Variant report

Variant	rs1989451
Chromosome Location	chr18:9072741-9072742
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:9072303..9073987-chr18:9134312..9136561,2	K562	blood:
2	chr18:9072237..9073949-chr18:9102499..9105041,2	MCF-7	breast:
3	chr18:9072455..9076477-chr18:9100981..9105437,5	MCF-7	breast:
4	chr18:9070965..9077648-chr18:9133458..9138143,9	MCF-7	breast:
5	chr18:9072068..9073744-chr18:9148593..9150663,2	MCF-7	breast:
6	chr18:9071071..9073425-chr18:9101134..9103965,2	K562	blood:
7	chr18:9068940..9073336-chr18:9073886..9077279,4	K562	blood:
8	chr18:9070888..9073875-chr18:9135787..9137492,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000178127	Chromatin interaction
ENSG00000101745	Chromatin interaction
ENSG00000265257	Chromatin interaction
ENSG00000266053	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs10163969	0.85[ASN][1000 genomes]
rs72636716	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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
3	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
4	esv1832073	chr18:9048118-9094498	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9066200-9077000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr18:9068800-9074000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr18:9068800-9074000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr18:9069000-9073600	Weak transcription	HMEC	breast
5	chr18:9069200-9073800	Weak transcription	Adipose Nuclei	Adipose
6	chr18:9069400-9073600	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr18:9069400-9073800	Weak transcription	Fetal Intestine Small	intestine
8	chr18:9069800-9073800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr18:9069800-9073800	Weak transcription	Fetal Thymus	thymus
10	chr18:9069800-9074000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr18:9070000-9073000	Weak transcription	Liver	Liver
12	chr18:9070000-9073800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr18:9070000-9073800	Weak transcription	Primary monocytes fromperipheralblood	blood
14	chr18:9070000-9073800	Weak transcription	Colonic Mucosa	Colon
15	chr18:9070000-9073800	Weak transcription	Placenta	Placenta
16	chr18:9070000-9073800	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr18:9070000-9073800	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr18:9070200-9073400	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr18:9070200-9073400	Weak transcription	Stomach Smooth Muscle	stomach
20	chr18:9070200-9073400	Weak transcription	K562	blood
21	chr18:9070200-9073400	Weak transcription	NHDF-Ad	bronchial
22	chr18:9070200-9073600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr18:9070200-9073600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr18:9070200-9073600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr18:9070200-9073600	Weak transcription	Duodenum Mucosa	Duodenum
26	chr18:9070200-9073600	Weak transcription	HSMM	muscle
27	chr18:9070200-9073600	Weak transcription	HSMMtube	muscle
28	chr18:9070200-9073600	Weak transcription	Osteobl	bone
29	chr18:9070200-9073800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr18:9070200-9073800	Weak transcription	Primary hematopoietic stem cells	blood
31	chr18:9070200-9073800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr18:9070200-9073800	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr18:9070200-9073800	Weak transcription	Monocytes-CD14+_RO01746	blood
34	chr18:9070400-9073400	Weak transcription	HepG2	liver
35	chr18:9070400-9073800	Weak transcription	Primary B cells from cord blood	blood
36	chr18:9070400-9073800	Weak transcription	Fetal Muscle Leg	muscle
37	chr18:9070800-9073400	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr18:9071000-9073400	Weak transcription	GM12878-XiMat	blood
39	chr18:9071000-9073600	Weak transcription	Primary B cells from peripheral blood	blood

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