Variant report

Variant	rs45520040
Chromosome Location	chr10:22957411-22957412
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:22956707..22959461-chr10:22967862..22970334,2	MCF-7	breast:
2	chr10:22957083..22958946-chr10:22960169..22962668,2	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10159697	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10159847	1.00[ASN][1000 genomes]
rs11013105	0.84[ASN][1000 genomes]
rs11013106	0.84[ASN][1000 genomes]
rs12098721	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12260163	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16922560	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs16922564	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16922566	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16922578	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16922580	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16922586	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17525760	0.82[EUR][1000 genomes]
rs35355312	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45484796	0.84[ASN][1000 genomes]
rs45496900	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs45620939	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61228116	0.84[ASN][1000 genomes]
rs6482227	0.84[ASN][1000 genomes]
rs7071198	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7075499	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs7090286	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7100490	0.84[ASN][1000 genomes]
rs7909660	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7915780	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7919243	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7924019	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs997650	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1830947	chr10:22881196-23004381	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv831809	chr10:22918101-23069676	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:22936400-22958000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr10:22942400-22959800	Weak transcription	Right Ventricle	heart
3	chr10:22945000-22958000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr10:22945400-22958400	Weak transcription	Fetal Muscle Trunk	muscle
5	chr10:22946200-22961600	Weak transcription	Aorta	Aorta
6	chr10:22948000-22961400	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr10:22948200-22958400	Weak transcription	Fetal Muscle Leg	muscle
8	chr10:22949000-22959800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr10:22949000-22965000	Weak transcription	Right Atrium	heart
10	chr10:22949200-22958200	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr10:22949200-22969600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr10:22949800-22960600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr10:22950000-22961400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr10:22952000-22963000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr10:22952000-22970200	Weak transcription	Esophagus	oesophagus
16	chr10:22952200-22958200	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr10:22952200-22960400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr10:22952400-22961400	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr10:22952400-22970000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr10:22954400-22958600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr10:22954600-22958400	Weak transcription	Small Intestine	intestine
22	chr10:22954800-22959000	Flanking Active TSS	Primary T cells from cord blood	blood
23	chr10:22955200-22959600	Enhancers	Brain Substantia Nigra	brain
24	chr10:22955800-22957600	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr10:22955800-22958400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr10:22955800-22958800	Enhancers	Brain Hippocampus Middle	brain
27	chr10:22955800-22958800	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr10:22955800-22959400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr10:22955800-22959400	Weak transcription	Osteobl	bone
30	chr10:22955800-22962800	Weak transcription	Fetal Kidney	kidney
31	chr10:22955800-22970200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr10:22956000-22957600	Weak transcription	Fetal Lung	lung
33	chr10:22956000-22957600	Enhancers	K562	blood
34	chr10:22956000-22958200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
35	chr10:22956000-22958200	Weak transcription	Duodenum Mucosa	Duodenum
36	chr10:22956000-22958600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr10:22956000-22959000	Enhancers	Primary hematopoietic stem cells	blood
38	chr10:22956000-22960200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr10:22956000-22970400	Weak transcription	NHLF	lung
40	chr10:22956200-22957600	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr10:22956200-22958200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
42	chr10:22956200-22958400	Weak transcription	Monocytes-CD14+_RO01746	blood
43	chr10:22956200-22959000	Enhancers	Primary hematopoietic stem cells short term culture	blood
44	chr10:22956200-22961600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr10:22956200-22968200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
46	chr10:22956200-22970200	Weak transcription	Liver	Liver
47	chr10:22956400-22957600	Enhancers	GM12878-XiMat	blood
48	chr10:22956400-22957800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr10:22956400-22958000	Weak transcription	A549	lung
50	chr10:22956400-22958200	Weak transcription	Primary neutrophils fromperipheralblood	blood

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