Variant report

Variant	rs233081
Chromosome Location	chr1:85814973-85814974
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs17127190	0.83[ASN][1000 genomes]
rs17127623	0.86[EUR][1000 genomes]
rs17127637	0.83[EUR][1000 genomes]
rs233075	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2389913	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3738111	0.85[EUR][1000 genomes]
rs4949902	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61769518	0.90[EUR][1000 genomes]
rs61769519	0.92[AFR][1000 genomes];0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61783053	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs61783054	0.86[EUR][1000 genomes]
rs761602	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[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:70 , 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	chr1:85800400-85815000	Weak transcription	Fetal Intestine Small	intestine
4	chr1:85806400-85815800	Weak transcription	Pancreas	Pancrea
5	chr1:85808200-85815800	Weak transcription	Aorta	Aorta
6	chr1:85808400-85816000	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr1:85809000-85815800	Weak transcription	Ovary	ovary
8	chr1:85809200-85826000	Weak transcription	Fetal Brain Female	brain
9	chr1:85809200-85838400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr1:85809400-85826800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr1:85809400-85826800	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr1:85809600-85828800	Weak transcription	Brain Anterior Caudate	brain
13	chr1:85809800-85815200	Weak transcription	Stomach Smooth Muscle	stomach
14	chr1:85809800-85819000	Weak transcription	Brain Angular Gyrus	brain
15	chr1:85809800-85825400	Weak transcription	Rectal Smooth Muscle	rectum
16	chr1:85809800-85826000	Weak transcription	Stomach Mucosa	stomach
17	chr1:85810200-85816800	Weak transcription	Colon Smooth Muscle	Colon
18	chr1:85810200-85823600	Weak transcription	Primary hematopoietic stem cells	blood
19	chr1:85810400-85815000	Weak transcription	Esophagus	oesophagus
20	chr1:85810400-85815800	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr1:85810600-85815000	Weak transcription	Adipose Nuclei	Adipose
22	chr1:85810600-85815000	Weak transcription	HMEC	breast
23	chr1:85810600-85819600	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr1:85810600-85825000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr1:85811000-85819600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr1:85811200-85815000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr1:85811200-85818600	Strong transcription	HSMM	muscle
28	chr1:85811200-85819600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr1:85811200-85822800	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr1:85811400-85818000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr1:85811600-85818200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr1:85812000-85816200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr1:85812000-85818400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr1:85813200-85816200	Strong transcription	Cortex derived primary cultured neurospheres	brain
35	chr1:85813200-85816600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr1:85813200-85817000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr1:85813200-85818000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr1:85813200-85818800	Strong transcription	Osteobl	bone
39	chr1:85813400-85816600	Strong transcription	Fetal Muscle Trunk	muscle
40	chr1:85813400-85816800	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr1:85813400-85817000	Strong transcription	NHDF-Ad	bronchial
42	chr1:85813400-85817200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr1:85813600-85816200	Strong transcription	HUES6 Cell Line	embryonic stem cell
44	chr1:85813600-85816600	Strong transcription	Muscle Satellite Cultured Cells	--
45	chr1:85813600-85816600	Strong transcription	Fetal Muscle Leg	muscle
46	chr1:85813600-85816600	Strong transcription	Rectal Mucosa Donor 31	rectum
47	chr1:85813600-85816600	Strong transcription	NHLF	lung
48	chr1:85813600-85816800	Strong transcription	Duodenum Mucosa	Duodenum
49	chr1:85813600-85817000	Strong transcription	Liver	Liver
50	chr1:85813600-85817600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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