16	chr7:27934000-27939600	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr7:27934000-27940600	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr7:27934200-27939400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr7:27934200-27940000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr7:27934200-27940200	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr7:27934400-27939400	Weak transcription	Adipose Nuclei	Adipose
22	chr7:27934400-27940800	Weak transcription	Aorta	Aorta
23	chr7:27934400-27940800	Weak transcription	Fetal Muscle Leg	muscle
24	chr7:27934400-27940800	Weak transcription	Fetal Stomach	stomach
25	chr7:27934400-27940800	Weak transcription	Stomach Smooth Muscle	stomach
26	chr7:27934600-27941000	Weak transcription	Primary neutrophils fromperipheralblood	blood
27	chr7:27934600-27941000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr7:27935200-27939800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr7:27935400-27939000	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr7:27935600-27943200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr7:27935800-27940400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr7:27935800-27940800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr7:27936000-27939600	Enhancers	Stomach Mucosa	stomach
34	chr7:27936600-27939200	Enhancers	Left Ventricle	heart
35	chr7:27936600-27940000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
36	chr7:27937000-27939400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
37	chr7:27937200-27939600	Enhancers	Sigmoid Colon	Sigmoid Colon
38	chr7:27937200-27940800	Weak transcription	Fetal Kidney	kidney
39	chr7:27937200-27940800	Weak transcription	HSMMtube	muscle
40	chr7:27937400-27939400	Weak transcription	Small Intestine	intestine
41	chr7:27937400-27939600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr7:27937400-27940200	Weak transcription	HUVEC	blood vessel
43	chr7:27937400-27940800	Weak transcription	Fetal Lung	lung
44	chr7:27937400-27940800	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr7:27937600-27939400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr7:27937600-27940000	Weak transcription	Duodenum Mucosa	Duodenum
47	chr7:27937600-27940200	Weak transcription	Fetal Intestine Small	intestine
48	chr7:27937600-27940600	Weak transcription	Right Atrium	heart
49	chr7:27937600-27940800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr7:27937600-27941000	Weak transcription	Colonic Mucosa	Colon

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