Variant report

Variant	rs2381883
Chromosome Location	chr8:95540332-95540333
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:95531024..95534923-chr8:95539065..95540883,3	K562	blood:
2	chr8:95536103..95541001-chr8:95541149..95546680,4	MCF-7	breast:
3	chr8:95539636..95541198-chr8:95564562..95567296,2	MCF-7	breast:
4	chr8:95539618..95543703-chr8:95563899..95568056,6	MCF-7	breast:
5	chr8:95533781..95536601-chr8:95538847..95541074,2	K562	blood:
6	chr8:95539392..95541672-chr8:95550945..95553259,2	MCF-7	breast:
7	chr8:95539818..95541551-chr8:95651175..95653324,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000254315	Chromatin interaction
ENSG00000164944	Chromatin interaction
ENSG00000253704	Chromatin interaction
ENSG00000261437	Chromatin interaction
ENSG00000104413	Chromatin interaction

Extended variants
information (count: 89 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:84)

rs_ID	r²[population]
rs10086307	0.96[EUR][1000 genomes]
rs10086311	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10087221	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10089982	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10090029	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10090628	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10093542	0.96[EUR][1000 genomes]
rs10094155	1.00[EUR][1000 genomes]
rs10094298	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10094477	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10095474	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10095883	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10097107	0.96[EUR][1000 genomes]
rs10098298	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10098682	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10102139	0.96[EUR][1000 genomes]
rs10103436	0.96[EUR][1000 genomes]
rs10104301	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10104797	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10105476	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10106455	0.96[EUR][1000 genomes]
rs10110389	0.96[EUR][1000 genomes]
rs10111251	0.96[EUR][1000 genomes]
rs10111789	0.84[AMR][1000 genomes]
rs10217108	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10441536	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10441537	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1055798	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12334369	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12334578	0.96[EUR][1000 genomes]
rs12334783	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12334844	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12334990	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12335104	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13438933	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13438940	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13439154	0.96[EUR][1000 genomes]
rs13439558	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13439676	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2119461	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28386976	0.96[EUR][1000 genomes]
rs28397924	0.96[EUR][1000 genomes]
rs28406352	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28409018	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28420254	0.96[EUR][1000 genomes]
rs28436849	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28449797	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs28475734	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28480604	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28481457	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28498495	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28502182	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28524089	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28526027	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28539788	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs28542193	0.96[EUR][1000 genomes]
rs28563951	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28564036	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28572173	0.96[EUR][1000 genomes]
rs28608052	0.96[EUR][1000 genomes]
rs28634264	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28666401	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28681034	0.96[EUR][1000 genomes]
rs28775004	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28805925	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28829590	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28848914	0.89[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs28897138	0.84[AMR][1000 genomes]
rs3136421	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4567002	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56859277	0.96[EUR][1000 genomes]
rs57897120	0.96[EUR][1000 genomes]
rs6992902	0.96[EUR][1000 genomes]
rs6998829	0.96[EUR][1000 genomes]
rs73695616	0.96[EUR][1000 genomes]
rs73695617	0.96[EUR][1000 genomes]
rs73695619	0.96[EUR][1000 genomes]
rs73695620	0.96[EUR][1000 genomes]
rs73695622	0.96[EUR][1000 genomes]
rs73695624	0.96[EUR][1000 genomes]
rs73698013	0.96[EUR][1000 genomes]
rs7835534	1.00[AFR][1000 genomes]
rs8117	1.00[EUR][1000 genomes]
rs9297938	0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	nsv429928	chr8:95488800-95672033	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
5	nsv611750	chr8:95519205-95574634	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:95493000-95549200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr8:95495600-95541000	Weak transcription	Esophagus	oesophagus
3	chr8:95497200-95564200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr8:95498400-95554000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr8:95499400-95552200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr8:95501200-95541000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr8:95516800-95554600	Strong transcription	Fetal Thymus	thymus
8	chr8:95520400-95555200	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr8:95520600-95552400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr8:95524000-95540400	Weak transcription	Colonic Mucosa	Colon
11	chr8:95527600-95548600	Strong transcription	Fetal Muscle Leg	muscle
12	chr8:95528000-95542400	Weak transcription	Pancreas	Pancrea
13	chr8:95528400-95540800	Weak transcription	Spleen	Spleen
14	chr8:95528400-95541200	Weak transcription	Right Ventricle	heart
15	chr8:95528400-95542400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr8:95531600-95540800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr8:95532800-95558800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr8:95534000-95543600	Strong transcription	Primary B cells from peripheral blood	blood
19	chr8:95534200-95545000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr8:95535400-95556000	Weak transcription	Fetal Heart	heart
21	chr8:95535800-95540800	Weak transcription	Small Intestine	intestine
22	chr8:95535800-95549800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr8:95535800-95555600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr8:95536000-95555600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr8:95536200-95541000	Weak transcription	Stomach Mucosa	stomach
26	chr8:95536200-95549200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr8:95536400-95552200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
28	chr8:95536600-95541400	Strong transcription	Primary hematopoietic stem cells	blood
29	chr8:95536600-95542400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr8:95536600-95557000	Strong transcription	Primary T helper cells fromperipheralblood	blood
31	chr8:95536800-95543200	Strong transcription	Rectal Smooth Muscle	rectum
32	chr8:95536800-95543400	Strong transcription	Brain Germinal Matrix	brain
33	chr8:95536800-95546600	Strong transcription	Placenta Amnion	Placenta Amnion
34	chr8:95536800-95549800	Strong transcription	Fetal Muscle Trunk	muscle
35	chr8:95536800-95550600	Strong transcription	Rectal Mucosa Donor 29	rectum
36	chr8:95536800-95551400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr8:95536800-95552400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr8:95536800-95556600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr8:95537000-95541600	Strong transcription	Fetal Kidney	kidney
40	chr8:95537000-95541800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr8:95537000-95541800	Strong transcription	Skeletal Muscle Female	skeletal muscle
42	chr8:95537000-95543400	Strong transcription	Brain Inferior Temporal Lobe	brain
43	chr8:95537000-95543600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr8:95537000-95543600	Strong transcription	A549	lung
45	chr8:95537000-95544400	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
46	chr8:95537000-95545200	Strong transcription	Fetal Brain Female	brain
47	chr8:95537000-95545200	Strong transcription	HepG2	liver
48	chr8:95537000-95547000	Strong transcription	Cortex derived primary cultured neurospheres	brain
49	chr8:95537000-95547800	Strong transcription	Brain Anterior Caudate	brain
50	chr8:95537000-95548000	Strong transcription	Thymus	Thymus

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