Variant report

Variant	rs200730
Chromosome Location	chr10:25245721-25245722
allele	C/G
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	chr10:25245492..25247572-chr10:25252879..25256306,3	K562	blood:
3	chr10:25218576..25220907-chr10:25243610..25245926,2	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
ENSG00000107863	Chromatin interaction

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

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

rs_ID	r²[population]
rs12761282	0.82[ASN][1000 genomes]
rs185669	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2478091	0.80[ASN][1000 genomes]
rs274301	0.87[ASN][1000 genomes]
rs274302	0.90[ASN][1000 genomes]
rs274303	0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs274304	0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs274305	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs274306	0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs274307	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs274308	0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs274309	0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs274310	0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs274311	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs274312	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs274313	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs274316	0.82[ASN][1000 genomes]
rs3000491	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[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:71 , 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	chr10:25242600-25245800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr10:25242600-25245800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr10:25242600-25245800	Weak transcription	Osteobl	bone
14	chr10:25242600-25246800	Weak transcription	HUVEC	blood vessel
15	chr10:25242600-25247400	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr10:25242600-25247600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr10:25242600-25249000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr10:25242800-25245800	Weak transcription	Brain Angular Gyrus	brain
19	chr10:25242800-25246000	Weak transcription	NH-A	brain
20	chr10:25242800-25246600	Weak transcription	NHEK	skin
21	chr10:25242800-25247200	Weak transcription	Fetal Kidney	kidney
22	chr10:25242800-25247400	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr10:25242800-25247600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr10:25242800-25247800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr10:25242800-25247800	Weak transcription	Right Atrium	heart
26	chr10:25242800-25251400	Weak transcription	Fetal Intestine Large	intestine
27	chr10:25242800-25251600	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr10:25243000-25245800	Weak transcription	Brain Germinal Matrix	brain
29	chr10:25243000-25245800	Weak transcription	A549	lung
30	chr10:25243000-25246400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr10:25243000-25246400	Weak transcription	Fetal Muscle Trunk	muscle
32	chr10:25243000-25246600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr10:25243000-25246600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr10:25243000-25246800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr10:25243000-25246800	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr10:25243000-25247000	Weak transcription	Rectal Smooth Muscle	rectum
37	chr10:25243000-25247200	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr10:25243000-25247200	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr10:25243000-25247200	Weak transcription	Fetal Brain Female	brain
40	chr10:25243000-25247200	Weak transcription	Stomach Mucosa	stomach
41	chr10:25243000-25247600	Weak transcription	Fetal Brain Male	brain
42	chr10:25243000-25251400	Weak transcription	Fetal Intestine Small	intestine
43	chr10:25243200-25245800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr10:25243200-25247600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr10:25243200-25247600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr10:25243200-25247600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr10:25243400-25245800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
48	chr10:25243400-25245800	Weak transcription	NHLF	lung
49	chr10:25243400-25246000	Weak transcription	Adipose Nuclei	Adipose
50	chr10:25243400-25246400	Weak transcription	Fetal Stomach	stomach

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