Variant report

Variant	rs16954628
Chromosome Location	chr18:8982732-8982733
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:8696875..8697446-chr18:8982094..8983073,4	K562	blood:
2	chr18:8654266..8655510-chr18:8982017..8983163,6	MCF-7	breast:
3	chr18:8696401..8697392-chr18:8982092..8982978,4	MCF-7	breast:
4	chr18:8696480..8697369-chr18:8982260..8982960,6	MCF-7	breast:
5	chr18:8882273..8883176-chr18:8982192..8983084,3	K562	blood:
6	chr18:8981074..8983974-chr18:9054070..9056499,2	MCF-7	breast:

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs72942739	0.84[AMR][1000 genomes]
rs9948418	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9959249	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064883	chr18:8709670-9133224	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv870110	chr18:8958418-9075363	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:8978200-8983000	Enhancers	Colon Smooth Muscle	Colon
2	chr18:8978800-8983200	Enhancers	A549	lung
3	chr18:8978800-8984600	Enhancers	Rectal Smooth Muscle	rectum
4	chr18:8980600-8983600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr18:8980800-8983400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr18:8981200-8982800	Weak transcription	Placenta	Placenta
7	chr18:8981200-8987000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr18:8981400-8982800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr18:8981400-8982800	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr18:8981400-8982800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr18:8981400-8982800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr18:8981400-8982800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr18:8981400-8982800	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr18:8981400-8988000	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr18:8981600-8982800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr18:8981600-8982800	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr18:8981800-8982800	Enhancers	K562	blood
18	chr18:8981800-8982800	Enhancers	NHEK	skin
19	chr18:8981800-8983000	Enhancers	Primary B cells from peripheral blood	blood
20	chr18:8982000-8982800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr18:8982000-8983200	Enhancers	Placenta Amnion	Placenta Amnion
22	chr18:8982000-8983800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr18:8982000-8984600	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr18:8982000-8984600	Enhancers	HMEC	breast
25	chr18:8982200-8982800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr18:8982200-8982800	Enhancers	Fetal Thymus	thymus
27	chr18:8982200-8983000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr18:8982200-8983200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr18:8982200-8983200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr18:8982200-8983800	Enhancers	Fetal Muscle Leg	muscle
31	chr18:8982200-8984800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr18:8982400-8982800	Enhancers	Stomach Mucosa	stomach
33	chr18:8982400-8982800	Enhancers	Stomach Smooth Muscle	stomach
34	chr18:8982400-8983000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr18:8982400-8983200	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr18:8982400-8983200	Enhancers	NH-A	brain
37	chr18:8982400-8983400	Enhancers	Fetal Kidney	kidney
38	chr18:8982400-8983400	Enhancers	Osteobl	bone
39	chr18:8982400-8983600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr18:8982400-8983600	Enhancers	NHLF	lung
41	chr18:8982400-8983800	Enhancers	Fetal Stomach	stomach
42	chr18:8982400-8984600	Enhancers	NHDF-Ad	bronchial
43	chr18:8982600-8983000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
44	chr18:8982600-8983000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr18:8982600-8983000	Flanking Active TSS	HepG2	liver
46	chr18:8982600-8983200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
47	chr18:8982600-8983200	Enhancers	HSMM	muscle

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