Variant report

Variant	rs233110
Chromosome Location	chr1:85783140-85783141
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs233048	0.84[AFR][1000 genomes]
rs233049	0.84[AFR][1000 genomes]
rs233056	0.89[AFR][1000 genomes]
rs233065	0.89[AFR][1000 genomes]
rs233073	0.89[AFR][1000 genomes]
rs233076	0.89[AFR][1000 genomes]
rs233077	0.80[AFR][1000 genomes]
rs233082	0.84[AFR][1000 genomes]
rs233089	0.84[AFR][1000 genomes]
rs233092	0.84[AFR][1000 genomes]
rs233096	0.84[AFR][1000 genomes]
rs233123	0.95[AFR][1000 genomes]
rs414484	0.89[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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
3	nsv830459	chr1:85589585-85786311	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85774600-85785200	Weak transcription	Liver	Liver
2	chr1:85774600-85785800	Weak transcription	Fetal Intestine Large	intestine
3	chr1:85774600-85787000	Weak transcription	Fetal Stomach	stomach
4	chr1:85774600-85794800	Weak transcription	Spleen	Spleen
5	chr1:85774800-85784000	Weak transcription	HepG2	liver
6	chr1:85774800-85790400	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr1:85774800-85790600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr1:85774800-85794200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr1:85777400-85786400	Enhancers	NHLF	lung
10	chr1:85777600-85784000	Enhancers	NHDF-Ad	bronchial
11	chr1:85778200-85790400	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr1:85778400-85785600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr1:85778800-85786000	Enhancers	NHEK	skin
14	chr1:85778800-85788800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr1:85778800-85789600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr1:85779000-85785600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr1:85779600-85787400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr1:85780000-85791800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr1:85780000-85795800	Weak transcription	Rectal Smooth Muscle	rectum
20	chr1:85780200-85790400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr1:85780200-85795800	Weak transcription	Stomach Smooth Muscle	stomach
22	chr1:85780400-85788200	Weak transcription	Fetal Muscle Trunk	muscle
23	chr1:85780400-85791600	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr1:85780400-85793200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr1:85780400-85795800	Weak transcription	Gastric	stomach
26	chr1:85780800-85783400	Enhancers	Fetal Brain Female	brain
27	chr1:85780800-85784000	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr1:85780800-85786400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr1:85780800-85786400	Weak transcription	Right Ventricle	heart
30	chr1:85780800-85787600	Weak transcription	Fetal Muscle Leg	muscle
31	chr1:85781000-85785600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr1:85781000-85785800	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr1:85781400-85783200	Enhancers	Cortex derived primary cultured neurospheres	brain
34	chr1:85781400-85783400	Enhancers	Brain Germinal Matrix	brain
35	chr1:85781400-85783800	Weak transcription	A549	lung
36	chr1:85781400-85784200	Enhancers	Fetal Brain Male	brain
37	chr1:85781600-85783200	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr1:85781800-85783600	Weak transcription	Hela-S3	cervix
39	chr1:85781800-85783800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr1:85781800-85786000	Weak transcription	Placenta	Placenta
41	chr1:85781800-85786400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr1:85781800-85792800	Weak transcription	Pancreas	Pancrea
43	chr1:85782000-85783400	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr1:85782200-85783200	Enhancers	Aorta	Aorta
45	chr1:85782200-85783400	Enhancers	Left Ventricle	heart
46	chr1:85782200-85783600	Strong transcription	HSMMtube	muscle
47	chr1:85782200-85790600	Genic enhancers	Muscle Satellite Cultured Cells	--
48	chr1:85782400-85783200	Enhancers	Brain Cingulate Gyrus	brain
49	chr1:85782400-85783200	Strong transcription	Fetal Intestine Small	intestine
50	chr1:85782400-85783800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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