Variant report

Variant	rs28421034
Chromosome Location	chr18:9494227-9494228
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:9474140..9476697-chr18:9492130..9496293,4	MCF-7	breast:
2	chr18:9483756..9486081-chr18:9493514..9495477,2	K562	blood:
3	chr18:9473406..9476796-chr18:9492556..9495953,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000017797	Chromatin interaction
ENSG00000273335	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11872337	1.00[AMR][1000 genomes]
rs11873574	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11877029	1.00[AMR][1000 genomes]
rs28448446	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28558090	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28576116	1.00[AMR][1000 genomes]
rs9949585	1.00[AMR][1000 genomes]
rs9952572	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9952938	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9956337	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9957025	1.00[AMR][1000 genomes]
rs9960613	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9963842	1.00[AMR][1000 genomes]
rs9966133	1.00[AFR][1000 genomes];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	nsv916373	chr18:9026803-9592201	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv1056407	chr18:9144345-9553764	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	nsv1062025	chr18:9287249-9552470	Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv543643	chr18:9287249-9552470	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	nsv833585	chr18:9401630-9597291	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
6	nsv428005	chr18:9401658-9542396	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9476800-9496000	Weak transcription	Stomach Mucosa	stomach
2	chr18:9477000-9514000	Weak transcription	NH-A	brain
3	chr18:9477200-9513800	Weak transcription	HSMM	muscle
4	chr18:9477600-9494400	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr18:9477800-9494800	Weak transcription	HMEC	breast
6	chr18:9477800-9501800	Weak transcription	NHDF-Ad	bronchial
7	chr18:9477800-9503200	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr18:9478000-9503400	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr18:9478000-9508400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr18:9478000-9522400	Weak transcription	Hela-S3	cervix
11	chr18:9479000-9496800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr18:9479000-9500200	Weak transcription	Fetal Muscle Trunk	muscle
13	chr18:9479000-9514000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr18:9479000-9533200	Weak transcription	Aorta	Aorta
15	chr18:9479000-9533600	Weak transcription	Gastric	stomach
16	chr18:9479400-9494600	Weak transcription	Thymus	Thymus
17	chr18:9480200-9513800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr18:9481600-9494400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr18:9482800-9495000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr18:9483000-9494400	Weak transcription	Right Ventricle	heart
21	chr18:9483000-9513800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr18:9483200-9494800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr18:9483200-9495000	Weak transcription	Primary T cells from cord blood	blood
24	chr18:9483400-9498000	Weak transcription	Dnd41	blood
25	chr18:9484000-9494800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr18:9485200-9494800	Weak transcription	Liver	Liver
27	chr18:9489200-9500400	Weak transcription	Primary B cells from cord blood	blood
28	chr18:9490200-9495000	Weak transcription	HUVEC	blood vessel
29	chr18:9490800-9495000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr18:9491000-9494800	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr18:9491400-9495800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr18:9492400-9501400	Weak transcription	Fetal Thymus	thymus
33	chr18:9492600-9494800	Weak transcription	NHEK	skin
34	chr18:9492600-9497400	Weak transcription	Fetal Intestine Large	intestine
35	chr18:9492600-9499000	Weak transcription	Fetal Intestine Small	intestine
36	chr18:9492600-9514000	Weak transcription	Rectal Smooth Muscle	rectum
37	chr18:9492800-9503400	Weak transcription	A549	lung
38	chr18:9493000-9494600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr18:9493000-9494800	Weak transcription	Primary hematopoietic stem cells	blood
40	chr18:9493000-9494800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr18:9493000-9494800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr18:9493000-9495600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr18:9493000-9495600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr18:9493000-9495600	Weak transcription	Fetal Muscle Leg	muscle
45	chr18:9493000-9499400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr18:9493000-9500800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr18:9493200-9495000	Enhancers	Primary T cells fromperipheralblood	blood
48	chr18:9493600-9494600	Enhancers	Monocytes-CD14+_RO01746	blood
49	chr18:9493600-9495000	Enhancers	iPS-18 Cell Line	embryonic stem cell
50	chr18:9493600-9495200	Enhancers	iPS-20b Cell Line	embryonic stem cell

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