Variant report

Variant	rs73069772
Chromosome Location	chr2:211301166-211301167
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11884102	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11884181	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57335323	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58211283	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59537642	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60412797	1.00[AMR][1000 genomes]
rs73067660	1.00[AMR][1000 genomes]
rs73067699	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73069732	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73069733	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73069739	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73069746	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73069754	1.00[AMR][1000 genomes]
rs73069755	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73069756	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73069760	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73069766	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73069773	1.00[AMR][1000 genomes]
rs73069774	1.00[AMR][1000 genomes]
rs73069775	1.00[AMR][1000 genomes]
rs73069776	1.00[AMR][1000 genomes]
rs73069781	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73071705	1.00[AMR][1000 genomes]
rs73073540	1.00[AMR][1000 genomes]
rs73073545	1.00[AMR][1000 genomes]
rs73073546	1.00[AMR][1000 genomes]
rs73073547	1.00[AMR][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	nsv1012567	chr2:211087588-211315554	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv875767	chr2:211119233-211334647	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv3147	chr2:211281479-211326844	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA miRNA target site	2 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	chr2:211292400-211323000	Weak transcription	Fetal Brain Male	brain
2	chr2:211293000-211305800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr2:211293200-211307400	Strong transcription	Primary B cells from peripheral blood	blood
4	chr2:211293200-211307800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:211293200-211311600	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr2:211293800-211335400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr2:211294200-211301400	Strong transcription	Primary T cells from cord blood	blood
8	chr2:211294400-211303400	Weak transcription	NHLF	lung
9	chr2:211294800-211306200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr2:211294800-211306400	Strong transcription	Dnd41	blood
11	chr2:211294800-211322200	Weak transcription	K562	blood
12	chr2:211294800-211333200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr2:211295000-211306600	Strong transcription	Brain Cingulate Gyrus	brain
14	chr2:211295000-211307400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr2:211295000-211330400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr2:211295000-211336000	Weak transcription	Colonic Mucosa	Colon
17	chr2:211295000-211340600	Weak transcription	HUVEC	blood vessel
18	chr2:211295400-211309200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr2:211295600-211301800	Strong transcription	Stomach Smooth Muscle	stomach
20	chr2:211295600-211302000	Strong transcription	Brain Inferior Temporal Lobe	brain
21	chr2:211295600-211302400	Strong transcription	Primary hematopoietic stem cells	blood
22	chr2:211295600-211302400	Strong transcription	Brain Hippocampus Middle	brain
23	chr2:211295600-211305200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr2:211295600-211306200	Strong transcription	Adipose Nuclei	Adipose
25	chr2:211295600-211306600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr2:211295600-211307800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr2:211295600-211308000	Strong transcription	Primary T cells fromperipheralblood	blood
28	chr2:211295800-211301600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr2:211295800-211302600	Strong transcription	Liver	Liver
30	chr2:211295800-211302600	Strong transcription	Fetal Brain Female	brain
31	chr2:211295800-211305200	Strong transcription	HUES64 Cell Line	embryonic stem cell
32	chr2:211295800-211306000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr2:211295800-211306000	Strong transcription	HSMMtube	muscle
34	chr2:211295800-211307200	Strong transcription	Primary T helper cells fromperipheralblood	blood
35	chr2:211295800-211307400	Strong transcription	Fetal Thymus	thymus
36	chr2:211295800-211307600	Strong transcription	Primary T helper cells PMA-I stimulated	--
37	chr2:211296000-211301400	Strong transcription	H1 Cell Line	embryonic stem cell
38	chr2:211296000-211302000	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr2:211296000-211302200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
40	chr2:211296000-211302400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr2:211296000-211302400	Strong transcription	Duodenum Mucosa	Duodenum
42	chr2:211296000-211302400	Strong transcription	Monocytes-CD14+_RO01746	blood
43	chr2:211296000-211302600	Strong transcription	HUES48 Cell Line	embryonic stem cell
44	chr2:211296000-211302600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr2:211296000-211302800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr2:211296000-211302800	Strong transcription	Duodenum Smooth Muscle	Duodenum
47	chr2:211296000-211305600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr2:211296000-211305800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
49	chr2:211296000-211306000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr2:211296000-211307600	Strong transcription	Primary B cells from cord blood	blood

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