Variant report

Variant	rs11996045
Chromosome Location	chr8:126355396-126355397
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:126341424..126343336-chr8:126353093..126355921,2	MCF-7	breast:
2	chr8:126344782..126348434-chr8:126350693..126355502,7	K562	blood:
3	chr8:126355313..126358836-chr8:126365344..126367404,3	MCF-7	breast:
4	chr8:126337105..126338773-chr8:126354692..126356214,2	K562	blood:
5	chr8:126218358..126220845-chr8:126354499..126357060,2	K562	blood:
6	chr8:126349657..126352524-chr8:126353800..126356280,3	K562	blood:
7	chr8:126347469..126349929-chr8:126354038..126356701,2	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10088674	0.94[YRI][hapmap];1.00[AMR][1000 genomes]
rs10090983	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10094940	0.94[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10100523	0.88[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10101223	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10104088	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10105662	0.89[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10111234	1.00[EUR][1000 genomes]
rs10111261	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10111919	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10481079	0.84[YRI][hapmap];1.00[AMR][1000 genomes]
rs10481154	0.81[YRI][hapmap];1.00[AMR][1000 genomes]
rs11994181	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28502126	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28609750	1.00[EUR][1000 genomes]
rs28620783	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28786389	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56704677	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57062304	1.00[EUR][1000 genomes]
rs58585963	1.00[AMR][1000 genomes]
rs7004396	1.00[EUR][1000 genomes]
rs73704922	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73704932	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73704933	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73704935	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73704936	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73704952	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7840900	1.00[EUR][1000 genomes]

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	nsv949614	chr8:126063646-126376699	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
2	esv3410448	chr8:126339813-126418053	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:126322000-126374200	Weak transcription	Aorta	Aorta
2	chr8:126330800-126369200	Weak transcription	Primary T helper cells fromperipheralblood	blood
3	chr8:126331200-126357400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr8:126332600-126369400	Weak transcription	Fetal Stomach	stomach
5	chr8:126340000-126359600	Weak transcription	Primary T cells fromperipheralblood	blood
6	chr8:126342000-126369400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr8:126344600-126362400	Weak transcription	Primary T cells from cord blood	blood
8	chr8:126348800-126369800	Weak transcription	Gastric	stomach
9	chr8:126351400-126360400	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr8:126352200-126362000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr8:126352200-126363000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr8:126353000-126355400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
13	chr8:126353200-126355600	Enhancers	Small Intestine	intestine
14	chr8:126353200-126356000	Enhancers	Fetal Thymus	thymus
15	chr8:126353200-126369600	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr8:126353400-126355600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr8:126353400-126355600	Enhancers	Adipose Nuclei	Adipose
18	chr8:126353400-126355800	Enhancers	Primary hematopoietic stem cells	blood
19	chr8:126353400-126355800	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr8:126353600-126355400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr8:126353600-126355600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr8:126353600-126356400	Enhancers	Primary B cells from peripheral blood	blood
23	chr8:126353600-126365000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr8:126354000-126355600	Enhancers	Sigmoid Colon	Sigmoid Colon
25	chr8:126354000-126381200	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr8:126354200-126355400	Enhancers	HepG2	liver
27	chr8:126354200-126355400	Enhancers	HUVEC	blood vessel
28	chr8:126354400-126355400	Enhancers	Thymus	Thymus
29	chr8:126354400-126355600	Enhancers	Brain Hippocampus Middle	brain
30	chr8:126354600-126355600	Enhancers	Fetal Heart	heart
31	chr8:126354600-126361000	Weak transcription	Dnd41	blood
32	chr8:126354800-126356800	Enhancers	Liver	Liver
33	chr8:126354800-126369000	Weak transcription	Ovary	ovary
34	chr8:126354800-126371800	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr8:126354800-126379800	Weak transcription	Pancreas	Pancrea
36	chr8:126354800-126380400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr8:126354800-126381600	Weak transcription	Brain Anterior Caudate	brain
38	chr8:126354800-126383200	Weak transcription	Brain Angular Gyrus	brain
39	chr8:126355000-126355400	Weak transcription	Fetal Muscle Leg	muscle
40	chr8:126355000-126355400	Enhancers	Rectal Mucosa Donor 31	rectum
41	chr8:126355000-126356400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr8:126355000-126356800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
43	chr8:126355000-126358800	Weak transcription	Duodenum Mucosa	Duodenum
44	chr8:126355000-126361000	Weak transcription	Psoas Muscle	Psoas
45	chr8:126355000-126361200	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr8:126355000-126365000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr8:126355000-126369400	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr8:126355000-126369600	Weak transcription	Fetal Intestine Large	intestine
49	chr8:126355000-126374600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr8:126355200-126355400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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