Variant report

Variant	rs35530473
Chromosome Location	chr18:12076440-12076441
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11874561	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11875015	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11875591	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11876891	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12954117	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12959671	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12960683	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12963390	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13381106	0.83[ASN][1000 genomes]
rs17594826	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34013399	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34045099	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34071448	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34652396	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34774742	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35626710	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35640729	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35732188	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4797619	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4797621	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72879124	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8084767	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8086727	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8087542	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8093087	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1055453	chr18:11776790-12110135	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv543654	chr18:11776790-12110135	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
3	nsv909384	chr18:11907374-12101109	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
4	nsv909386	chr18:11938102-12095950	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
5	nsv909388	chr18:11987988-12141372	Bivalent/Poised TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
6	nsv909389	chr18:11987988-12141625	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
7	nsv909390	chr18:11987988-12155371	Active TSS Genic enhancers Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
8	nsv909391	chr18:11989416-12146408	Active TSS Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
9	nsv909392	chr18:11989416-12146698	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
10	nsv909393	chr18:12001258-12155371	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
11	nsv909394	chr18:12017343-12141372	Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
12	nsv1063125	chr18:12046892-12918251	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	130 gene(s)	inside rSNPs	diseases
13	nsv909395	chr18:12057195-12078224	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
14	nsv909396	chr18:12058090-12078224	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
15	nsv909397	chr18:12062004-12083314	Active TSS Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
16	nsv828181	chr18:12065246-12091392	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
17	nsv9608	chr18:12072482-12078283	Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12074600-12077000	Active TSS	Fetal Brain Female	brain
2	chr18:12075400-12076600	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr18:12076200-12076600	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr18:12076200-12076600	Bivalent Enhancer	K562	blood
5	chr18:12076200-12076600	Enhancers	NH-A	brain
6	chr18:12076200-12076800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr18:12076200-12076800	Active TSS	Adipose Nuclei	Adipose
8	chr18:12076200-12076800	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr18:12076200-12077000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr18:12076200-12077000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr18:12076200-12077000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr18:12076200-12077000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr18:12076200-12077000	Active TSS	Fetal Muscle Trunk	muscle
14	chr18:12076200-12077000	Active TSS	Fetal Muscle Leg	muscle
15	chr18:12076200-12077000	Active TSS	Rectal Mucosa Donor 29	rectum
16	chr18:12076200-12077000	Active TSS	Osteobl	bone
17	chr18:12076200-12077200	Active TSS	A549	lung
18	chr18:12076400-12076600	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr18:12076400-12076600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr18:12076400-12076600	Enhancers	Rectal Mucosa Donor 31	rectum
21	chr18:12076400-12076800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr18:12076400-12076800	Active TSS	Muscle Satellite Cultured Cells	--
23	chr18:12076400-12076800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr18:12076400-12076800	Active TSS	Colonic Mucosa	Colon
25	chr18:12076400-12076800	Active TSS	Pancreas	Pancrea
26	chr18:12076400-12076800	Active TSS	Skeletal Muscle Male	skeletal muscle
27	chr18:12076400-12076800	Active TSS	HUVEC	blood vessel
28	chr18:12076400-12077000	Active TSS	H1 Cell Line	embryonic stem cell
29	chr18:12076400-12077000	Active TSS	H9 Cell Line	embryonic stem cell
30	chr18:12076400-12077000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr18:12076400-12077000	Active TSS	HUES48 Cell Line	embryonic stem cell
32	chr18:12076400-12077000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
33	chr18:12076400-12077000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr18:12076400-12077000	Active TSS	Primary hematopoietic stem cells short term culture	blood
35	chr18:12076400-12077000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr18:12076400-12077000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr18:12076400-12077000	Active TSS	Ovary	ovary
38	chr18:12076400-12077000	Active TSS	Psoas Muscle	Psoas
39	chr18:12076400-12077000	Active TSS	Right Atrium	heart
40	chr18:12076400-12077000	Active TSS	Right Ventricle	heart
41	chr18:12076400-12077000	Active TSS	Stomach Smooth Muscle	stomach
42	chr18:12076400-12077000	Active TSS	HepG2	liver
43	chr18:12076400-12077200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr18:12076400-12077200	Active TSS	HUES64 Cell Line	embryonic stem cell
45	chr18:12076400-12077200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell

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