Variant report

Variant	rs11598392
Chromosome Location	chr10:45409397-45409398
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:45406784..45409410-chr10:45454257..45456258,2	K562	blood:
2	chr10:45409366..45410933-chr10:45414161..45416346,2	K562	blood:
3	chr10:45402937..45405855-chr10:45407880..45411438,3	K562	blood:

Variant related genes	Relation type
ENSG00000234504	Chromatin interaction
ENSG00000273363	Chromatin interaction
ENSG00000107551	Chromatin interaction
ENSG00000224812	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10900135	0.80[CEU][hapmap]
rs11239287	0.89[ASN][1000 genomes]
rs11595747	0.88[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs1332628	1.00[CHB][hapmap];0.89[ASN][1000 genomes]
rs17417060	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17515726	0.85[ASN][1000 genomes]
rs72778871	0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs72780637	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs949607	1.00[CHB][hapmap];0.89[ASN][1000 genomes]
rs952956	1.00[CHB][hapmap];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv517161	chr10:45210690-45416256	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv831845	chr10:45300268-45460395	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv831846	chr10:45322236-45556370	Bivalent Enhancer Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv466909	chr10:45408011-45446791	Enhancers Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv550714	chr10:45408011-45446791	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:45401400-45415600	Weak transcription	Fetal Brain Female	brain
2	chr10:45401600-45410200	Enhancers	Fetal Muscle Leg	muscle
3	chr10:45403800-45410000	Enhancers	Pancreas	Pancrea
4	chr10:45404600-45409400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr10:45406400-45419000	Weak transcription	Stomach Smooth Muscle	stomach
6	chr10:45406600-45409400	Active TSS	Fetal Kidney	kidney
7	chr10:45406600-45410000	Enhancers	Lung	lung
8	chr10:45407200-45410000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr10:45407200-45411600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr10:45407400-45409400	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr10:45407600-45409400	Weak transcription	Fetal Intestine Large	intestine
12	chr10:45407600-45409400	Enhancers	Fetal Muscle Trunk	muscle
13	chr10:45407600-45409400	Weak transcription	Right Ventricle	heart
14	chr10:45407600-45411400	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr10:45407800-45422800	Weak transcription	Ovary	ovary
16	chr10:45408000-45409400	Weak transcription	Colonic Mucosa	Colon
17	chr10:45408000-45410000	Enhancers	Thymus	Thymus
18	chr10:45408200-45409600	Enhancers	Left Ventricle	heart
19	chr10:45408200-45410000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr10:45408200-45410000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
21	chr10:45408200-45410200	Enhancers	Primary T helper naive cells from peripheral blood	blood
22	chr10:45408200-45410200	Enhancers	Primary T helper cells fromperipheralblood	blood
23	chr10:45408200-45410400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
24	chr10:45408200-45410400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
25	chr10:45408400-45409400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr10:45408400-45409400	Enhancers	Placenta	Placenta
27	chr10:45408400-45409600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
28	chr10:45408400-45409600	Enhancers	Rectal Mucosa Donor 31	rectum
29	chr10:45408400-45409800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
30	chr10:45408400-45409800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr10:45408400-45409800	Enhancers	Rectal Mucosa Donor 29	rectum
32	chr10:45408600-45409600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr10:45408600-45409600	Enhancers	Fetal Stomach	stomach
34	chr10:45408600-45409600	Enhancers	HSMMtube	muscle
35	chr10:45408600-45409800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
36	chr10:45408600-45410200	Flanking Active TSS	Dnd41	blood
37	chr10:45408600-45417200	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr10:45408800-45409400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr10:45408800-45409400	Enhancers	Fetal Intestine Small	intestine
40	chr10:45408800-45409600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr10:45408800-45409600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr10:45408800-45409600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
43	chr10:45408800-45409600	Flanking Active TSS	Fetal Heart	heart
44	chr10:45408800-45409600	Enhancers	Fetal Lung	lung
45	chr10:45408800-45409600	Genic enhancers	Right Atrium	heart
46	chr10:45408800-45409800	Enhancers	Primary B cells from peripheral blood	blood
47	chr10:45408800-45409800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr10:45408800-45410000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
49	chr10:45408800-45410200	Enhancers	Gastric	stomach
50	chr10:45408800-45410200	Enhancers	Spleen	Spleen

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