Variant report

Variant	rs233094
Chromosome Location	chr1:85823777-85823778
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs182845	0.86[AFR][1000 genomes]
rs20862	0.90[AFR][1000 genomes]
rs233043	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs233044	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs233063	0.90[AFR][1000 genomes]
rs233064	0.89[AFR][1000 genomes]
rs233083	1.00[AMR][1000 genomes]
rs233084	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs233085	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs233086	1.00[AMR][1000 genomes]
rs233088	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs233090	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs233122	0.86[AFR][1000 genomes]
rs233126	0.86[AFR][1000 genomes]
rs233129	0.90[AFR][1000 genomes]
rs2474121	0.90[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	nsv830470	chr1:85820775-86014080	Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 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	chr1:85809200-85826000	Weak transcription	Fetal Brain Female	brain
4	chr1:85809200-85838400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr1:85809400-85826800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr1:85809400-85826800	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr1:85809600-85828800	Weak transcription	Brain Anterior Caudate	brain
8	chr1:85809800-85825400	Weak transcription	Rectal Smooth Muscle	rectum
9	chr1:85809800-85826000	Weak transcription	Stomach Mucosa	stomach
10	chr1:85810600-85825000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr1:85814000-85824800	Weak transcription	Psoas Muscle	Psoas
12	chr1:85814200-85824800	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr1:85814200-85839600	Weak transcription	Left Ventricle	heart
14	chr1:85814400-85824800	Weak transcription	Gastric	stomach
15	chr1:85815400-85824600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr1:85816000-85831400	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr1:85816000-85839600	Weak transcription	Pancreas	Pancrea
18	chr1:85816200-85826000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr1:85816400-85829000	Weak transcription	Stomach Smooth Muscle	stomach
20	chr1:85816600-85824200	Weak transcription	Right Ventricle	heart
21	chr1:85816600-85824800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr1:85816600-85824800	Weak transcription	Aorta	Aorta
23	chr1:85816600-85825000	Weak transcription	Esophagus	oesophagus
24	chr1:85816600-85826600	Weak transcription	Adipose Nuclei	Adipose
25	chr1:85816600-85826800	Weak transcription	Fetal Muscle Leg	muscle
26	chr1:85816600-85827400	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr1:85816600-85836800	Weak transcription	Fetal Muscle Trunk	muscle
28	chr1:85816800-85826800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr1:85817200-85824600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr1:85817600-85824600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr1:85818000-85824600	Weak transcription	NHLF	lung
32	chr1:85818000-85824800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr1:85818200-85824800	Weak transcription	NH-A	brain
34	chr1:85818200-85826600	Weak transcription	Fetal Intestine Large	intestine
35	chr1:85818200-85826800	Weak transcription	Fetal Stomach	stomach
36	chr1:85818400-85825000	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr1:85819600-85823800	Strong transcription	HSMM	muscle
38	chr1:85821400-85824000	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr1:85821600-85824000	Strong transcription	NHDF-Ad	bronchial
40	chr1:85822200-85825000	Weak transcription	HUVEC	blood vessel
41	chr1:85822400-85824000	Strong transcription	Muscle Satellite Cultured Cells	--
42	chr1:85822600-85824000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr1:85822600-85824600	Strong transcription	Osteobl	bone
44	chr1:85822800-85824000	Strong transcription	HepG2	liver
45	chr1:85822800-85826600	Weak transcription	Fetal Kidney	kidney
46	chr1:85823000-85824000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr1:85823000-85824400	Strong transcription	Fetal Intestine Small	intestine
48	chr1:85823000-85825600	Weak transcription	Brain Cingulate Gyrus	brain
49	chr1:85823200-85824600	Weak transcription	A549	lung
50	chr1:85823200-85824800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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