Variant report

Variant	rs58193967
Chromosome Location	chr18:12491519-12491520
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:12428003..12430631-chr18:12490469..12492690,2	K562	blood:
2	chr18:12487888..12489468-chr18:12491186..12492956,2	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs12455481	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12457760	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12608270	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12958049	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12964631	0.82[EUR][1000 genomes]
rs17615158	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2116004	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs36109961	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs59992891	0.82[EUR][1000 genomes]
rs7234589	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7234742	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8099288	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 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	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
5	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
6	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
7	esv3528039	chr18:12396582-12851293	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
8	esv3528041	chr18:12396641-12851245	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
9	nsv2208	chr18:12472999-12518189	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
10	nsv523743	chr18:12474505-12742809	Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
11	esv2756075	chr18:12481377-12548970	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs58193967	RP11-861E21.2	cis	Thyroid	GTEx

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12460200-12516600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr18:12461400-12495400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr18:12463400-12491800	Weak transcription	Psoas Muscle	Psoas
4	chr18:12465600-12500800	Weak transcription	Fetal Intestine Large	intestine
5	chr18:12472600-12495200	Weak transcription	Colonic Mucosa	Colon
6	chr18:12478400-12512600	Weak transcription	Fetal Intestine Small	intestine
7	chr18:12478600-12496000	Weak transcription	Rectal Smooth Muscle	rectum
8	chr18:12478600-12498400	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr18:12478600-12506400	Weak transcription	Right Ventricle	heart
10	chr18:12478600-12510800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr18:12478800-12491600	Weak transcription	Brain Cingulate Gyrus	brain
12	chr18:12478800-12491600	Weak transcription	Brain Hippocampus Middle	brain
13	chr18:12478800-12491600	Weak transcription	Colon Smooth Muscle	Colon
14	chr18:12478800-12491600	Weak transcription	Esophagus	oesophagus
15	chr18:12478800-12491600	Weak transcription	Fetal Kidney	kidney
16	chr18:12478800-12491600	Weak transcription	Fetal Muscle Trunk	muscle
17	chr18:12478800-12491600	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr18:12478800-12491600	Weak transcription	Spleen	Spleen
19	chr18:12478800-12492000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr18:12478800-12492800	Weak transcription	Fetal Brain Male	brain
21	chr18:12478800-12497400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr18:12478800-12499600	Weak transcription	NHLF	lung
23	chr18:12478800-12504800	Weak transcription	Gastric	stomach
24	chr18:12478800-12505800	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr18:12478800-12514200	Weak transcription	NH-A	brain
26	chr18:12478800-12515800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr18:12478800-12515800	Weak transcription	Placenta	Placenta
28	chr18:12478800-12551800	Weak transcription	Pancreas	Pancrea
29	chr18:12479200-12491600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr18:12479200-12491800	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr18:12479800-12491600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr18:12479800-12491600	Weak transcription	Aorta	Aorta
33	chr18:12479800-12491600	Weak transcription	Lung	lung
34	chr18:12480000-12491600	Weak transcription	Brain Substantia Nigra	brain
35	chr18:12480800-12497200	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr18:12480800-12511000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr18:12481000-12499200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr18:12482000-12491600	Weak transcription	Fetal Heart	heart
39	chr18:12484000-12496200	Strong transcription	HSMM	muscle
40	chr18:12485800-12491600	Weak transcription	HUVEC	blood vessel
41	chr18:12486200-12504600	Weak transcription	HMEC	breast
42	chr18:12488000-12496000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr18:12488400-12496200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr18:12488600-12491600	Weak transcription	HSMMtube	muscle
45	chr18:12490200-12492400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr18:12490200-12503400	Weak transcription	Brain Angular Gyrus	brain
47	chr18:12490400-12496000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr18:12490400-12502800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr18:12490800-12491600	Enhancers	K562	blood
50	chr18:12490800-12492400	Strong transcription	Duodenum Smooth Muscle	Duodenum

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