Variant report

Variant	rs73106309
Chromosome Location	chr2:233672352-233672353
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs28631381	1.00[AMR][1000 genomes]
rs61750834	1.00[AMR][1000 genomes]
rs73092759	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73092774	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73102287	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73102744	1.00[AMR][1000 genomes]
rs73107107	1.00[AMR][1000 genomes]
rs73108323	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73108335	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73108362	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948470	chr2:233166262-233886732	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	nsv1005123	chr2:233227729-233920152	Enhancers Strong transcription Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS 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 miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv536173	chr2:233227729-233920152	Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
4	nsv834570	chr2:233639160-233805067	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv460134	chr2:233639909-233714686	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
6	nsv584696	chr2:233639909-233714686	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
7	esv3427756	chr2:233661496-233680721	Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:233649000-233680600	Strong transcription	Monocytes-CD14+_RO01746	blood
2	chr2:233655600-233689200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr2:233656800-233674000	Weak transcription	Fetal Heart	heart
4	chr2:233659800-233672400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr2:233660800-233688600	Weak transcription	Psoas Muscle	Psoas
6	chr2:233662400-233672400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr2:233662400-233672600	Weak transcription	K562	blood
8	chr2:233662600-233679800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:233665000-233692600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr2:233665400-233685800	Strong transcription	Fetal Lung	lung
11	chr2:233665800-233734200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr2:233666600-233680000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr2:233667600-233726400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr2:233667800-233693400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr2:233668000-233673400	Strong transcription	Primary hematopoietic stem cells	blood
16	chr2:233669000-233701800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr2:233669200-233682600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr2:233669200-233690400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
19	chr2:233669400-233678400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr2:233669400-233690400	Strong transcription	Dnd41	blood
21	chr2:233669400-233703600	Strong transcription	Liver	Liver
22	chr2:233669600-233682400	Strong transcription	HUES48 Cell Line	embryonic stem cell
23	chr2:233669600-233686200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr2:233669600-233690400	Strong transcription	Placenta	Placenta
25	chr2:233669600-233690800	Strong transcription	Primary T helper cells fromperipheralblood	blood
26	chr2:233669800-233681000	Strong transcription	Primary monocytes fromperipheralblood	blood
27	chr2:233669800-233686200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr2:233669800-233686400	Strong transcription	Primary B cells from peripheral blood	blood
29	chr2:233669800-233692000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr2:233670000-233672400	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr2:233670000-233678400	Strong transcription	HSMM	muscle
32	chr2:233670000-233679400	Strong transcription	Duodenum Smooth Muscle	Duodenum
33	chr2:233670000-233686200	Strong transcription	Primary T cells fromperipheralblood	blood
34	chr2:233670000-233690800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr2:233670000-233701600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
36	chr2:233670200-233678400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr2:233670200-233682400	Strong transcription	HUES64 Cell Line	embryonic stem cell
38	chr2:233670200-233683200	Strong transcription	Rectal Mucosa Donor 31	rectum
39	chr2:233670200-233684000	Strong transcription	GM12878-XiMat	blood
40	chr2:233670200-233688800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr2:233670200-233692200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr2:233670200-233699600	Strong transcription	Rectal Mucosa Donor 29	rectum
43	chr2:233670200-233702600	Strong transcription	HepG2	liver
44	chr2:233670600-233677400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr2:233670600-233678400	Strong transcription	Primary T cells from cord blood	blood
46	chr2:233670600-233678800	Strong transcription	Primary T helper cells PMA-I stimulated	--
47	chr2:233670600-233692600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr2:233670800-233673200	Strong transcription	Cortex derived primary cultured neurospheres	brain
49	chr2:233670800-233673400	Strong transcription	Colonic Mucosa	Colon
50	chr2:233670800-233678600	Strong transcription	Primary neutrophils fromperipheralblood	blood

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