Variant report

Variant	rs2325823
Chromosome Location	chr8:119043320-119043321
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:119041694..119043358-chr8:119123015..119125384,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000182197	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs2451169	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030459	chr8:118840179-119155835	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv831440	chr8:118871930-119052269	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv612047	chr8:118939094-119468609	Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv1015380	chr8:118948652-119418389	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	nsv539736	chr8:118948652-119418389	Flanking Active TSS Active TSS Weak transcription Genic enhancers Enhancers Strong transcription 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
6	nsv1025002	chr8:118970940-119069418	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:119035000-119044600	Enhancers	Liver	Liver
2	chr8:119035600-119044200	Enhancers	HepG2	liver
3	chr8:119036600-119046600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr8:119037200-119046600	Weak transcription	Brain Hippocampus Middle	brain
5	chr8:119037600-119046600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr8:119037600-119046600	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr8:119038200-119046600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr8:119038400-119046400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr8:119038400-119046600	Weak transcription	Spleen	Spleen
10	chr8:119038400-119046800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr8:119038600-119044000	Weak transcription	Fetal Kidney	kidney
12	chr8:119038800-119046400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr8:119039200-119046400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr8:119039200-119046600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr8:119039200-119046800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr8:119039200-119046800	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr8:119039200-119049000	Weak transcription	HUVEC	blood vessel
18	chr8:119040000-119045800	Weak transcription	Psoas Muscle	Psoas
19	chr8:119040000-119046600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr8:119040000-119046600	Weak transcription	Stomach Smooth Muscle	stomach
21	chr8:119040400-119046600	Weak transcription	Fetal Heart	heart
22	chr8:119040600-119044000	Weak transcription	Right Atrium	heart
23	chr8:119040600-119044600	Enhancers	Duodenum Mucosa	Duodenum
24	chr8:119040600-119052600	Weak transcription	Left Ventricle	heart
25	chr8:119041200-119043600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr8:119041200-119045000	Enhancers	Rectal Mucosa Donor 31	rectum
27	chr8:119041200-119046800	Enhancers	Osteobl	bone
28	chr8:119041400-119043400	Enhancers	Ovary	ovary
29	chr8:119041400-119044000	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr8:119041400-119044400	Enhancers	Fetal Lung	lung
31	chr8:119041400-119046800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr8:119041400-119049800	Enhancers	NHDF-Ad	bronchial
33	chr8:119041600-119044200	Enhancers	HSMMtube	muscle
34	chr8:119041600-119044600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr8:119041600-119044600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr8:119041600-119044800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr8:119041600-119044800	Enhancers	Fetal Intestine Small	intestine
38	chr8:119041600-119045800	Enhancers	Muscle Satellite Cultured Cells	--
39	chr8:119041800-119043400	Enhancers	Sigmoid Colon	Sigmoid Colon
40	chr8:119041800-119043800	Enhancers	Gastric	stomach
41	chr8:119041800-119043800	Enhancers	Hela-S3	cervix
42	chr8:119041800-119044400	Enhancers	Stomach Mucosa	stomach
43	chr8:119041800-119044600	Enhancers	HSMM	muscle
44	chr8:119041800-119044600	Enhancers	NHLF	lung
45	chr8:119041800-119044800	Enhancers	Fetal Intestine Large	intestine
46	chr8:119041800-119049800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr8:119042000-119043400	Enhancers	Colon Smooth Muscle	Colon
48	chr8:119042000-119045400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr8:119042200-119044000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr8:119042200-119046800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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