Variant report

Variant	rs2453992
Chromosome Location	chr8:104052272-104052273
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:104045509..104048275-chr8:104050555..104052724,2	K562	blood:
2	chr8:104032046..104035103-chr8:104046210..104052873,7	MCF-7	breast:
3	chr8:104032224..104033767-chr8:104051242..104053456,2	MCF-7	breast:
4	chr8:104051919..104053637-chr8:104061729..104063502,2	MCF-7	breast:
5	chr8:104050500..104052814-chr8:104310432..104312578,2	MCF-7	breast:
6	chr8:104046808..104050874-chr8:104051306..104055177,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000247081	Chromatin interaction
ENSG00000164930	Chromatin interaction
ENSG00000155097	Chromatin interaction
ENSG00000254236	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs1159227	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1398270	0.90[YRI][hapmap]
rs1398271	0.90[YRI][hapmap]
rs1398272	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1473820	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1512350	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1512352	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1512353	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1512354	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16870120	1.00[CHB][hapmap]
rs16870122	1.00[CHB][hapmap]
rs16870125	1.00[CHB][hapmap]
rs2017133	1.00[CEU][hapmap];0.82[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2047374	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2132861	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2132862	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2132863	0.89[YRI][hapmap]
rs2132864	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2132865	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2132866	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2248718	0.82[YRI][hapmap]
rs2388374	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2453993	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2453997	0.90[YRI][hapmap]
rs2454041	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2454042	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2454044	0.90[YRI][hapmap]
rs2454047	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2454048	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2458273	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2458274	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2458275	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2458282	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2458292	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2458294	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2515193	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2515196	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2515201	0.90[YRI][hapmap]
rs2515202	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2515204	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2935587	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3019160	1.00[CEU][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3019164	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3019165	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3133430	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs924211	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33118	chr8:103358567-104068172	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:104034200-104068800	Weak transcription	Small Intestine	intestine
2	chr8:104034400-104059400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr8:104034400-104069400	Weak transcription	Esophagus	oesophagus
4	chr8:104034600-104053000	Weak transcription	Fetal Muscle Trunk	muscle
5	chr8:104034600-104059800	Weak transcription	A549	lung
6	chr8:104034600-104063600	Weak transcription	HSMMtube	muscle
7	chr8:104034600-104068400	Weak transcription	Right Ventricle	heart
8	chr8:104034800-104053000	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr8:104034800-104054200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr8:104034800-104054200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr8:104034800-104054400	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr8:104034800-104058800	Weak transcription	HSMM	muscle
13	chr8:104034800-104058800	Weak transcription	NH-A	brain
14	chr8:104034800-104065600	Weak transcription	Fetal Kidney	kidney
15	chr8:104034800-104074600	Weak transcription	NHEK	skin
16	chr8:104035200-104053200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr8:104035200-104054200	Weak transcription	Placenta	Placenta
18	chr8:104035400-104053000	Weak transcription	Fetal Intestine Large	intestine
19	chr8:104035400-104053600	Weak transcription	Fetal Muscle Leg	muscle
20	chr8:104035400-104054200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr8:104035400-104054600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr8:104035400-104061800	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr8:104035400-104071200	Weak transcription	Brain Angular Gyrus	brain
24	chr8:104035600-104053000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr8:104035600-104053200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr8:104035600-104054200	Weak transcription	Primary T cells fromperipheralblood	blood
27	chr8:104035600-104054600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr8:104035600-104054600	Weak transcription	Stomach Smooth Muscle	stomach
29	chr8:104035800-104053600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr8:104035800-104054200	Weak transcription	Fetal Lung	lung
31	chr8:104035800-104054200	Weak transcription	Dnd41	blood
32	chr8:104035800-104059400	Weak transcription	Thymus	Thymus
33	chr8:104035800-104061800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr8:104036000-104056600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
35	chr8:104036200-104054000	Weak transcription	Fetal Thymus	thymus
36	chr8:104036200-104054200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr8:104036200-104065200	Weak transcription	Colon Smooth Muscle	Colon
38	chr8:104036400-104054200	Weak transcription	Primary B cells from peripheral blood	blood
39	chr8:104036800-104053200	Weak transcription	Adipose Nuclei	Adipose
40	chr8:104036800-104054600	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr8:104036800-104061200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr8:104037200-104063400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr8:104037200-104071400	Weak transcription	Fetal Brain Female	brain
44	chr8:104037800-104053000	Weak transcription	Primary T helper cells PMA-I stimulated	--
45	chr8:104037800-104053200	Weak transcription	Brain Germinal Matrix	brain
46	chr8:104038000-104066800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
47	chr8:104038200-104053000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr8:104038200-104054600	Weak transcription	K562	blood
49	chr8:104038400-104053000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr8:104038400-104053000	Weak transcription	Duodenum Smooth Muscle	Duodenum

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