Variant report

Variant	rs73293198
Chromosome Location	chr10:49549240-49549241
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:49540944..49543155-chr10:49549106..49551548,2	MCF-7	breast:
2	chr10:49544127..49546033-chr10:49548139..49550800,2	K562	blood:

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10735224	0.81[AFR][1000 genomes]
rs10735225	0.81[AFR][1000 genomes]
rs10776599	0.81[AFR][1000 genomes]
rs1542153	1.00[EUR][1000 genomes]
rs1550774	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1881739	0.90[AFR][1000 genomes]
rs1919705	0.89[AFR][1000 genomes]
rs1978998	0.90[AFR][1000 genomes]
rs2590379	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2590380	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2590387	0.94[AFR][1000 genomes]
rs2590388	0.87[AFR][1000 genomes]
rs2590390	0.87[AFR][1000 genomes]
rs2698760	0.94[AFR][1000 genomes]
rs2698765	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2698769	0.87[AFR][1000 genomes]
rs3730154	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs41301111	1.00[EUR][1000 genomes]
rs4141840	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs58181014	0.89[AFR][1000 genomes]
rs59377405	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60467447	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61343950	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7072065	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7073628	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7085678	0.87[AFR][1000 genomes]
rs73293121	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73293181	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73298383	1.00[EUR][1000 genomes]
rs73300395	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74130210	0.83[EUR][1000 genomes]
rs74130216	1.00[EUR][1000 genomes]
rs7894863	0.81[AFR][1000 genomes]
rs7901179	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv895366	chr10:49299274-49576454	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv895368	chr10:49381635-49551560	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv467190	chr10:49402084-49576878	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv550811	chr10:49402084-49576878	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv895371	chr10:49492075-50232180	Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
6	nsv6587	chr10:49526329-49571804	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:49516400-49559600	Weak transcription	Rectal Smooth Muscle	rectum
2	chr10:49520200-49549800	Weak transcription	HUVEC	blood vessel
3	chr10:49522800-49550800	Weak transcription	Small Intestine	intestine
4	chr10:49525800-49551800	Weak transcription	Adipose Nuclei	Adipose
5	chr10:49526200-49552000	Weak transcription	NH-A	brain
6	chr10:49529000-49550800	Weak transcription	K562	blood
7	chr10:49530800-49554600	Weak transcription	Fetal Brain Male	brain
8	chr10:49538600-49551400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr10:49538800-49551200	Weak transcription	Brain Substantia Nigra	brain
10	chr10:49538800-49551400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr10:49539000-49551800	Weak transcription	NHLF	lung
12	chr10:49539200-49555000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr10:49539600-49553400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr10:49539800-49549800	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr10:49540400-49551200	Weak transcription	Ovary	ovary
16	chr10:49540400-49554000	Weak transcription	Pancreas	Pancrea
17	chr10:49540600-49549600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr10:49540600-49551800	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr10:49540800-49551600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr10:49541000-49549600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr10:49541000-49551800	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr10:49541000-49551800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr10:49541000-49554000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr10:49541200-49551000	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr10:49541200-49559400	Weak transcription	Fetal Lung	lung
26	chr10:49541400-49553800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr10:49541600-49549600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr10:49542000-49554000	Weak transcription	Fetal Thymus	thymus
29	chr10:49542800-49550000	Weak transcription	Left Ventricle	heart
30	chr10:49542800-49551200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr10:49542800-49551200	Weak transcription	Aorta	Aorta
32	chr10:49542800-49551800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr10:49542800-49552000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr10:49542800-49568000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr10:49543000-49549800	Weak transcription	Psoas Muscle	Psoas
36	chr10:49543000-49551000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr10:49543000-49551800	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr10:49543000-49553800	Weak transcription	Right Ventricle	heart
39	chr10:49543000-49576200	Weak transcription	Right Atrium	heart
40	chr10:49543200-49549800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr10:49543200-49552000	Weak transcription	Primary B cells from cord blood	blood
42	chr10:49543200-49554800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr10:49543200-49554800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr10:49545400-49552000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr10:49545800-49555800	Weak transcription	Primary T cells from cord blood	blood
46	chr10:49546600-49549600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr10:49547000-49553600	Weak transcription	Primary hematopoietic stem cells	blood
48	chr10:49548400-49551800	Weak transcription	GM12878-XiMat	blood
49	chr10:49548800-49551600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr10:49549000-49549600	Weak transcription	Skeletal Muscle Female	skeletal muscle

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