Variant report

Variant	rs2639716
Chromosome Location	chr1:225829854-225829855
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10753406	0.81[EUR][1000 genomes]
rs10799317	0.81[EUR][1000 genomes]
rs10799318	0.82[EUR][1000 genomes]
rs10799319	0.82[EUR][1000 genomes]
rs10915833	0.81[EUR][1000 genomes]
rs10915839	0.81[EUR][1000 genomes]
rs10915847	0.83[EUR][1000 genomes]
rs11584675	0.81[EUR][1000 genomes]
rs12028305	0.82[EUR][1000 genomes]
rs2639703	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2639712	0.82[EUR][1000 genomes]
rs2657564	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2657569	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2840958	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2840967	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2840968	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3820226	0.81[EUR][1000 genomes]
rs3856156	0.81[EUR][1000 genomes]
rs4653643	0.81[EUR][1000 genomes]
rs476540	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs487591	0.88[EUR][1000 genomes]
rs498350	0.91[EUR][1000 genomes]
rs510293	0.84[EUR][1000 genomes]
rs511649	0.88[EUR][1000 genomes]
rs516249	0.87[EUR][1000 genomes]
rs551996	0.84[EUR][1000 genomes]
rs554744	0.84[EUR][1000 genomes]
rs554992	0.90[EUR][1000 genomes]
rs561656	0.91[EUR][1000 genomes]
rs576861	0.84[EUR][1000 genomes]
rs6426076	0.81[EUR][1000 genomes]
rs6668770	0.81[EUR][1000 genomes]
rs6751	0.81[EUR][1000 genomes]
rs712062	0.88[EUR][1000 genomes]
rs7515907	0.81[EUR][1000 genomes]
rs7524766	0.81[EUR][1000 genomes]
rs7540181	0.83[EUR][1000 genomes]
rs7541598	0.81[EUR][1000 genomes]
rs7555139	0.83[EUR][1000 genomes]
rs7555553	0.81[EUR][1000 genomes]
rs9804142	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832725	chr1:225726998-225910121	Weak transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv832736	chr1:225815717-225968619	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:225809800-225837800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr1:225813600-225837600	Weak transcription	HUVEC	blood vessel
3	chr1:225813800-225838600	Weak transcription	HMEC	breast
4	chr1:225814600-225835800	Weak transcription	HSMMtube	muscle
5	chr1:225815600-225830000	Weak transcription	Pancreas	Pancrea
6	chr1:225815800-225839000	Weak transcription	Fetal Intestine Large	intestine
7	chr1:225816000-225830000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr1:225816000-225832400	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr1:225816000-225834200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr1:225816000-225838400	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr1:225816000-225838600	Weak transcription	Fetal Kidney	kidney
12	chr1:225816200-225835400	Weak transcription	Fetal Heart	heart
13	chr1:225816200-225836000	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr1:225816200-225836600	Weak transcription	Adipose Nuclei	Adipose
15	chr1:225816800-225832000	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr1:225817200-225834000	Weak transcription	Psoas Muscle	Psoas
17	chr1:225819000-225831000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr1:225819000-225832200	Weak transcription	NHDF-Ad	bronchial
19	chr1:225819200-225830000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr1:225819200-225830000	Weak transcription	Gastric	stomach
21	chr1:225819600-225836400	Weak transcription	Brain Angular Gyrus	brain
22	chr1:225820000-225835800	Weak transcription	Brain Anterior Caudate	brain
23	chr1:225820800-225837200	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr1:225823400-225830800	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr1:225823600-225830000	Weak transcription	Right Ventricle	heart
26	chr1:225823600-225834200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr1:225823800-225830000	Strong transcription	NH-A	brain
28	chr1:225823800-225835400	Weak transcription	Brain Hippocampus Middle	brain
29	chr1:225823800-225836600	Weak transcription	NHLF	lung
30	chr1:225824000-225830000	Weak transcription	Stomach Mucosa	stomach
31	chr1:225824000-225832200	Weak transcription	Colon Smooth Muscle	Colon
32	chr1:225824200-225834400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr1:225824400-225830000	Weak transcription	Rectal Smooth Muscle	rectum
34	chr1:225825000-225837400	Weak transcription	Hela-S3	cervix
35	chr1:225825600-225831600	Strong transcription	Fetal Muscle Leg	muscle
36	chr1:225825600-225839600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr1:225825800-225837200	Weak transcription	NHEK	skin
38	chr1:225826200-225838800	Weak transcription	Fetal Intestine Small	intestine
39	chr1:225826200-225839400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr1:225826400-225830000	Weak transcription	Fetal Brain Male	brain
41	chr1:225826600-225831000	Strong transcription	HUES48 Cell Line	embryonic stem cell
42	chr1:225826800-225833600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
43	chr1:225827000-225831600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr1:225827400-225834000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr1:225827600-225830000	Weak transcription	Lung	lung
46	chr1:225827600-225830200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr1:225827600-225832800	Strong transcription	HUES6 Cell Line	embryonic stem cell
48	chr1:225827800-225832400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr1:225827800-225836000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr1:225828200-225832400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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