Variant report

Variant	rs13275945
Chromosome Location	chr8:96159053-96159054
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:96128007..96129787-chr8:96157518..96159480,2	MCF-7	breast:
2	chr8:96143487..96148985-chr8:96157131..96160532,6	MCF-7	breast:
3	chr8:96145054..96149642-chr8:96159048..96164326,7	MCF-7	breast:
4	chr8:96158403..96160639-chr8:96166408..96168467,2	K562	blood:
5	chr8:96143887..96147830-chr8:96154836..96159559,5	K562	blood:
6	chr8:96157432..96159557-chr8:96163720..96166408,3	K562	blood:

Variant related genes	Relation type
ENSG00000175895	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10097300	0.81[EUR][1000 genomes]
rs10109868	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10504941	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13250117	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13263827	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13265626	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13278942	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13280952	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62524807	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1017301	chr8:95273503-96248352	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv539680	chr8:95273503-96248352	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv891207	chr8:96106037-96160914	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:96147200-96172000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr8:96147800-96172200	Weak transcription	HSMM	muscle
3	chr8:96148400-96162000	Weak transcription	Lung	lung
4	chr8:96148400-96163600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr8:96148400-96171600	Weak transcription	Fetal Stomach	stomach
6	chr8:96148600-96161600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr8:96149200-96159600	Enhancers	Primary T helper cells PMA-I stimulated	--
8	chr8:96150200-96166600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr8:96150200-96166600	Weak transcription	Fetal Muscle Leg	muscle
10	chr8:96150200-96166600	Weak transcription	Placenta	Placenta
11	chr8:96150400-96161600	Weak transcription	Fetal Heart	heart
12	chr8:96150400-96162000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr8:96150400-96162000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr8:96150400-96166600	Weak transcription	Ovary	ovary
15	chr8:96150400-96169000	Weak transcription	Fetal Kidney	kidney
16	chr8:96150400-96169000	Weak transcription	Stomach Smooth Muscle	stomach
17	chr8:96150400-96179200	Weak transcription	Fetal Lung	lung
18	chr8:96152600-96162000	Weak transcription	Aorta	Aorta
19	chr8:96152600-96162000	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr8:96152600-96162000	Weak transcription	Hela-S3	cervix
21	chr8:96152600-96163000	Weak transcription	Fetal Intestine Large	intestine
22	chr8:96152800-96161800	Weak transcription	Brain Anterior Caudate	brain
23	chr8:96152800-96166400	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr8:96153000-96162800	Weak transcription	Fetal Intestine Small	intestine
25	chr8:96153000-96165400	Weak transcription	Thymus	Thymus
26	chr8:96153000-96166600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr8:96153000-96166600	Weak transcription	Brain Cingulate Gyrus	brain
28	chr8:96153400-96163600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr8:96153600-96163000	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr8:96154000-96160600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr8:96154000-96166400	Weak transcription	Fetal Thymus	thymus
32	chr8:96154800-96162000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr8:96154800-96162000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr8:96154800-96162200	Weak transcription	Adipose Nuclei	Adipose
35	chr8:96154800-96166400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr8:96154800-96166600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr8:96154800-96166600	Weak transcription	Gastric	stomach
38	chr8:96155200-96166600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr8:96155600-96166400	Weak transcription	Primary T cells fromperipheralblood	blood
40	chr8:96156000-96162000	Weak transcription	Duodenum Mucosa	Duodenum
41	chr8:96156200-96162200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr8:96156200-96162800	Weak transcription	Colon Smooth Muscle	Colon
43	chr8:96156400-96160600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr8:96156600-96159800	Weak transcription	NHEK	skin
45	chr8:96156600-96162200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr8:96156600-96163200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr8:96157000-96162000	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr8:96157400-96160800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
49	chr8:96157400-96163000	Enhancers	Pancreatic Islets	Pancreatic Islet
50	chr8:96157600-96160800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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