Variant report

Variant	rs72938823
Chromosome Location	chr18:8643542-8643543
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:8627643..8629642-chr18:8643038..8645267,2	MCF-7	breast:
2	chr18:8643214..8643842-chr3:64008967..64009508,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000163636	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs321663	1.00[ASN][1000 genomes]
rs399600	1.00[ASN][1000 genomes]
rs55906430	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72936887	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72938803	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72938808	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72938810	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72938812	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	nsv2200	chr18:8618182-8663130	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:8630000-8647400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr18:8630400-8645800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr18:8634800-8647400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr18:8638400-8644200	Weak transcription	Brain Cingulate Gyrus	brain
5	chr18:8638800-8643600	Weak transcription	Rectal Smooth Muscle	rectum
6	chr18:8638800-8653800	Weak transcription	Fetal Heart	heart
7	chr18:8638800-8654200	Weak transcription	A549	lung
8	chr18:8640000-8643600	Weak transcription	Fetal Brain Male	brain
9	chr18:8640200-8644000	Weak transcription	NHDF-Ad	bronchial
10	chr18:8640200-8647400	Weak transcription	HSMMtube	muscle
11	chr18:8640400-8643800	Weak transcription	Brain Angular Gyrus	brain
12	chr18:8640400-8644000	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr18:8640400-8644200	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr18:8640400-8644200	Weak transcription	HepG2	liver
15	chr18:8640400-8644400	Weak transcription	Fetal Kidney	kidney
16	chr18:8640400-8645400	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr18:8640400-8646600	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr18:8640400-8655200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr18:8640600-8643600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr18:8640600-8643600	Weak transcription	Fetal Stomach	stomach
21	chr18:8640600-8644200	Weak transcription	Lung	lung
22	chr18:8640600-8644600	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr18:8640600-8644800	Weak transcription	HSMM	muscle
24	chr18:8640600-8645800	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr18:8640600-8646400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr18:8640600-8657400	Weak transcription	NHLF	lung
27	chr18:8640800-8643800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr18:8640800-8644000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr18:8640800-8644400	Weak transcription	NHEK	skin
30	chr18:8640800-8645000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr18:8640800-8646800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr18:8640800-8650000	Weak transcription	Primary B cells from peripheral blood	blood
33	chr18:8641000-8643800	Weak transcription	Osteobl	bone
34	chr18:8641000-8644400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr18:8641000-8644800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr18:8641000-8645600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr18:8641000-8646800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr18:8641000-8654800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr18:8641400-8644400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr18:8641400-8644800	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr18:8641600-8644200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr18:8641600-8645800	Weak transcription	Fetal Brain Female	brain
43	chr18:8642000-8644400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr18:8642600-8644600	Weak transcription	Primary T cells from cord blood	blood
45	chr18:8642800-8644000	Enhancers	Cortex derived primary cultured neurospheres	brain
46	chr18:8643200-8644000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr18:8643200-8645600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr18:8643200-8646400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr18:8643400-8643600	Enhancers	Duodenum Smooth Muscle	Duodenum
50	chr18:8643400-8643800	Enhancers	Ovary	ovary

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