Variant report

Variant	rs4480092
Chromosome Location	chr8:100885600-100885601
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:100883878..100886257-chr8:100888292..100891367,3	K562	blood:
2	chr8:100880380..100882289-chr8:100885533..100888133,2	K562	blood:
3	chr8:100884579..100893900-chr8:100903048..100907419,14	MCF-7	breast:
4	chr8:100885069..100889340-chr8:100901652..100906366,5	K562	blood:
5	chr8:100885357..100886991-chr8:100888347..100890058,2	MCF-7	breast:
6	chr8:100883819..100886622-chr8:100903521..100905873,2	K562	blood:

Variant related genes	Relation type
ENSG00000164919	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10955222	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1130569	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1135382	0.94[CHB][hapmap];0.85[JPT][hapmap]
rs12541837	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12544943	1.00[CEU][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12545602	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12546882	0.82[ASN][1000 genomes]
rs12548344	0.81[ASN][1000 genomes]
rs12548827	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12548840	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13252579	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13253073	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13259066	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13264726	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13273257	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13277184	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13280341	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2305290	0.94[CHB][hapmap];0.82[JPT][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34029308	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs34830464	0.84[ASN][1000 genomes]
rs35031559	0.81[ASN][1000 genomes]
rs35135010	0.81[ASN][1000 genomes]
rs35615286	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35769167	0.82[ASN][1000 genomes]
rs35935983	0.88[EUR][1000 genomes]
rs4076509	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4409375	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4510829	0.88[CHB][hapmap]
rs4626565	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6468694	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6984511	0.95[ASN][1000 genomes]
rs6986006	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7009713	0.85[ASN][1000 genomes]
rs7015733	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7157	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7828241	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7831963	0.83[ASN][1000 genomes]
rs7832488	0.81[ASN][1000 genomes]
rs7840626	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs7844439	1.00[CHB][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033944	chr8:100737321-100916345	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	esv1830910	chr8:100791156-101114794	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:137 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:100846400-100903800	Weak transcription	Stomach Mucosa	stomach
2	chr8:100850200-100887600	Weak transcription	Psoas Muscle	Psoas
3	chr8:100858600-100894000	Weak transcription	Fetal Brain Male	brain
4	chr8:100860200-100893000	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr8:100860400-100887000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr8:100866200-100888000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr8:100868600-100898400	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr8:100871800-100887600	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr8:100872000-100898200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr8:100872800-100903800	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr8:100873000-100885800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr8:100873200-100886800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr8:100873400-100891200	Strong transcription	Primary neutrophils fromperipheralblood	blood
14	chr8:100877200-100887200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr8:100877600-100888800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr8:100877800-100887200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr8:100877800-100887800	Enhancers	Colon Smooth Muscle	Colon
18	chr8:100877800-100893400	Strong transcription	Primary T cells from cord blood	blood
19	chr8:100878000-100887200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr8:100879000-100890200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr8:100880200-100889600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
22	chr8:100880200-100893000	Strong transcription	Primary B cells from cord blood	blood
23	chr8:100880200-100895000	Strong transcription	Primary monocytes fromperipheralblood	blood
24	chr8:100880400-100892200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr8:100880400-100900000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr8:100880800-100893000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr8:100881000-100886200	Strong transcription	Spleen	Spleen
28	chr8:100881000-100886400	Weak transcription	Small Intestine	intestine
29	chr8:100881200-100892000	Strong transcription	Primary T cells fromperipheralblood	blood
30	chr8:100881600-100893800	Strong transcription	Primary B cells from peripheral blood	blood
31	chr8:100881800-100886600	Weak transcription	Fetal Kidney	kidney
32	chr8:100882000-100887400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr8:100882000-100895000	Strong transcription	Fetal Thymus	thymus
34	chr8:100882400-100891600	Strong transcription	Primary T helper cells fromperipheralblood	blood
35	chr8:100882600-100887600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr8:100882600-100890600	Weak transcription	Colonic Mucosa	Colon
37	chr8:100882600-100892600	Strong transcription	Dnd41	blood
38	chr8:100882600-100893800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
39	chr8:100882800-100885600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr8:100882800-100889200	Strong transcription	K562	blood
41	chr8:100882800-100891200	Strong transcription	Primary T helper cells PMA-I stimulated	--
42	chr8:100882800-100892800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr8:100882800-100893000	Strong transcription	Thymus	Thymus
44	chr8:100883000-100885600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr8:100883000-100886400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr8:100883000-100888200	Genic enhancers	Left Ventricle	heart
47	chr8:100883000-100889600	Strong transcription	Fetal Brain Female	brain
48	chr8:100883000-100890600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr8:100883000-100892200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr8:100883000-100896000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood

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