Variant report

Variant	rs73385080
Chromosome Location	chr18:9808341-9808342
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:9613360..9615282-chr18:9806847..9809543,2	MCF-7	breast:
2	chr18:9797300..9799241-chr18:9807609..9810462,2	MCF-7	breast:
3	chr18:9807362..9810899-chr18:9913258..9915893,4	K562	blood:
4	chr18:9807137..9811222-chr18:9917740..9921159,3	K562	blood:

Variant related genes	Relation type
ENSG00000101558	Chromatin interaction
ENSG00000263627	Chromatin interaction
ENSG00000168461	Chromatin interaction
ENSG00000154845	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs12326272	1.00[AMR][1000 genomes]
rs16955672	1.00[ASN][1000 genomes]
rs1893127	1.00[AMR][1000 genomes]
rs73385082	1.00[EUR][1000 genomes];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	nsv458024	chr18:9558240-9828448	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats 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	33 gene(s)	inside rSNPs	diseases
2	nsv576448	chr18:9558240-9828448	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
3	nsv469897	chr18:9674498-9870517	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
4	nsv482461	chr18:9674498-9870517	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
5	nsv909366	chr18:9760942-9827368	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
6	nsv833586	chr18:9783830-9971693	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9783400-9808600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr18:9804200-9816800	Weak transcription	Primary B cells from cord blood	blood
3	chr18:9804400-9808400	Weak transcription	NHLF	lung
4	chr18:9804400-9808600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr18:9804400-9808600	Weak transcription	Psoas Muscle	Psoas
6	chr18:9804600-9808600	Weak transcription	Right Atrium	heart
7	chr18:9804600-9808600	Weak transcription	Right Ventricle	heart
8	chr18:9805000-9808400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr18:9805000-9808400	Weak transcription	Adipose Nuclei	Adipose
10	chr18:9805000-9808400	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr18:9805000-9808600	Weak transcription	Brain Anterior Caudate	brain
12	chr18:9805000-9808600	Weak transcription	Esophagus	oesophagus
13	chr18:9805000-9810200	Strong transcription	Primary monocytes fromperipheralblood	blood
14	chr18:9805200-9808400	Weak transcription	Fetal Heart	heart
15	chr18:9805200-9808600	Weak transcription	Left Ventricle	heart
16	chr18:9805400-9811400	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr18:9805600-9808800	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr18:9805600-9808800	Weak transcription	Spleen	Spleen
19	chr18:9805600-9814600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr18:9806400-9810000	Enhancers	Fetal Muscle Trunk	muscle
21	chr18:9806400-9811400	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr18:9806600-9810400	Enhancers	HSMMtube	muscle
23	chr18:9806800-9816400	Weak transcription	Primary B cells from peripheral blood	blood
24	chr18:9807000-9808400	Enhancers	HSMM	muscle
25	chr18:9807000-9809400	Enhancers	Placenta	Placenta
26	chr18:9807000-9810000	Enhancers	H1 Cell Line	embryonic stem cell
27	chr18:9807000-9810000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr18:9807000-9813000	Enhancers	Fetal Muscle Leg	muscle
29	chr18:9807200-9808600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr18:9807200-9808800	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr18:9807200-9808800	Enhancers	Brain Inferior Temporal Lobe	brain
32	chr18:9807200-9809800	Enhancers	Hela-S3	cervix
33	chr18:9807200-9811400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr18:9807400-9808600	Weak transcription	Lung	lung
35	chr18:9807400-9808600	Enhancers	NHEK	skin
36	chr18:9807400-9809000	Weak transcription	Gastric	stomach
37	chr18:9807400-9809400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr18:9807400-9810800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
39	chr18:9807400-9814000	Weak transcription	Primary neutrophils fromperipheralblood	blood
40	chr18:9807600-9808600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr18:9807600-9808600	Weak transcription	Fetal Brain Male	brain
42	chr18:9807600-9808800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr18:9807600-9808800	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr18:9807600-9811000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr18:9807600-9824400	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr18:9807800-9808600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr18:9807800-9808600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr18:9807800-9808800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr18:9807800-9809200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr18:9807800-9809200	Enhancers	Placenta Amnion	Placenta Amnion

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