Variant report

Variant	rs2253173
Chromosome Location	chr8:95944636-95944637
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:95938382..95942226-chr8:95942291..95944810,3	MCF-7	breast:
2	chr8:95942676..95944374-chr8:95944587..95947556,2	MCF-7	breast:
3	chr8:95943585..95953194-chr8:95954184..95962168,12	MCF-7	breast:
4	chr8:95938390..95942310-chr8:95942961..95947841,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164938	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1017634	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10956930	0.83[YRI][hapmap]
rs1971212	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2013995	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2459963	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2459964	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2459965	1.00[CEU][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2466431	0.92[ASN][1000 genomes]
rs2467672	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2467673	0.95[ASN][1000 genomes]
rs2467674	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2467675	0.97[ASN][1000 genomes]
rs2467676	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2515235	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2515237	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3019175	0.84[YRI][hapmap]
rs36118131	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4735331	0.87[YRI][hapmap];0.83[AFR][1000 genomes]
rs4735332	0.90[YRI][hapmap];0.83[AFR][1000 genomes]
rs7001535	0.80[YRI][hapmap]
rs7015841	0.89[YRI][hapmap];0.83[AFR][1000 genomes]
rs7017487	0.89[YRI][hapmap];0.83[AFR][1000 genomes]
rs7760	0.97[ASN][1000 genomes]
rs896849	1.00[CEU][hapmap];0.86[YRI][hapmap];0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1017301	chr8:95273503-96248352	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv539680	chr8:95273503-96248352	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv532338	chr8:95296118-95971825	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	nsv891203	chr8:95883232-95948202	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv891204	chr8:95883232-95965135	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	nsv508520	chr8:95939373-96140068	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:95918600-95947400	Weak transcription	Small Intestine	intestine
2	chr8:95919200-95948600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr8:95926200-95946400	Weak transcription	Stomach Mucosa	stomach
4	chr8:95930600-95948600	Weak transcription	Gastric	stomach
5	chr8:95931800-95950000	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr8:95933400-95960600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr8:95933600-95949600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr8:95935200-95956400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr8:95935800-95952000	Weak transcription	NHEK	skin
10	chr8:95936400-95956800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr8:95936800-95946000	Strong transcription	Fetal Muscle Trunk	muscle
12	chr8:95937000-95956800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr8:95937200-95946000	Strong transcription	Placenta	Placenta
14	chr8:95937200-95953400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr8:95937200-95956000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr8:95937400-95946200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr8:95937400-95950800	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr8:95938400-95954200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr8:95938400-95954200	Strong transcription	NHDF-Ad	bronchial
20	chr8:95938600-95945600	Strong transcription	Osteobl	bone
21	chr8:95939000-95954000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr8:95939200-95946000	Strong transcription	Rectal Mucosa Donor 29	rectum
23	chr8:95939600-95945800	Strong transcription	Fetal Intestine Large	intestine
24	chr8:95939800-95948600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr8:95939800-95950000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr8:95940200-95945600	Strong transcription	Rectal Mucosa Donor 31	rectum
27	chr8:95940200-95946000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr8:95940600-95945600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr8:95940600-95945800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
30	chr8:95940600-95951200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr8:95941600-95945200	Weak transcription	Aorta	Aorta
32	chr8:95941600-95945800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
33	chr8:95941600-95946000	Strong transcription	Fetal Thymus	thymus
34	chr8:95941600-95953400	Strong transcription	Monocytes-CD14+_RO01746	blood
35	chr8:95941800-95945400	Strong transcription	Primary T cells fromperipheralblood	blood
36	chr8:95941800-95946800	Strong transcription	Liver	Liver
37	chr8:95941800-95947600	Weak transcription	Right Ventricle	heart
38	chr8:95941800-95952800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr8:95941800-95953200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr8:95941800-95953200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
41	chr8:95941800-95953200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr8:95941800-95953800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr8:95942000-95945400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr8:95942000-95945600	Strong transcription	Primary hematopoietic stem cells	blood
45	chr8:95942000-95947800	Weak transcription	Primary T cells from cord blood	blood
46	chr8:95942000-95947800	Weak transcription	Lung	lung
47	chr8:95942000-95948000	Weak transcription	Colonic Mucosa	Colon
48	chr8:95942000-95948200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr8:95942000-95952000	Strong transcription	Primary B cells from peripheral blood	blood
50	chr8:95942000-95953200	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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