Variant report

Variant	rs12415709
Chromosome Location	chr10:25246008-25246009
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr10:25245648-25246261	K562	blood:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:25245687..25248875-chr10:25261943..25265245,3	MCF-7	breast:
2	chr10:25245793..25250014-chr10:25304011..25307329,4	MCF-7	breast:
3	chr10:25245492..25247572-chr10:25252879..25256306,3	K562	blood:
4	chr10:25244301..25246252-chr10:25263526..25265858,2	K562	blood:
5	chr10:25011700..25014356-chr10:25245305..25247951,2	K562	blood:
6	chr10:25245492..25247955-chr10:25250126..25255906,6	K562	blood:
7	chr10:25242028..25244551-chr10:25245660..25248271,3	MCF-7	breast:

No data

Variant related genes	Relation type
PRTFDC1	TF binding region
ENSG00000273107	Chromatin interaction
ENSG00000151023	Chromatin interaction
ENSG00000107863	Chromatin interaction
ENSG00000185875	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12414402	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs12415062	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16925176	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs60980778	1.00[AFR][1000 genomes]
rs6482464	1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053278	chr10:25140776-25269093	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:25242200-25246400	Weak transcription	HSMM	muscle
2	chr10:25242200-25247800	Weak transcription	Aorta	Aorta
3	chr10:25242200-25247800	Weak transcription	Left Ventricle	heart
4	chr10:25242200-25248000	Weak transcription	Psoas Muscle	Psoas
5	chr10:25242400-25246200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr10:25242400-25246600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr10:25242400-25246800	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr10:25242400-25247400	Weak transcription	Ovary	ovary
9	chr10:25242400-25251400	Weak transcription	Liver	Liver
10	chr10:25242400-25252800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr10:25242600-25246800	Weak transcription	HUVEC	blood vessel
12	chr10:25242600-25247400	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr10:25242600-25247600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr10:25242600-25249000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr10:25242800-25246600	Weak transcription	NHEK	skin
16	chr10:25242800-25247200	Weak transcription	Fetal Kidney	kidney
17	chr10:25242800-25247400	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr10:25242800-25247600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr10:25242800-25247800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr10:25242800-25247800	Weak transcription	Right Atrium	heart
21	chr10:25242800-25251400	Weak transcription	Fetal Intestine Large	intestine
22	chr10:25242800-25251600	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr10:25243000-25246400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr10:25243000-25246400	Weak transcription	Fetal Muscle Trunk	muscle
25	chr10:25243000-25246600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr10:25243000-25246600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr10:25243000-25246800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr10:25243000-25246800	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr10:25243000-25247000	Weak transcription	Rectal Smooth Muscle	rectum
30	chr10:25243000-25247200	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr10:25243000-25247200	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr10:25243000-25247200	Weak transcription	Fetal Brain Female	brain
33	chr10:25243000-25247200	Weak transcription	Stomach Mucosa	stomach
34	chr10:25243000-25247600	Weak transcription	Fetal Brain Male	brain
35	chr10:25243000-25251400	Weak transcription	Fetal Intestine Small	intestine
36	chr10:25243200-25247600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr10:25243200-25247600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr10:25243200-25247600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr10:25243400-25246400	Weak transcription	Fetal Stomach	stomach
40	chr10:25243400-25246800	Weak transcription	Colon Smooth Muscle	Colon
41	chr10:25243400-25246800	Weak transcription	K562	blood
42	chr10:25243600-25247200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr10:25245400-25247000	Enhancers	Brain Anterior Caudate	brain
44	chr10:25245600-25246200	Enhancers	Brain Substantia Nigra	brain
45	chr10:25245600-25246600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr10:25245600-25246800	Enhancers	Muscle Satellite Cultured Cells	--
47	chr10:25245600-25246800	Enhancers	Brain Hippocampus Middle	brain
48	chr10:25245600-25247000	Enhancers	Cortex derived primary cultured neurospheres	brain
49	chr10:25245600-25247000	Enhancers	Fetal Muscle Leg	muscle
50	chr10:25245600-25247200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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