Variant report

Variant	rs871995
Chromosome Location	chr10:53992834-53992835
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10762671	0.86[EUR][1000 genomes]
rs10762676	0.83[EUR][1000 genomes]
rs1194501	0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1194505	0.80[EUR][1000 genomes]
rs1194508	0.88[EUR][1000 genomes]
rs1194511	0.90[EUR][1000 genomes]
rs1194512	0.91[EUR][1000 genomes]
rs1194513	0.91[EUR][1000 genomes]
rs1194520	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1213068	0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1609539	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1699304	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs1729578	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1729581	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56219653	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7905077	0.86[EUR][1000 genomes]
rs9416051	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045692	chr10:53301450-54086823	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	esv2750961	chr10:53726294-54010594	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv532194	chr10:53746620-54735550	Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv895399	chr10:53900872-54219820	Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	esv2621844	chr10:53982660-54033949	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	esv5974	chr10:53984049-54034016	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	esv3377297	chr10:53984068-54034061	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	esv3359737	chr10:53984078-54034047	Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	esv3361575	chr10:53984134-54034048	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	esv3494769	chr10:53984145-54034011	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	esv3494770	chr10:53984145-54034011	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
12	esv3378490	chr10:53984169-54034027	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
13	esv3376659	chr10:53984202-54033986	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
14	esv3072	chr10:53984224-54034020	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
15	esv3371586	chr10:53984271-54033985	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
16	nsv982876	chr10:53989312-53999791	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	lncRNA	n/a	inside rSNPs	n/a

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:53990800-53993000	Enhancers	Primary B cells from peripheral blood	blood
2	chr10:53991800-53993000	Enhancers	GM12878-XiMat	blood
3	chr10:53991800-53993200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr10:53992400-53993000	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr10:53992400-53993000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr10:53992400-53993000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr10:53992400-53993000	Enhancers	Adipose Nuclei	Adipose
8	chr10:53992400-53993000	Flanking Active TSS	Duodenum Mucosa	Duodenum
9	chr10:53992400-53993000	Flanking Active TSS	Fetal Lung	lung
10	chr10:53992400-53993000	Flanking Active TSS	A549	lung
11	chr10:53992400-53993200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr10:53992400-53993200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr10:53992400-53993200	Enhancers	NH-A	brain
14	chr10:53992600-53993000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
15	chr10:53992600-53993000	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
16	chr10:53992600-53993000	Flanking Active TSS	Primary B cells from cord blood	blood
17	chr10:53992600-53993000	Flanking Active TSS	Primary hematopoietic stem cells	blood
18	chr10:53992600-53993000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
19	chr10:53992600-53993000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr10:53992600-53993000	Enhancers	Liver	Liver
21	chr10:53992600-53993000	Enhancers	Brain Substantia Nigra	brain
22	chr10:53992600-53993000	Active TSS	Fetal Brain Male	brain
23	chr10:53992600-53993000	Flanking Active TSS	Fetal Intestine Small	intestine
24	chr10:53992600-53993000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
25	chr10:53992600-53993000	Flanking Active TSS	Hela-S3	cervix
26	chr10:53992600-53993000	Flanking Active TSS	HMEC	breast
27	chr10:53992600-53993000	Flanking Active TSS	HUVEC	blood vessel
28	chr10:53992600-53993000	Flanking Active TSS	NHEK	skin
29	chr10:53992600-53993200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr10:53992600-53993200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr10:53992600-53993200	Active TSS	HUES64 Cell Line	embryonic stem cell
32	chr10:53992600-53993200	Active TSS	iPS-20b Cell Line	embryonic stem cell
33	chr10:53992800-53993000	Flanking Active TSS	ES-WA7 Cell Line	embryonic stem cell
34	chr10:53992800-53993000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr10:53992800-53993000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
36	chr10:53992800-53993000	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
37	chr10:53992800-53993000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr10:53992800-53993000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr10:53992800-53993000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
40	chr10:53992800-53993000	Flanking Active TSS	Primary T cells from cord blood	blood
41	chr10:53992800-53993000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
42	chr10:53992800-53993000	Flanking Active TSS	Brain Hippocampus Middle	brain
43	chr10:53992800-53993000	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
44	chr10:53992800-53993200	Active TSS	H1 Cell Line	embryonic stem cell
45	chr10:53992800-53993200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr10:53992800-53993200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr10:53992800-53993200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr10:53992800-53993200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr10:53992800-53993200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr10:53992800-53993200	Active TSS	Brain Anterior Caudate	brain

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