Variant report

Variant	rs9946282
Chromosome Location	chr18:9818291-9818292
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:9814113..9818318-chr18:9827518..9830876,4	K562	blood:
2	chr18:9681611..9683915-chr18:9818269..9820001,2	K562	blood:
3	chr18:9816447..9818510-chr18:9822454..9825221,3	K562	blood:
4	chr18:9817153..9818836-chr18:9819356..9821453,2	K562	blood:
5	chr18:9816571..9819172-chr18:9874896..9876976,2	K562	blood:

Variant related genes	Relation type
ENSG00000242651	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs28690391	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28694250	1.00[AMR][1000 genomes]
rs29077	1.00[AMR][1000 genomes]
rs58661082	1.00[AMR][1000 genomes]
rs61406561	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73940310	1.00[AMR][1000 genomes]
rs9952670	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9965091	1.00[AMR][1000 genomes]
rs9965096	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	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:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9807600-9824400	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr18:9807800-9832000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr18:9809000-9825000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr18:9809200-9820800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr18:9809200-9824400	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr18:9809200-9824600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr18:9809200-9824800	Weak transcription	Lung	lung
8	chr18:9809200-9825000	Weak transcription	Stomach Mucosa	stomach
9	chr18:9809400-9824400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr18:9809600-9824400	Weak transcription	HMEC	breast
11	chr18:9810000-9823000	Weak transcription	Aorta	Aorta
12	chr18:9810200-9818400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr18:9810200-9824000	Weak transcription	Ovary	ovary
14	chr18:9810600-9823800	Weak transcription	Fetal Stomach	stomach
15	chr18:9810800-9823800	Weak transcription	Brain Cingulate Gyrus	brain
16	chr18:9810800-9823800	Weak transcription	Brain Hippocampus Middle	brain
17	chr18:9810800-9823800	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr18:9811000-9823800	Weak transcription	Colon Smooth Muscle	Colon
19	chr18:9811400-9823800	Weak transcription	Brain Substantia Nigra	brain
20	chr18:9812400-9834600	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr18:9812400-9834800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr18:9813000-9819600	Strong transcription	Primary monocytes fromperipheralblood	blood
23	chr18:9813000-9819800	Strong transcription	Monocytes-CD14+_RO01746	blood
24	chr18:9814800-9823800	Weak transcription	Rectal Smooth Muscle	rectum
25	chr18:9815000-9818400	Strong transcription	Cortex derived primary cultured neurospheres	brain
26	chr18:9815000-9823800	Weak transcription	A549	lung
27	chr18:9815200-9824000	Weak transcription	HSMMtube	muscle
28	chr18:9815200-9824400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr18:9815200-9824400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr18:9815400-9820600	Weak transcription	HUVEC	blood vessel
31	chr18:9815400-9823800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr18:9815800-9818600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr18:9815800-9818600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr18:9816000-9818800	Strong transcription	HSMM	muscle
35	chr18:9816000-9819800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr18:9816200-9818600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr18:9816200-9819200	Strong transcription	NHDF-Ad	bronchial
38	chr18:9816600-9818400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr18:9816800-9823800	Weak transcription	NH-A	brain
40	chr18:9816800-9824200	Weak transcription	Adipose Nuclei	Adipose
41	chr18:9817000-9818600	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr18:9817000-9819400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr18:9817000-9823800	Weak transcription	Placenta	Placenta
44	chr18:9817200-9818800	Strong transcription	Muscle Satellite Cultured Cells	--
45	chr18:9817600-9823800	Weak transcription	Osteobl	bone
46	chr18:9817800-9818600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
47	chr18:9817800-9818600	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr18:9817800-9818800	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr18:9817800-9819000	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr18:9817800-9819600	ZNF genes & repeats	K562	blood

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