Variant report

Variant	rs72941944
Chromosome Location	chr18:9375843-9375844
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:9374497..9377043-chr18:9445590..9447450,2	K562	blood:
2	chr18:9375540..9377830-chr18:9382841..9384543,2	MCF-7	breast:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs61067716	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62087470	0.91[ASN][1000 genomes]
rs62087474	0.83[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs62087475	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62087477	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62087495	0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62087497	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	nsv909365	chr18:9299538-9400422	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9341200-9391400	Weak transcription	Liver	Liver
2	chr18:9341200-9403800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr18:9344400-9404200	Weak transcription	Primary T cells from cord blood	blood
4	chr18:9345600-9377600	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr18:9354400-9380400	Weak transcription	NHLF	lung
6	chr18:9360400-9403000	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr18:9361800-9380200	Weak transcription	Small Intestine	intestine
8	chr18:9362000-9380400	Weak transcription	Brain Cingulate Gyrus	brain
9	chr18:9362400-9380000	Weak transcription	Brain Germinal Matrix	brain
10	chr18:9363200-9380200	Weak transcription	Rectal Smooth Muscle	rectum
11	chr18:9364800-9409400	Weak transcription	Aorta	Aorta
12	chr18:9366600-9379800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr18:9366600-9380000	Weak transcription	Brain Angular Gyrus	brain
14	chr18:9366600-9380000	Weak transcription	Colon Smooth Muscle	Colon
15	chr18:9366600-9380200	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr18:9366600-9380200	Weak transcription	Brain Anterior Caudate	brain
17	chr18:9366600-9380200	Weak transcription	Ovary	ovary
18	chr18:9366600-9380200	Weak transcription	HSMMtube	muscle
19	chr18:9366600-9380600	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr18:9366600-9381000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr18:9366600-9389400	Weak transcription	HSMM	muscle
22	chr18:9366600-9390600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr18:9366600-9390800	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr18:9366600-9396200	Weak transcription	NH-A	brain
25	chr18:9366600-9406000	Weak transcription	Esophagus	oesophagus
26	chr18:9366800-9390600	Weak transcription	HUVEC	blood vessel
27	chr18:9366800-9397000	Weak transcription	NHEK	skin
28	chr18:9367800-9377800	Weak transcription	Fetal Intestine Large	intestine
29	chr18:9367800-9378000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr18:9367800-9379200	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr18:9367800-9380600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr18:9367800-9385400	Weak transcription	Lung	lung
33	chr18:9367800-9390800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr18:9367800-9395600	Weak transcription	Left Ventricle	heart
35	chr18:9368200-9378800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr18:9368200-9380000	Weak transcription	Brain Hippocampus Middle	brain
37	chr18:9368200-9380000	Weak transcription	NHDF-Ad	bronchial
38	chr18:9368200-9380400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr18:9368200-9380400	Weak transcription	Stomach Smooth Muscle	stomach
40	chr18:9368200-9389400	Weak transcription	GM12878-XiMat	blood
41	chr18:9368200-9390400	Weak transcription	Primary hematopoietic stem cells	blood
42	chr18:9368200-9390600	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr18:9368400-9380000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr18:9368400-9381000	Weak transcription	Fetal Muscle Leg	muscle
45	chr18:9368400-9397200	Weak transcription	Placenta	Placenta
46	chr18:9368600-9381200	Weak transcription	Fetal Kidney	kidney
47	chr18:9368600-9389400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr18:9368600-9390200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr18:9368600-9390400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr18:9368600-9390400	Weak transcription	Fetal Muscle Trunk	muscle

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