Variant report

Variant	rs16952991
Chromosome Location	chr18:8176639-8176640
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	chr18:8175161..8177762-chr3:171759970..171761579,2	MCF-7	breast:

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

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

rs_ID	r²[population]
rs16952985	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61474526	1.00[AMR][1000 genomes]
rs7236550	1.00[AMR][1000 genomes]
rs7244866	1.00[AMR][1000 genomes]
rs73389777	1.00[AMR][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	nsv534374	chr18:7438812-8412546	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers 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
2	nsv458018	chr18:8110805-8645907	Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv576426	chr18:8110805-8645907	Weak transcription ZNF genes & repeats Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv458020	chr18:8161470-8183260	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv576427	chr18:8161470-8183260	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv909360	chr18:8167050-8207445	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:8159000-8177400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr18:8163000-8177400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr18:8163200-8177800	Weak transcription	Lung	lung
4	chr18:8168000-8177400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr18:8170800-8225400	Weak transcription	Aorta	Aorta
6	chr18:8173800-8177600	Enhancers	Brain Germinal Matrix	brain
7	chr18:8174000-8179200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr18:8174400-8177800	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr18:8174400-8178200	Enhancers	Colon Smooth Muscle	Colon
10	chr18:8174600-8178200	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr18:8174800-8177200	Enhancers	Brain Angular Gyrus	brain
12	chr18:8174800-8177800	Enhancers	Fetal Heart	heart
13	chr18:8174800-8177800	Enhancers	Skeletal Muscle Female	skeletal muscle
14	chr18:8174800-8178000	Enhancers	Brain Cingulate Gyrus	brain
15	chr18:8174800-8178000	Enhancers	Duodenum Smooth Muscle	Duodenum
16	chr18:8174800-8178000	Enhancers	Stomach Smooth Muscle	stomach
17	chr18:8174800-8178200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr18:8174800-8178200	Enhancers	Brain Hippocampus Middle	brain
19	chr18:8174800-8178200	Enhancers	Rectal Smooth Muscle	rectum
20	chr18:8174800-8178200	Enhancers	Skeletal Muscle Male	skeletal muscle
21	chr18:8174800-8178600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr18:8175000-8176800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr18:8175000-8178400	Enhancers	Fetal Kidney	kidney
24	chr18:8175000-8195000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr18:8175200-8176800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr18:8175400-8177000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr18:8175400-8178000	Enhancers	Right Ventricle	heart
28	chr18:8175600-8176800	Enhancers	Right Atrium	heart
29	chr18:8175600-8177000	Enhancers	Fetal Lung	lung
30	chr18:8175600-8177600	Enhancers	Brain Inferior Temporal Lobe	brain
31	chr18:8175600-8177800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr18:8175600-8178000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr18:8175600-8178000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
34	chr18:8175600-8178000	Enhancers	Ovary	ovary
35	chr18:8175600-8178000	Enhancers	HMEC	breast
36	chr18:8175600-8178200	Enhancers	Adipose Nuclei	Adipose
37	chr18:8175600-8178400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
38	chr18:8175800-8176800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr18:8175800-8178000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr18:8175800-8178000	Enhancers	Fetal Stomach	stomach
41	chr18:8175800-8178000	Enhancers	A549	lung
42	chr18:8175800-8178200	Enhancers	Brain Anterior Caudate	brain
43	chr18:8175800-8178400	Enhancers	Hela-S3	cervix
44	chr18:8175800-8178400	Enhancers	HepG2	liver
45	chr18:8176000-8177000	Enhancers	iPS-18 Cell Line	embryonic stem cell
46	chr18:8176000-8177400	Weak transcription	Fetal Muscle Leg	muscle
47	chr18:8176200-8176800	Enhancers	HSMM	muscle
48	chr18:8176200-8177200	Enhancers	HUES6 Cell Line	embryonic stem cell
49	chr18:8176200-8177600	Enhancers	HSMMtube	muscle
50	chr18:8176200-8177800	Enhancers	iPS-20b Cell Line	embryonic stem cell

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