Variant report

Variant	rs13269995
Chromosome Location	chr8:125858762-125858763
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr20:52481454..52483306-chr8:125857851..125859697,2	MCF-7	breast:
2	chr8:125826280..125829250-chr8:125858154..125859848,3	K562	blood:
3	chr8:125853231..125854920-chr8:125856486..125859426,2	MCF-7	breast:
4	chr8:125826310..125829048-chr8:125858256..125860186,2	K562	blood:

Variant related genes	Relation type
ENSG00000255491	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs28812857	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs4870929	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs4870930	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs4871557	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs4871559	0.81[AMR][1000 genomes]
rs6470291	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs6990879	0.81[AFR][1000 genomes]
rs7459652	0.83[AMR][1000 genomes]
rs7463657	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs9987227	0.91[AFR][1000 genomes];0.83[AMR][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	nsv891434	chr8:125630655-126324432	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125847400-125860600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr8:125855400-125859200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr8:125855400-125859200	Weak transcription	Esophagus	oesophagus
4	chr8:125855400-125859200	Weak transcription	NH-A	brain
5	chr8:125855400-125860000	Weak transcription	Brain Germinal Matrix	brain
6	chr8:125855400-125860400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr8:125855600-125858800	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr8:125855600-125859000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr8:125855600-125859000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr8:125855600-125859000	Weak transcription	Spleen	Spleen
11	chr8:125855600-125859200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr8:125855600-125859200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr8:125855600-125859200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr8:125855600-125859200	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr8:125855600-125860400	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr8:125855600-125860800	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr8:125855600-125860800	Weak transcription	Brain Angular Gyrus	brain
18	chr8:125855600-125861000	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr8:125855600-125861000	Weak transcription	Stomach Mucosa	stomach
20	chr8:125855800-125858800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr8:125855800-125858800	Weak transcription	HSMM	muscle
22	chr8:125855800-125858800	Weak transcription	HSMMtube	muscle
23	chr8:125855800-125858800	Weak transcription	NHLF	lung
24	chr8:125855800-125859000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr8:125855800-125859000	Weak transcription	Osteobl	bone
26	chr8:125855800-125859200	Weak transcription	Adipose Nuclei	Adipose
27	chr8:125855800-125859200	Weak transcription	Pancreas	Pancrea
28	chr8:125855800-125859200	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr8:125855800-125859200	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr8:125855800-125859800	Weak transcription	Fetal Intestine Small	intestine
31	chr8:125855800-125860000	Weak transcription	Fetal Intestine Large	intestine
32	chr8:125855800-125860200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr8:125855800-125860200	Weak transcription	Brain Hippocampus Middle	brain
34	chr8:125855800-125860400	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr8:125855800-125860400	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr8:125855800-125860400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr8:125855800-125860400	Weak transcription	Brain Anterior Caudate	brain
38	chr8:125855800-125861000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr8:125855800-125861200	Weak transcription	Psoas Muscle	Psoas
40	chr8:125856000-125859200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr8:125856200-125859200	Weak transcription	Fetal Muscle Trunk	muscle
42	chr8:125856400-125858800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr8:125856400-125858800	Weak transcription	Fetal Muscle Leg	muscle
44	chr8:125856600-125859200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr8:125857000-125859200	Weak transcription	Right Atrium	heart
46	chr8:125857600-125859200	Enhancers	Fetal Heart	heart
47	chr8:125858000-125859800	Enhancers	NHEK	skin
48	chr8:125858000-125860400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr8:125858000-125860600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr8:125858000-125861400	Enhancers	NHDF-Ad	bronchial

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