Variant report

Variant	rs17334340
Chromosome Location	chr8:48876129-48876130
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:48873884..48879338-chr8:48885468..48891171,6	MCF-7	breast:
2	chr8:48870843..48877121-chr8:48919292..48922738,10	K562	blood:

Variant related genes	Relation type
ENSG00000104738	Chromatin interaction
ENSG00000169139	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs2040359	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58352423	1.00[AMR][1000 genomes]
rs7001539	0.83[AMR][1000 genomes]
rs8178060	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs8178217	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021389	chr8:48700970-48880931	Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv539599	chr8:48700970-48880931	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv931032	chr8:48744329-49091359	Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	esv2758156	chr8:48788293-49008014	Strong transcription Active TSS Genic enhancers Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	esv2759611	chr8:48788293-49008014	Strong transcription Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
6	nsv427820	chr8:48788293-49008014	Strong transcription Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
7	nsv831309	chr8:48815290-48977856	Strong transcription Genic enhancers Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
8	nsv1033760	chr8:48852925-48961374	Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
9	nsv1020619	chr8:48871586-48932988	Genic enhancers Active TSS Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:48874000-48876400	Transcr. at gene 5' and 3'	Dnd41	blood
2	chr8:48874200-48876200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr8:48874200-48877800	Weak transcription	Aorta	Aorta
4	chr8:48874400-48877200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr8:48874400-48877200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr8:48874400-48877200	Weak transcription	Stomach Smooth Muscle	stomach
7	chr8:48874400-48877400	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr8:48874400-48877600	Weak transcription	Brain Hippocampus Middle	brain
9	chr8:48874400-48877600	Weak transcription	Pancreas	Pancrea
10	chr8:48874400-48877800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr8:48874400-48877800	Weak transcription	Ovary	ovary
12	chr8:48874400-48878000	Weak transcription	Colonic Mucosa	Colon
13	chr8:48874400-48878000	Weak transcription	Psoas Muscle	Psoas
14	chr8:48874400-48878600	Weak transcription	HSMMtube	muscle
15	chr8:48874400-48881600	Weak transcription	Right Atrium	heart
16	chr8:48874400-48888800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr8:48874600-48877000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr8:48874600-48877000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr8:48874600-48877000	Weak transcription	Monocytes-CD14+_RO01746	blood
20	chr8:48874600-48877200	Weak transcription	Brain Angular Gyrus	brain
21	chr8:48874600-48877200	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr8:48874600-48877600	Weak transcription	Primary monocytes fromperipheralblood	blood
23	chr8:48874600-48877800	Weak transcription	Primary B cells from cord blood	blood
24	chr8:48874600-48878000	Weak transcription	Brain Substantia Nigra	brain
25	chr8:48874600-48878200	Weak transcription	Primary B cells from peripheral blood	blood
26	chr8:48874600-48879600	Weak transcription	Rectal Smooth Muscle	rectum
27	chr8:48874600-48888800	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr8:48874600-48891600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr8:48874600-48891800	Weak transcription	Colon Smooth Muscle	Colon
30	chr8:48874800-48876800	Weak transcription	Adipose Nuclei	Adipose
31	chr8:48874800-48877000	Weak transcription	Primary T helper cells fromperipheralblood	blood
32	chr8:48874800-48877200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr8:48874800-48877200	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr8:48874800-48877600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr8:48874800-48877600	Weak transcription	Lung	lung
36	chr8:48874800-48877600	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr8:48874800-48877600	Weak transcription	Thymus	Thymus
38	chr8:48874800-48877800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr8:48874800-48877800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr8:48874800-48877800	Weak transcription	Primary neutrophils fromperipheralblood	blood
41	chr8:48874800-48877800	Weak transcription	Brain Cingulate Gyrus	brain
42	chr8:48874800-48877800	Weak transcription	Duodenum Mucosa	Duodenum
43	chr8:48874800-48877800	Weak transcription	Esophagus	oesophagus
44	chr8:48874800-48877800	Weak transcription	Fetal Brain Female	brain
45	chr8:48874800-48877800	Weak transcription	Gastric	stomach
46	chr8:48874800-48877800	Weak transcription	Right Ventricle	heart
47	chr8:48874800-48877800	Weak transcription	Spleen	Spleen
48	chr8:48874800-48878000	Weak transcription	Primary T cells from cord blood	blood
49	chr8:48874800-48878000	Weak transcription	Primary T cells fromperipheralblood	blood
50	chr8:48874800-48878200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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