Variant report

Variant	rs10793430
Chromosome Location	chr10:43883645-43883646
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:43868177..43875753-chr10:43880229..43888906,15	MCF-7	breast:
2	chr10:43872575..43876095-chr10:43882284..43884232,3	MCF-7	breast:
3	chr10:43848373..43851166-chr10:43883249..43887179,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000150201	Chromatin interaction

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10732897	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10793431	0.99[ASN][1000 genomes]
rs10899798	0.99[ASN][1000 genomes]
rs10899799	0.99[ASN][1000 genomes]
rs11238542	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1126487	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1126709	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1416226	0.99[ASN][1000 genomes]
rs2066043	0.96[ASN][1000 genomes]
rs2066044	0.96[ASN][1000 genomes]
rs2247860	0.94[ASN][1000 genomes]
rs2248332	0.89[ASN][1000 genomes]
rs2248335	0.94[ASN][1000 genomes]
rs2248469	0.94[ASN][1000 genomes]
rs2248706	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2252783	0.99[ASN][1000 genomes]
rs2252785	0.99[ASN][1000 genomes]
rs2252804	0.86[ASN][1000 genomes]
rs2256495	0.96[ASN][1000 genomes]
rs2256613	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2259045	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2260162	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2260200	0.91[ASN][1000 genomes]
rs2261665	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2265886	0.91[ASN][1000 genomes]
rs2265954	0.91[ASN][1000 genomes]
rs2393954	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2492403	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2492405	0.91[ASN][1000 genomes]
rs2492408	0.93[ASN][1000 genomes]
rs2492409	0.94[ASN][1000 genomes]
rs2492410	0.94[ASN][1000 genomes]
rs2492411	0.94[ASN][1000 genomes]
rs2492412	0.91[ASN][1000 genomes]
rs2493648	0.90[ASN][1000 genomes]
rs2812797	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2819021	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2819026	0.91[ASN][1000 genomes]
rs2999276	0.99[ASN][1000 genomes]
rs2999282	0.96[ASN][1000 genomes]
rs2999287	0.86[ASN][1000 genomes]
rs3000708	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3006408	0.83[ASN][1000 genomes]
rs3750890	0.83[ASN][1000 genomes]
rs4367906	0.82[EUR][1000 genomes]
rs4551711	0.91[ASN][1000 genomes]
rs4559639	0.90[ASN][1000 genomes]
rs4584528	0.91[ASN][1000 genomes]
rs4597022	0.99[ASN][1000 genomes]
rs56407131	0.83[EUR][1000 genomes]
rs6421744	0.83[ASN][1000 genomes]
rs7069214	0.91[ASN][1000 genomes]
rs7070769	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7081729	0.86[ASN][1000 genomes]
rs7089290	0.82[ASN][1000 genomes]
rs7092599	0.99[ASN][1000 genomes]
rs7894374	0.99[ASN][1000 genomes]
rs7905676	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7914140	0.80[ASN][1000 genomes]
rs7918726	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7920539	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9422371	0.83[ASN][1000 genomes]
rs9422512	0.81[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430159	chr10:43291894-43946294	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
2	nsv1043661	chr10:43626619-43890162	Bivalent Enhancer Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv540574	chr10:43626619-43890162	Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv895087	chr10:43783339-43982390	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
5	nsv831842	chr10:43846541-43987501	Strong transcription Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
6	nsv895088	chr10:43871999-44003101	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
7	nsv825354	chr10:43883418-43949936	Flanking Active TSS Active TSS Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:43858600-43891000	Weak transcription	Right Atrium	heart
2	chr10:43873200-43890200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr10:43873400-43891000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr10:43879200-43889800	Strong transcription	Brain Germinal Matrix	brain
5	chr10:43879400-43889400	Strong transcription	Fetal Brain Female	brain
6	chr10:43879600-43885800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
7	chr10:43879600-43889400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr10:43879800-43889400	Strong transcription	Rectal Mucosa Donor 29	rectum
9	chr10:43879800-43890600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr10:43880000-43885400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr10:43880000-43885400	Strong transcription	Skeletal Muscle Male	skeletal muscle
12	chr10:43880000-43886200	Strong transcription	Adipose Nuclei	Adipose
13	chr10:43880000-43888200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr10:43880000-43889400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr10:43880000-43889600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr10:43880000-43889600	Strong transcription	Thymus	Thymus
17	chr10:43880000-43890200	Strong transcription	Fetal Muscle Leg	muscle
18	chr10:43880000-43890200	Strong transcription	HSMMtube	muscle
19	chr10:43880000-43890400	Strong transcription	Fetal Muscle Trunk	muscle
20	chr10:43880000-43890800	Strong transcription	Muscle Satellite Cultured Cells	--
21	chr10:43880200-43885000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr10:43880200-43885400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr10:43880200-43885400	Strong transcription	Dnd41	blood
24	chr10:43880200-43885400	Strong transcription	HMEC	breast
25	chr10:43880200-43885800	Strong transcription	Placenta	Placenta
26	chr10:43880200-43888200	Strong transcription	Primary neutrophils fromperipheralblood	blood
27	chr10:43880200-43889000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
28	chr10:43880200-43890000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr10:43880200-43890200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr10:43880200-43890200	Strong transcription	Osteobl	bone
31	chr10:43880200-43890800	Strong transcription	HSMM	muscle
32	chr10:43880400-43884200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr10:43880400-43885800	Strong transcription	Brain Anterior Caudate	brain
34	chr10:43880400-43889000	Strong transcription	Primary monocytes fromperipheralblood	blood
35	chr10:43880400-43889000	Strong transcription	Monocytes-CD14+_RO01746	blood
36	chr10:43880400-43889600	Strong transcription	Sigmoid Colon	Sigmoid Colon
37	chr10:43880400-43890200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr10:43880400-43890400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr10:43880400-43890400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr10:43880400-43890800	Strong transcription	Hela-S3	cervix
41	chr10:43880600-43885000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr10:43880600-43885200	Strong transcription	A549	lung
43	chr10:43880600-43885400	Strong transcription	Duodenum Smooth Muscle	Duodenum
44	chr10:43880600-43889600	Strong transcription	Esophagus	oesophagus
45	chr10:43880600-43890600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr10:43880600-43890600	Strong transcription	NH-A	brain
47	chr10:43880800-43885400	Strong transcription	Liver	Liver
48	chr10:43880800-43885600	Strong transcription	Fetal Intestine Large	intestine
49	chr10:43880800-43889400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr10:43880800-43889800	Strong transcription	HUES64 Cell Line	embryonic stem cell

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