Variant report

Variant	rs10994249
Chromosome Location	chr10:52500129-52500130
allele	A/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:52382538..52386733-chr10:52497918..52501112,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000198964	Chromatin interaction
ENSG00000226200	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10508933	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10994563	0.82[EUR][1000 genomes]
rs10994585	0.83[EUR][1000 genomes]
rs11598887	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12357484	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12780124	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4282939	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4347324	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4460764	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs61856568	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61857127	0.88[AFR][1000 genomes];0.81[EUR][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	nsv895393	chr10:52413720-52530819	Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv948007	chr10:52414948-52500270	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv1035197	chr10:52446582-52622349	Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	esv1825222	chr10:52477544-52527856	Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:52498800-52500600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr10:52498800-52500600	Active TSS	HSMM	muscle
3	chr10:52498800-52500800	Active TSS	HUES6 Cell Line	embryonic stem cell
4	chr10:52499000-52500200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr10:52499000-52500200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr10:52499000-52500200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr10:52499000-52500200	Active TSS	Primary T helper naive cells from peripheral blood	blood
8	chr10:52499000-52500200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
9	chr10:52499000-52500200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr10:52499000-52500200	Active TSS	Liver	Liver
11	chr10:52499000-52500200	Active TSS	Brain Substantia Nigra	brain
12	chr10:52499000-52500200	Active TSS	Colon Smooth Muscle	Colon
13	chr10:52499000-52500200	Active TSS	Duodenum Smooth Muscle	Duodenum
14	chr10:52499000-52500200	Active TSS	Fetal Brain Female	brain
15	chr10:52499000-52500200	Active TSS	Pancreas	Pancrea
16	chr10:52499000-52500200	Active TSS	Rectal Mucosa Donor 29	rectum
17	chr10:52499000-52500200	Active TSS	K562	blood
18	chr10:52499000-52500200	Active TSS	Osteobl	bone
19	chr10:52499000-52500400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr10:52499000-52500400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr10:52499000-52500400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr10:52499000-52500400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
23	chr10:52499000-52500400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr10:52499000-52500400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr10:52499000-52500400	Active TSS	Brain Cingulate Gyrus	brain
26	chr10:52499000-52500400	Active TSS	Brain Germinal Matrix	brain
27	chr10:52499000-52500400	Active TSS	Colonic Mucosa	Colon
28	chr10:52499000-52500400	Active TSS	Fetal Intestine Large	intestine
29	chr10:52499000-52500400	Active TSS	Ovary	ovary
30	chr10:52499000-52500400	Active TSS	Thymus	Thymus
31	chr10:52499000-52500400	Active TSS	HSMMtube	muscle
32	chr10:52499000-52500600	Active TSS	H9 Cell Line	embryonic stem cell
33	chr10:52499000-52500600	Active TSS	HUES48 Cell Line	embryonic stem cell
34	chr10:52499000-52500600	Active TSS	iPS-15b Cell Line	embryonic stem cell
35	chr10:52499000-52500600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr10:52499000-52500600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
37	chr10:52499000-52500600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr10:52499000-52500600	Active TSS	Primary B cells from cord blood	blood
39	chr10:52499000-52500600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr10:52499000-52500600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr10:52499000-52500600	Active TSS	Brain Angular Gyrus	brain
42	chr10:52499000-52500600	Active TSS	Brain Anterior Caudate	brain
43	chr10:52499000-52500600	Active TSS	Brain Hippocampus Middle	brain
44	chr10:52499000-52500600	Active TSS	Brain Inferior Temporal Lobe	brain
45	chr10:52499000-52500600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
46	chr10:52499000-52500600	Active TSS	Fetal Kidney	kidney
47	chr10:52499000-52500600	Active TSS	Psoas Muscle	Psoas
48	chr10:52499000-52500600	Active TSS	Rectal Smooth Muscle	rectum
49	chr10:52499000-52500600	Active TSS	Right Ventricle	heart
50	chr10:52499000-52500600	Active TSS	A549	lung

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