Variant report

Variant	rs10094940
Chromosome Location	chr8:126360056-126360057
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:126360008..126362836-chr8:126364930..126366678,2	K562	blood:
2	chr8:126353075..126354762-chr8:126358675..126361112,2	K562	blood:
3	chr8:126359782..126362737-chr8:126363798..126365592,2	MCF-7	breast:
4	chr8:126358884..126360882-chr8:126442521..126445312,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000173334	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10088674	0.88[YRI][hapmap];1.00[AMR][1000 genomes]
rs10090983	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10099782	1.00[MEX][hapmap];0.92[MKK][hapmap]
rs10100523	1.00[ASW][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.81[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10101223	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10104088	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10105662	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10106950	1.00[TSI][hapmap]
rs10107980	1.00[MEX][hapmap]
rs10111261	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10111919	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10481079	1.00[AMR][1000 genomes]
rs10481154	0.86[ASW][hapmap];0.90[LWK][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes]
rs11994181	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11996045	0.94[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16900487	1.00[TSI][hapmap]
rs28502126	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28609750	1.00[EUR][1000 genomes]
rs28620783	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28786389	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56704677	0.93[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[TSI][hapmap];1.00[EUR][1000 genomes]
rs73704922	1.00[AMR][1000 genomes]
rs73704932	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73704933	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73704935	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73704936	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73704952	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7840900	1.00[EUR][1000 genomes]
rs9297715	1.00[MEX][hapmap];0.86[MKK][hapmap];1.00[TSI][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	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:68 , 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	chr8:126332600-126369400	Weak transcription	Fetal Stomach	stomach
4	chr8:126342000-126369400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr8:126344600-126362400	Weak transcription	Primary T cells from cord blood	blood
6	chr8:126348800-126369800	Weak transcription	Gastric	stomach
7	chr8:126351400-126360400	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr8:126352200-126362000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr8:126352200-126363000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr8:126353200-126369600	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr8:126353600-126365000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr8:126354000-126381200	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr8:126354600-126361000	Weak transcription	Dnd41	blood
14	chr8:126354800-126369000	Weak transcription	Ovary	ovary
15	chr8:126354800-126371800	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr8:126354800-126379800	Weak transcription	Pancreas	Pancrea
17	chr8:126354800-126380400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr8:126354800-126381600	Weak transcription	Brain Anterior Caudate	brain
19	chr8:126354800-126383200	Weak transcription	Brain Angular Gyrus	brain
20	chr8:126355000-126361000	Weak transcription	Psoas Muscle	Psoas
21	chr8:126355000-126361200	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr8:126355000-126365000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr8:126355000-126369400	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr8:126355000-126369600	Weak transcription	Fetal Intestine Large	intestine
25	chr8:126355000-126374600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr8:126355200-126360200	Enhancers	Primary neutrophils fromperipheralblood	blood
27	chr8:126355200-126361000	Weak transcription	Fetal Intestine Small	intestine
28	chr8:126355200-126362400	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr8:126355200-126369400	Weak transcription	Left Ventricle	heart
30	chr8:126355200-126369400	Weak transcription	Spleen	Spleen
31	chr8:126355200-126369400	Weak transcription	K562	blood
32	chr8:126355200-126369800	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr8:126355200-126373000	Weak transcription	NH-A	brain
34	chr8:126355200-126374800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr8:126355200-126374800	Weak transcription	HMEC	breast
36	chr8:126355200-126378800	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr8:126355400-126362400	Weak transcription	Thymus	Thymus
38	chr8:126355400-126366800	Weak transcription	HepG2	liver
39	chr8:126355400-126369600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr8:126355600-126361000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr8:126355600-126361600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr8:126355600-126365000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr8:126355600-126369200	Weak transcription	Fetal Muscle Leg	muscle
44	chr8:126355600-126369400	Weak transcription	Adipose Nuclei	Adipose
45	chr8:126355600-126374200	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr8:126355600-126374400	Weak transcription	NHLF	lung
47	chr8:126355600-126374600	Weak transcription	NHDF-Ad	bronchial
48	chr8:126355600-126375200	Weak transcription	Small Intestine	intestine
49	chr8:126355800-126361000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr8:126355800-126369400	Weak transcription	Primary hematopoietic stem cells	blood

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