Variant report

Variant	rs58670524
Chromosome Location	chr18:12320534-12320535
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:12320304..12322638-chr18:12766672..12769392,2	K562	blood:
2	chr18:12312290..12313035-chr18:12320340..12321330,2	K562	blood:
3	chr18:12320474..12322943-chr18:12328685..12331399,2	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs28552823	1.00[EUR][1000 genomes]
rs28662344	1.00[EUR][1000 genomes]
rs544731	1.00[EUR][1000 genomes]
rs556661	1.00[EUR][1000 genomes]
rs559719	1.00[EUR][1000 genomes]
rs56079355	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57692322	1.00[EUR][1000 genomes]
rs58875261	1.00[EUR][1000 genomes]
rs7228939	1.00[EUR][1000 genomes]
rs73401973	1.00[EUR][1000 genomes]
rs73413050	1.00[EUR][1000 genomes]
rs8093092	1.00[EUR][1000 genomes]
rs8098094	1.00[EUR][1000 genomes]
rs9948060	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv491873	chr18:12159445-12739784	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
3	nsv909400	chr18:12201374-12585545	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
4	nsv909402	chr18:12211483-12325222	Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
5	nsv909403	chr18:12231060-12325222	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
6	nsv1061545	chr18:12235999-12328405	Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
7	esv2758471	chr18:12240681-12499525	Flanking Active TSS Strong transcription ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
8	esv2758714	chr18:12240681-12499525	Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
9	nsv576496	chr18:12247872-12490502	Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
10	nsv1060808	chr18:12302792-12514417	Genic enhancers Weak transcription Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12310000-12324800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr18:12310000-12325800	Weak transcription	Fetal Kidney	kidney
3	chr18:12310200-12324800	Weak transcription	HepG2	liver
4	chr18:12310600-12322800	Strong transcription	Placenta Amnion	Placenta Amnion
5	chr18:12311000-12323200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr18:12311000-12324800	Weak transcription	Spleen	Spleen
7	chr18:12312600-12325000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr18:12312600-12332600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr18:12312800-12324800	Weak transcription	Colonic Mucosa	Colon
10	chr18:12312800-12324800	Weak transcription	Fetal Brain Female	brain
11	chr18:12313000-12320800	Weak transcription	Fetal Intestine Small	intestine
12	chr18:12314000-12333600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr18:12314200-12323000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr18:12314200-12327800	Strong transcription	HUES6 Cell Line	embryonic stem cell
15	chr18:12314400-12342600	Weak transcription	Small Intestine	intestine
16	chr18:12314600-12324400	Weak transcription	Brain Germinal Matrix	brain
17	chr18:12314800-12320600	Weak transcription	Fetal Intestine Large	intestine
18	chr18:12315600-12324800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr18:12316200-12320600	Weak transcription	Brain Substantia Nigra	brain
20	chr18:12316200-12324600	Weak transcription	Gastric	stomach
21	chr18:12316200-12325000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr18:12316400-12320600	Weak transcription	Brain Anterior Caudate	brain
23	chr18:12316400-12323000	Weak transcription	Fetal Lung	lung
24	chr18:12316400-12333600	Weak transcription	Fetal Brain Male	brain
25	chr18:12316600-12324400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr18:12316600-12324800	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr18:12316600-12327000	Weak transcription	Stomach Mucosa	stomach
28	chr18:12316800-12320600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr18:12316800-12321600	Strong transcription	NHEK	skin
30	chr18:12316800-12327600	Strong transcription	HUVEC	blood vessel
31	chr18:12317600-12324800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr18:12317800-12322200	Strong transcription	NH-A	brain
33	chr18:12318000-12321000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr18:12318000-12321200	Strong transcription	HSMM	muscle
35	chr18:12318000-12325000	Weak transcription	Hela-S3	cervix
36	chr18:12318000-12331200	Strong transcription	HMEC	breast
37	chr18:12318400-12320600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr18:12318400-12320800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr18:12318400-12321200	Strong transcription	Muscle Satellite Cultured Cells	--
40	chr18:12318400-12321400	Weak transcription	Pancreas	Pancrea
41	chr18:12318400-12324800	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr18:12318400-12334800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr18:12318600-12320600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
44	chr18:12318600-12320600	Weak transcription	Brain Hippocampus Middle	brain
45	chr18:12318600-12320600	Weak transcription	GM12878-XiMat	blood
46	chr18:12318600-12320600	Weak transcription	Monocytes-CD14+_RO01746	blood
47	chr18:12318600-12320800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr18:12318600-12320800	Strong transcription	NHDF-Ad	bronchial
49	chr18:12318600-12321000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr18:12318600-12321000	Weak transcription	Rectal Mucosa Donor 31	rectum

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