Variant report

Variant	rs61769484
Chromosome Location	chr1:85815240-85815241
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs17387935	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17590006	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35092233	0.81[ASN][1000 genomes]
rs36062892	0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs3768226	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61769490	0.82[ASN][1000 genomes]
rs6669293	0.90[ASN][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	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
2	esv34165	chr1:85542040-85846249	Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85798800-85824800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:85798800-85824800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:85806400-85815800	Weak transcription	Pancreas	Pancrea
4	chr1:85808200-85815800	Weak transcription	Aorta	Aorta
5	chr1:85808400-85816000	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr1:85809000-85815800	Weak transcription	Ovary	ovary
7	chr1:85809200-85826000	Weak transcription	Fetal Brain Female	brain
8	chr1:85809200-85838400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr1:85809400-85826800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr1:85809400-85826800	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr1:85809600-85828800	Weak transcription	Brain Anterior Caudate	brain
12	chr1:85809800-85819000	Weak transcription	Brain Angular Gyrus	brain
13	chr1:85809800-85825400	Weak transcription	Rectal Smooth Muscle	rectum
14	chr1:85809800-85826000	Weak transcription	Stomach Mucosa	stomach
15	chr1:85810200-85816800	Weak transcription	Colon Smooth Muscle	Colon
16	chr1:85810200-85823600	Weak transcription	Primary hematopoietic stem cells	blood
17	chr1:85810400-85815800	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr1:85810600-85819600	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr1:85810600-85825000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr1:85811000-85819600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr1:85811200-85818600	Strong transcription	HSMM	muscle
22	chr1:85811200-85819600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr1:85811200-85822800	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr1:85811400-85818000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr1:85811600-85818200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr1:85812000-85816200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr1:85812000-85818400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr1:85813200-85816200	Strong transcription	Cortex derived primary cultured neurospheres	brain
29	chr1:85813200-85816600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr1:85813200-85817000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr1:85813200-85818000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr1:85813200-85818800	Strong transcription	Osteobl	bone
33	chr1:85813400-85816600	Strong transcription	Fetal Muscle Trunk	muscle
34	chr1:85813400-85816800	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr1:85813400-85817000	Strong transcription	NHDF-Ad	bronchial
36	chr1:85813400-85817200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr1:85813600-85816200	Strong transcription	HUES6 Cell Line	embryonic stem cell
38	chr1:85813600-85816600	Strong transcription	Muscle Satellite Cultured Cells	--
39	chr1:85813600-85816600	Strong transcription	Fetal Muscle Leg	muscle
40	chr1:85813600-85816600	Strong transcription	Rectal Mucosa Donor 31	rectum
41	chr1:85813600-85816600	Strong transcription	NHLF	lung
42	chr1:85813600-85816800	Strong transcription	Duodenum Mucosa	Duodenum
43	chr1:85813600-85817000	Strong transcription	Liver	Liver
44	chr1:85813600-85817600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr1:85813600-85818200	Strong transcription	Fetal Intestine Large	intestine
46	chr1:85813600-85818200	Strong transcription	HepG2	liver
47	chr1:85813600-85818200	Strong transcription	HUVEC	blood vessel
48	chr1:85813600-85818200	Strong transcription	NH-A	brain
49	chr1:85813800-85817600	Weak transcription	Brain Hippocampus Middle	brain
50	chr1:85814000-85816600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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