Variant report

Variant	rs1133950
Chromosome Location	chr8:117783914-117783915
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr8:117783885-117783974	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:117783766..117785704-chr8:117889249..117891473,2	K562	blood:

Variant related genes	Relation type
EIF3H	TF binding region

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10087312	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs10105870	0.98[EUR][1000 genomes]
rs10112726	0.98[EUR][1000 genomes]
rs10505289	0.87[ASW][hapmap];1.00[CEU][hapmap];0.82[GIH][hapmap];0.82[LWK][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16888613	0.91[CEU][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes]
rs16888689	0.91[AMR][1000 genomes]
rs16888720	1.00[CEU][hapmap];0.95[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28554010	0.98[EUR][1000 genomes]
rs4492407	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4602925	1.00[ASW][hapmap];1.00[GIH][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes]
rs59540933	0.91[EUR][1000 genomes]
rs60927118	0.98[EUR][1000 genomes]
rs67123278	0.96[EUR][1000 genomes]
rs7004565	0.81[EUR][1000 genomes]
rs921066	1.00[CEU][hapmap];0.83[GIH][hapmap];1.00[TSI][hapmap];0.98[EUR][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	nsv530386	chr8:117509968-118391406	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:117779800-117784800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr8:117779800-117794600	Weak transcription	Fetal Muscle Trunk	muscle
3	chr8:117780000-117795600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr8:117780200-117784800	Weak transcription	Fetal Kidney	kidney
5	chr8:117780400-117784000	Weak transcription	Gastric	stomach
6	chr8:117780400-117784200	Weak transcription	Brain Germinal Matrix	brain
7	chr8:117780400-117784600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr8:117780400-117784600	Weak transcription	Esophagus	oesophagus
9	chr8:117780400-117785200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr8:117780400-117785400	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr8:117780400-117787200	Weak transcription	Fetal Intestine Small	intestine
12	chr8:117780400-117787200	Weak transcription	Right Ventricle	heart
13	chr8:117780400-117793200	Weak transcription	Brain Anterior Caudate	brain
14	chr8:117780400-117795200	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr8:117780400-117796000	Weak transcription	Lung	lung
16	chr8:117780400-117798800	Weak transcription	HSMMtube	muscle
17	chr8:117780400-117799800	Weak transcription	Fetal Stomach	stomach
18	chr8:117780400-117830200	Weak transcription	Aorta	Aorta
19	chr8:117780600-117785000	Weak transcription	Fetal Brain Male	brain
20	chr8:117780600-117785600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr8:117780600-117787200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr8:117780600-117793400	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr8:117780600-117796600	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr8:117780600-117800600	Weak transcription	Colon Smooth Muscle	Colon
25	chr8:117780600-117800600	Weak transcription	Psoas Muscle	Psoas
26	chr8:117780600-117800800	Weak transcription	Brain Angular Gyrus	brain
27	chr8:117780600-117800800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr8:117780600-117800800	Weak transcription	Brain Substantia Nigra	brain
29	chr8:117780600-117802200	Weak transcription	Brain Cingulate Gyrus	brain
30	chr8:117781000-117785400	Strong transcription	Fetal Thymus	thymus
31	chr8:117781000-117785800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr8:117781200-117784200	Strong transcription	Primary B cells from peripheral blood	blood
33	chr8:117781200-117785600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr8:117781200-117785600	Strong transcription	Monocytes-CD14+_RO01746	blood
35	chr8:117781400-117784600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr8:117781400-117785400	Strong transcription	Placenta	Placenta
37	chr8:117781400-117785600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr8:117781600-117784000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr8:117781600-117785800	Weak transcription	Pancreas	Pancrea
40	chr8:117781600-117788800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr8:117781600-117792600	Weak transcription	Brain Hippocampus Middle	brain
42	chr8:117781800-117785000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr8:117781800-117785600	Strong transcription	K562	blood
44	chr8:117781800-117785800	Strong transcription	HUES64 Cell Line	embryonic stem cell
45	chr8:117781800-117785800	Strong transcription	Fetal Intestine Large	intestine
46	chr8:117781800-117786600	Strong transcription	Primary hematopoietic stem cells	blood
47	chr8:117781800-117786800	Weak transcription	NHLF	lung
48	chr8:117781800-117787000	Weak transcription	HUVEC	blood vessel
49	chr8:117781800-117793000	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr8:117782000-117784400	Strong transcription	Fetal Lung	lung

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