Variant report

Variant	rs28418978
Chromosome Location	chr18:9265182-9265183
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	chr18:9258135..9261280-chr18:9262408..9265307,3	K562	blood:
2	chr18:9258105..9261280-chr18:9261761..9265772,3	K562	blood:

Variant related genes	Relation type
ENSG00000273284	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs12150725	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12958093	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17413793	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1893198	0.94[ASN][1000 genomes]
rs2155707	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34310409	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34452937	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4131992	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4797361	0.90[ASN][1000 genomes]
rs4798782	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4798784	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4798786	0.91[ASN][1000 genomes]
rs4798788	0.82[ASN][1000 genomes]
rs4798791	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6506649	0.95[ASN][1000 genomes]
rs7228251	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7232337	0.94[ASN][1000 genomes]
rs7506008	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7506291	0.88[ASN][1000 genomes]
rs8089693	0.91[ASN][1000 genomes]
rs8097848	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs894755	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9304033	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9304034	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9304036	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9944905	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9946468	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9946475	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9946695	0.90[ASN][1000 genomes]
rs9946852	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9948560	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9959998	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9960129	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	nsv431971	chr18:9081185-9326852	Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	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
4	nsv1055696	chr18:9191679-9309805	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
5	nsv458023	chr18:9240413-9357786	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv576447	chr18:9240413-9357786	ZNF genes & repeats Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
7	nsv2201	chr18:9247631-9279825	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9192200-9284000	Weak transcription	NHEK	skin
2	chr18:9216000-9289600	Weak transcription	HMEC	breast
3	chr18:9232800-9273000	Weak transcription	Fetal Kidney	kidney
4	chr18:9233400-9265800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr18:9234400-9280400	Weak transcription	Psoas Muscle	Psoas
6	chr18:9234600-9278000	Weak transcription	Brain Angular Gyrus	brain
7	chr18:9234800-9290000	Weak transcription	NHLF	lung
8	chr18:9235000-9285400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr18:9235400-9270800	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr18:9240600-9275800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr18:9240800-9279800	Weak transcription	Colon Smooth Muscle	Colon
12	chr18:9243600-9278000	Weak transcription	Brain Cingulate Gyrus	brain
13	chr18:9243600-9283000	Weak transcription	Brain Substantia Nigra	brain
14	chr18:9245000-9271000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr18:9254800-9280000	Weak transcription	Hela-S3	cervix
16	chr18:9255000-9281400	Weak transcription	HUVEC	blood vessel
17	chr18:9255000-9282600	Weak transcription	A549	lung
18	chr18:9255200-9275600	Weak transcription	NH-A	brain
19	chr18:9257000-9277800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr18:9258600-9279000	Weak transcription	Fetal Brain Male	brain
21	chr18:9259000-9265200	Weak transcription	Fetal Thymus	thymus
22	chr18:9260200-9285600	Weak transcription	Small Intestine	intestine
23	chr18:9260400-9265600	Strong transcription	Cortex derived primary cultured neurospheres	brain
24	chr18:9261400-9283400	Weak transcription	Fetal Heart	heart
25	chr18:9261800-9265800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr18:9261800-9266000	Strong transcription	Muscle Satellite Cultured Cells	--
27	chr18:9262200-9265600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
28	chr18:9262400-9265600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr18:9262800-9276400	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr18:9263000-9265800	Strong transcription	Ovary	ovary
31	chr18:9263200-9265600	Strong transcription	Primary T helper cells PMA-I stimulated	--
32	chr18:9263400-9265600	Strong transcription	Adipose Nuclei	Adipose
33	chr18:9263400-9265800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr18:9263400-9265800	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr18:9263600-9265800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr18:9263800-9265600	Strong transcription	Rectal Mucosa Donor 31	rectum
37	chr18:9263800-9265800	Strong transcription	Primary T helper cells fromperipheralblood	blood
38	chr18:9263800-9265800	Strong transcription	HSMMtube	muscle
39	chr18:9264000-9265200	Strong transcription	Monocytes-CD14+_RO01746	blood
40	chr18:9264000-9265600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr18:9264000-9265800	Strong transcription	Primary T cells fromperipheralblood	blood
42	chr18:9264000-9265800	Strong transcription	Fetal Lung	lung
43	chr18:9264000-9265800	Strong transcription	Placenta	Placenta
44	chr18:9264000-9266000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr18:9264200-9265200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
46	chr18:9264200-9265200	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
47	chr18:9264200-9265200	Strong transcription	Fetal Muscle Leg	muscle
48	chr18:9264200-9265600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr18:9264200-9265600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr18:9264200-9265600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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