Variant report

Variant	rs2248059
Chromosome Location	chr10:27800197-27800198
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:27799337..27801640-chr10:27835012..27836512,2	K562	blood:
2	chr10:27799672..27801387-chr10:27805643..27808469,2	MCF-7	breast:
3	chr10:27792936..27797096-chr10:27798053..27803515,8	K562	blood:
4	chr10:27793040..27797824-chr10:27798182..27803783,7	K562	blood:
5	chr10:27798609..27800885-chr10:27819164..27820782,2	K562	blood:

Variant related genes	Relation type
ENSG00000099246	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs16928036	1.00[AMR][1000 genomes]
rs2244232	0.88[AFR][1000 genomes]
rs2477314	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2477342	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2642272	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2763302	1.00[AMR][1000 genomes]
rs2763304	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2763306	1.00[AMR][1000 genomes]
rs2763310	1.00[AMR][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	nsv8614	chr10:27504487-27828406	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv550241	chr10:27569521-28025771	Enhancers ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv1045257	chr10:27572440-27926946	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	nsv1053952	chr10:27659365-27915029	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:27794000-27801200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr10:27794200-27800200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr10:27794200-27803800	Weak transcription	Lung	lung
4	chr10:27794200-27806800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr10:27794200-27817000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr10:27794400-27824000	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr10:27794400-27837400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr10:27794800-27800200	Weak transcription	Fetal Stomach	stomach
9	chr10:27794800-27800800	Weak transcription	Right Ventricle	heart
10	chr10:27794800-27802400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr10:27794800-27802400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr10:27794800-27814200	Weak transcription	Ovary	ovary
13	chr10:27794800-27814600	Weak transcription	HSMMtube	muscle
14	chr10:27794800-27822800	Weak transcription	Colonic Mucosa	Colon
15	chr10:27794800-27823200	Weak transcription	Esophagus	oesophagus
16	chr10:27794800-27823200	Weak transcription	Spleen	Spleen
17	chr10:27795000-27800200	Weak transcription	Fetal Intestine Small	intestine
18	chr10:27795000-27800800	Weak transcription	Primary hematopoietic stem cells	blood
19	chr10:27795000-27802800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr10:27795000-27806000	Weak transcription	Fetal Kidney	kidney
21	chr10:27795000-27813000	Weak transcription	Right Atrium	heart
22	chr10:27795200-27800400	Weak transcription	A549	lung
23	chr10:27795200-27802400	Weak transcription	Brain Cingulate Gyrus	brain
24	chr10:27795200-27813800	Weak transcription	Fetal Brain Male	brain
25	chr10:27795200-27816800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr10:27795400-27802400	Weak transcription	Fetal Brain Female	brain
27	chr10:27795600-27801400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr10:27795600-27801400	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr10:27795600-27802400	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr10:27795600-27802600	Weak transcription	Brain Angular Gyrus	brain
31	chr10:27795600-27814800	Weak transcription	Pancreas	Pancrea
32	chr10:27795600-27816800	Weak transcription	Brain Hippocampus Middle	brain
33	chr10:27795800-27800200	Weak transcription	Fetal Muscle Leg	muscle
34	chr10:27795800-27800600	Weak transcription	Brain Germinal Matrix	brain
35	chr10:27795800-27801600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr10:27795800-27802600	Weak transcription	Brain Substantia Nigra	brain
37	chr10:27795800-27803000	Weak transcription	NHLF	lung
38	chr10:27795800-27803800	Weak transcription	Aorta	Aorta
39	chr10:27795800-27822600	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr10:27795800-27832600	Weak transcription	Small Intestine	intestine
41	chr10:27796000-27814600	Weak transcription	Rectal Smooth Muscle	rectum
42	chr10:27796200-27801200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr10:27796200-27804200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr10:27796400-27800600	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr10:27796400-27800600	Weak transcription	K562	blood
46	chr10:27796400-27801600	Weak transcription	NHDF-Ad	bronchial
47	chr10:27796400-27802400	Weak transcription	HepG2	liver
48	chr10:27796400-27803400	Strong transcription	Primary B cells from peripheral blood	blood
49	chr10:27796400-27805200	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr10:27796600-27800400	Weak transcription	Liver	Liver

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