Variant report

Variant	rs2995545
Chromosome Location	chr10:93768362-93768363
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:93765227..93769197-chr10:93769906..93772761,3	K562	blood:
2	chr10:93767539..93770503-chr10:93771684..93774422,2	MCF-7	breast:
3	chr10:93768343..93770359-chr10:93773791..93775387,2	K562	blood:
4	chr10:93759429..93762295-chr10:93766132..93769049,2	K562	blood:

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs11186755	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11186768	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1137825	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11592774	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11598321	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11598436	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12413858	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12415793	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12416560	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12569736	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12571564	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12763600	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12766605	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12771773	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12774295	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12774665	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12777025	0.83[ASN][1000 genomes]
rs12779538	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12780724	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1340421	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1437	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1474051	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1581239	0.88[ASN][1000 genomes]
rs1626927	0.88[ASN][1000 genomes]
rs1711842	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1711846	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1711858	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1776210	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2252204	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2676802	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2676808	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2676809	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2676814	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2676817	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2676819	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2676820	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2676822	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2676825	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2792018	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2792022	0.90[ASN][1000 genomes]
rs2792025	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2797639	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2797647	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2995546	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34364047	0.81[ASN][1000 genomes]
rs3814639	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3814640	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4375360	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4933224	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4933705	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4933706	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4933707	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7904126	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7909492	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7917105	0.83[ASN][1000 genomes]
rs833366	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs833367	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs833370	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs833372	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs833373	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs833374	0.90[ASN][1000 genomes]
rs833375	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs833378	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs833384	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs855563	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][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	nsv1051226	chr10:93711296-93915586	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv540745	chr10:93711296-93915586	Weak transcription Enhancers Bivalent Enhancer Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv1042818	chr10:93715483-93855032	Strong transcription ZNF genes & repeats Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
4	nsv895893	chr10:93747260-93875264	Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:93704800-93807400	Weak transcription	Gastric	stomach
2	chr10:93709000-93771800	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr10:93718400-93774000	Weak transcription	Spleen	Spleen
4	chr10:93723800-93786600	Weak transcription	Colonic Mucosa	Colon
5	chr10:93736200-93784400	Weak transcription	Pancreas	Pancrea
6	chr10:93740400-93770800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr10:93743000-93795000	Weak transcription	Stomach Mucosa	stomach
8	chr10:93743400-93770200	Weak transcription	Brain Angular Gyrus	brain
9	chr10:93743400-93770600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr10:93743600-93772800	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr10:93743600-93772800	Weak transcription	Lung	lung
12	chr10:93743600-93786400	Weak transcription	Aorta	Aorta
13	chr10:93745000-93797200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr10:93745600-93778800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr10:93748600-93773400	Weak transcription	Psoas Muscle	Psoas
16	chr10:93749400-93768800	Weak transcription	NHLF	lung
17	chr10:93749400-93770000	Weak transcription	Brain Cingulate Gyrus	brain
18	chr10:93749600-93792200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr10:93750000-93768800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr10:93751800-93770400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr10:93752000-93777400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr10:93753600-93782400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr10:93754600-93783800	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr10:93754800-93768800	Weak transcription	Brain Anterior Caudate	brain
25	chr10:93754800-93770000	Weak transcription	Brain Hippocampus Middle	brain
26	chr10:93754800-93773800	Weak transcription	Colon Smooth Muscle	Colon
27	chr10:93754800-93782000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr10:93755800-93784200	Weak transcription	Esophagus	oesophagus
29	chr10:93756000-93772800	Weak transcription	HMEC	breast
30	chr10:93756400-93770000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
31	chr10:93757600-93768600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr10:93757600-93776200	Weak transcription	Fetal Kidney	kidney
33	chr10:93757800-93774000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr10:93757800-93785000	Weak transcription	Small Intestine	intestine
35	chr10:93758400-93768800	Weak transcription	HSMMtube	muscle
36	chr10:93758400-93769400	Weak transcription	Fetal Brain Male	brain
37	chr10:93758600-93769000	Weak transcription	Primary neutrophils fromperipheralblood	blood
38	chr10:93759600-93768600	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr10:93761000-93770400	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr10:93761200-93768800	Weak transcription	Fetal Brain Female	brain
41	chr10:93761200-93768800	Weak transcription	Rectal Smooth Muscle	rectum
42	chr10:93761200-93771600	Weak transcription	NHEK	skin
43	chr10:93761200-93774000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr10:93761200-93794600	Strong transcription	Primary monocytes fromperipheralblood	blood
45	chr10:93761400-93769800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr10:93761600-93768600	Weak transcription	Stomach Smooth Muscle	stomach
47	chr10:93761600-93768800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr10:93761600-93768800	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr10:93761600-93769000	Weak transcription	K562	blood
50	chr10:93762200-93769000	Weak transcription	Primary hematopoietic stem cells	blood

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