Variant report

Variant	rs73955783
Chromosome Location	chr2:133427074-133427075
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10205259	1.00[EUR][1000 genomes]
rs10439200	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10928434	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11884351	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13386133	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13392087	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13431116	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13431416	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16839091	1.00[ASN][1000 genomes]
rs16839330	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16840001	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56821454	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57381356	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57457802	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57987015	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59679606	1.00[ASN][1000 genomes]
rs60981588	1.00[ASN][1000 genomes]
rs6430372	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6719585	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6728913	1.00[ASN][1000 genomes]
rs73955769	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73955770	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73955772	1.00[ASN][1000 genomes]
rs73955775	1.00[ASN][1000 genomes]
rs73955778	1.00[ASN][1000 genomes]
rs73955780	1.00[ASN][1000 genomes]
rs73955781	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73955782	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73957619	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73957621	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7560906	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7561232	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7562087	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7565011	1.00[EUR][1000 genomes]
rs7565263	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7568136	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7570026	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7586082	1.00[ASN][1000 genomes]
rs7589749	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7591904	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7594881	1.00[EUR][1000 genomes]
rs7595948	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7596374	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7603184	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7606118	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1011421	chr2:132895241-133682185	Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv875137	chr2:133167263-133714142	Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv583158	chr2:133316092-133862100	Weak transcription ZNF genes & repeats Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv875138	chr2:133410921-133761794	Enhancers Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:133425400-133429200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
2	chr2:133425600-133427200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr2:133425600-133427600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr2:133425800-133427600	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr2:133425800-133429000	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
6	chr2:133425800-133429200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
7	chr2:133425800-133429200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
8	chr2:133425800-133429200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr2:133425800-133429200	Active TSS	Fetal Kidney	kidney
10	chr2:133426000-133427200	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
11	chr2:133426000-133427600	Flanking Bivalent TSS/Enh	Brain Inferior Temporal Lobe	brain
12	chr2:133426000-133427600	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
13	chr2:133426000-133427600	Bivalent Enhancer	Placenta	Placenta
14	chr2:133426000-133427600	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
15	chr2:133426000-133428200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr2:133426000-133428200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr2:133426000-133428800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
18	chr2:133426000-133428800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
19	chr2:133426000-133429000	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr2:133426000-133429000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr2:133426000-133429000	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
22	chr2:133426000-133429200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
23	chr2:133426000-133429400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
24	chr2:133426000-133429400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
25	chr2:133426200-133427600	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
26	chr2:133426200-133428000	Bivalent/Poised TSS	Fetal Intestine Small	intestine
27	chr2:133426200-133428800	Active TSS	Brain Anterior Caudate	brain
28	chr2:133426400-133427200	Bivalent/Poised TSS	NHLF	lung
29	chr2:133426400-133428000	Active TSS	Fetal Brain Female	brain
30	chr2:133426400-133428400	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr2:133426400-133429000	Active TSS	Pancreatic Islets	Pancreatic Islet
32	chr2:133426600-133427200	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
33	chr2:133426600-133427200	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
34	chr2:133426600-133427200	Flanking Bivalent TSS/Enh	Stomach Mucosa	stomach
35	chr2:133426600-133427400	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr2:133426600-133427400	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
37	chr2:133426600-133427400	Flanking Active TSS	Ovary	ovary
38	chr2:133426600-133427400	Flanking Bivalent TSS/Enh	Osteobl	bone
39	chr2:133426600-133427600	Flanking Active TSS	Pancreas	Pancrea
40	chr2:133426600-133427800	Bivalent/Poised TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr2:133426600-133428600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr2:133426600-133428600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr2:133426600-133428600	Flanking Bivalent TSS/Enh	NHEK	skin
44	chr2:133426600-133428800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr2:133426600-133428800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr2:133426600-133429000	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
47	chr2:133426600-133429000	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
48	chr2:133426600-133429000	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
49	chr2:133426600-133429000	Bivalent Enhancer	Spleen	Spleen
50	chr2:133426600-133429200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin

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