Variant report

Variant	rs893618
Chromosome Location	chr1:85513770-85513771
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10443172	0.84[ASN][1000 genomes]
rs12024977	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12028736	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12030837	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12037219	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12041012	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12042160	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2028304	0.84[ASN][1000 genomes]
rs2304641	0.82[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs2840050	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61768854	0.92[EUR][1000 genomes]
rs61769366	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61770879	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6665436	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6679539	0.84[ASN][1000 genomes]
rs6688354	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6700723	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7522239	0.84[ASN][1000 genomes]
rs7540706	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7547224	0.88[EUR][1000 genomes]
rs7547317	0.88[EUR][1000 genomes]
rs898036	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][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	nsv470724	chr1:85334788-85585260	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers 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	nsv462383	chr1:85334788-85594466	Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv546700	chr1:85334788-85594466	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv947434	chr1:85334915-85594135	Bivalent/Poised TSS Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	nsv1006994	chr1:85454304-86327679	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
6	esv3448123	chr1:85513114-85515312	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85512400-85515800	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr1:85512800-85514600	Bivalent/Poised TSS	Fetal Intestine Small	intestine
3	chr1:85512800-85514800	Bivalent/Poised TSS	Fetal Intestine Large	intestine
4	chr1:85513000-85513800	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
5	chr1:85513000-85513800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr1:85513000-85513800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr1:85513000-85513800	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
8	chr1:85513000-85514200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
9	chr1:85513000-85514200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
10	chr1:85513000-85514200	Bivalent/Poised TSS	Fetal Brain Female	brain
11	chr1:85513000-85514400	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr1:85513000-85514400	Active TSS	Duodenum Mucosa	Duodenum
13	chr1:85513000-85514400	Active TSS	Right Ventricle	heart
14	chr1:85513000-85514600	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr1:85513000-85514600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr1:85513000-85514600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr1:85513000-85514800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
18	chr1:85513000-85514800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr1:85513000-85515000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
20	chr1:85513000-85515000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
21	chr1:85513000-85515800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
22	chr1:85513000-85515800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
23	chr1:85513200-85513800	Flanking Bivalent TSS/Enh	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr1:85513200-85513800	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
25	chr1:85513200-85513800	Flanking Bivalent TSS/Enh	Placenta	Placenta
26	chr1:85513200-85513800	Flanking Active TSS	GM12878-XiMat	blood
27	chr1:85513200-85513800	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
28	chr1:85513200-85514000	Bivalent/Poised TSS	Psoas Muscle	Psoas
29	chr1:85513200-85514200	Bivalent/Poised TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr1:85513200-85514400	Bivalent/Poised TSS	Primary T helper naive cells fromperipheralblood	blood
31	chr1:85513200-85514400	Bivalent/Poised TSS	Osteobl	bone
32	chr1:85513200-85514600	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
33	chr1:85513200-85514600	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr1:85513200-85514600	Active TSS	Gastric	stomach
35	chr1:85513200-85514600	Bivalent Enhancer	Spleen	Spleen
36	chr1:85513200-85514800	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr1:85513200-85514800	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr1:85513200-85514800	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr1:85513200-85514800	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
40	chr1:85513200-85514800	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
41	chr1:85513200-85515000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
42	chr1:85513200-85515600	Active TSS	Pancreas	Pancrea
43	chr1:85513200-85515800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
44	chr1:85513400-85513800	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
45	chr1:85513400-85513800	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
46	chr1:85513400-85513800	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
47	chr1:85513400-85513800	Flanking Active TSS	Ovary	ovary
48	chr1:85513400-85513800	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
49	chr1:85513400-85514000	Bivalent/Poised TSS	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr1:85513400-85514200	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum

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