Variant report

Variant	rs233056
Chromosome Location	chr1:85798765-85798766
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs233048	0.95[AFR][1000 genomes]
rs233049	0.95[AFR][1000 genomes]
rs233065	1.00[AFR][1000 genomes]
rs233073	1.00[AFR][1000 genomes]
rs233076	1.00[AFR][1000 genomes]
rs233077	0.90[AFR][1000 genomes]
rs233082	0.95[AFR][1000 genomes]
rs233089	0.95[AFR][1000 genomes]
rs233092	0.95[AFR][1000 genomes]
rs233096	0.95[AFR][1000 genomes]
rs233110	0.89[AFR][1000 genomes]
rs233123	0.95[AFR][1000 genomes]
rs414484	1.00[AFR][1000 genomes]
rs641864	0.84[AFR][1000 genomes]
rs6685360	0.84[AFR][1000 genomes]
rs684569	0.84[AFR][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:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85790600-85800000	Enhancers	HUVEC	blood vessel
2	chr1:85792200-85806000	Weak transcription	Fetal Kidney	kidney
3	chr1:85796200-85799800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr1:85796600-85799600	Enhancers	Osteobl	bone
5	chr1:85796600-85801800	Weak transcription	Gastric	stomach
6	chr1:85796600-85804000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr1:85796600-85809400	Weak transcription	Stomach Mucosa	stomach
8	chr1:85796800-85799600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr1:85796800-85804200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr1:85796800-85805400	Weak transcription	Aorta	Aorta
11	chr1:85796800-85805400	Weak transcription	HepG2	liver
12	chr1:85796800-85806400	Weak transcription	Small Intestine	intestine
13	chr1:85796800-85809600	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr1:85797000-85800600	Weak transcription	HMEC	breast
15	chr1:85797000-85805000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr1:85797400-85798800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr1:85797400-85799000	Enhancers	Fetal Muscle Trunk	muscle
18	chr1:85797400-85800200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr1:85797600-85798800	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr1:85797600-85799200	Genic enhancers	HSMM	muscle
21	chr1:85797600-85800400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr1:85797600-85803600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr1:85797800-85798800	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr1:85797800-85799200	Strong transcription	Fetal Intestine Small	intestine
25	chr1:85798000-85798800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr1:85798000-85798800	Enhancers	Skeletal Muscle Male	skeletal muscle
27	chr1:85798000-85799000	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr1:85798000-85799200	Genic enhancers	Muscle Satellite Cultured Cells	--
29	chr1:85798200-85798800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr1:85798200-85798800	ZNF genes & repeats	Lung	lung
31	chr1:85798200-85799000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr1:85798200-85799000	ZNF genes & repeats	Fetal Stomach	stomach
33	chr1:85798200-85799600	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr1:85798200-85800400	Weak transcription	NH-A	brain
35	chr1:85798400-85798800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr1:85798400-85798800	Weak transcription	Primary B cells from peripheral blood	blood
37	chr1:85798400-85798800	Enhancers	Fetal Muscle Leg	muscle
38	chr1:85798400-85803400	Weak transcription	Hela-S3	cervix
39	chr1:85798400-85804200	Weak transcription	Right Ventricle	heart
40	chr1:85798400-85806200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr1:85798600-85798800	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr1:85798600-85798800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr1:85798600-85798800	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
44	chr1:85798600-85798800	ZNF genes & repeats	Ovary	ovary
45	chr1:85798600-85799000	ZNF genes & repeats	Fetal Intestine Large	intestine
46	chr1:85798600-85800200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr1:85798600-85800200	Weak transcription	HSMMtube	muscle

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