Variant report

Variant	rs73297711
Chromosome Location	chr10:50650046-50650047
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:50641718..50643509-chr10:50649347..50652073,2	MCF-7	breast:
2	chr10:50648888..50650860-chr10:50652961..50655311,2	K562	blood:
3	chr10:50648534..50651045-chr10:50651718..50653272,2	MCF-7	breast:
4	chr10:50376986..50378609-chr10:50649744..50651324,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ERCC6-1	chr10:50641879-50655452	NONHSAT013306

Extended variants
information (count: 34 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17010116	1.00[AMR][1000 genomes]
rs4253017	1.00[AMR][1000 genomes]
rs4253025	1.00[AMR][1000 genomes]
rs4253037	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4253052	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4253074	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4253075	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4253096	1.00[AMR][1000 genomes]
rs4253111	1.00[AMR][1000 genomes]
rs4253143	1.00[AMR][1000 genomes]
rs4253146	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4253197	1.00[AMR][1000 genomes]
rs57612136	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58927526	1.00[AMR][1000 genomes]
rs61352664	1.00[AMR][1000 genomes]
rs61476133	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73296102	0.94[AFR][1000 genomes]
rs73297712	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73297721	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73297732	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73297734	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73297740	1.00[AMR][1000 genomes]
rs73297743	1.00[AMR][1000 genomes]
rs73297744	1.00[AMR][1000 genomes]
rs73297746	1.00[AMR][1000 genomes]
rs73305578	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73305599	1.00[AMR][1000 genomes]
rs73311019	0.85[AFR][1000 genomes];1.00[AMR][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	nsv895375	chr10:50306386-51028871	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	nsv534410	chr10:50317458-50826916	Weak transcription Bivalent Enhancer Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv895377	chr10:50588990-50678212	ZNF genes & repeats Bivalent Enhancer Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv831867	chr10:50607857-50788751	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	esv3346476	chr10:50610853-50987802	Bivalent/Poised TSS Bivalent Enhancer Active TSS Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
6	esv3385048	chr10:50610942-50988537	Flanking Bivalent TSS/Enh Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:50638400-50665800	Weak transcription	Gastric	stomach
2	chr10:50639000-50651800	Weak transcription	Aorta	Aorta
3	chr10:50645800-50655200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr10:50647200-50650200	Weak transcription	Liver	Liver
5	chr10:50648000-50662200	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr10:50648000-50662200	Weak transcription	Left Ventricle	heart
7	chr10:50648400-50662200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr10:50648800-50650600	Enhancers	Primary T helper naive cells from peripheral blood	blood
9	chr10:50649000-50652400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr10:50649400-50650200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
11	chr10:50649400-50650400	Enhancers	Placenta	Placenta
12	chr10:50649600-50650200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
13	chr10:50649600-50650200	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
14	chr10:50649600-50650200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
15	chr10:50649600-50650200	Enhancers	Lung	lung
16	chr10:50649600-50650200	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
17	chr10:50649600-50650400	Enhancers	H1 Cell Line	embryonic stem cell
18	chr10:50649600-50650400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr10:50649600-50650400	Active TSS	Primary T helper naive cells fromperipheralblood	blood
20	chr10:50649600-50650400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr10:50649600-50650400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr10:50649600-50650400	Enhancers	Placenta Amnion	Placenta Amnion
23	chr10:50649600-50650400	Enhancers	Spleen	Spleen
24	chr10:50649600-50650600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr10:50649600-50665600	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr10:50649800-50650200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr10:50649800-50650200	Enhancers	Primary B cells from peripheral blood	blood
28	chr10:50649800-50650200	Flanking Active TSS	Primary hematopoietic stem cells	blood
29	chr10:50649800-50650200	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr10:50649800-50650200	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
31	chr10:50649800-50650400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
32	chr10:50649800-50650400	Enhancers	Brain Germinal Matrix	brain
33	chr10:50649800-50650400	Active TSS	Duodenum Mucosa	Duodenum
34	chr10:50649800-50650400	Active TSS	Osteobl	bone
35	chr10:50649800-50650800	Enhancers	Primary T cells fromperipheralblood	blood
36	chr10:50649800-50650800	Active TSS	Fetal Lung	lung
37	chr10:50649800-50652200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr10:50650000-50650200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
39	chr10:50650000-50650200	Enhancers	Primary T helper cells PMA-I stimulated	--
40	chr10:50650000-50650200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
41	chr10:50650000-50650200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
42	chr10:50650000-50650200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr10:50650000-50650200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr10:50650000-50650200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr10:50650000-50650200	Weak transcription	Pancreas	Pancrea
46	chr10:50650000-50650200	Flanking Active TSS	Thymus	Thymus
47	chr10:50650000-50650400	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr10:50650000-50650400	Flanking Active TSS	Esophagus	oesophagus
49	chr10:50650000-50650400	Flanking Active TSS	Fetal Thymus	thymus
50	chr10:50650000-50650400	Enhancers	NH-A	brain

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