Variant report

Variant	rs12605067
Chromosome Location	chr18:12425795-12425796
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:12423760..12426090-chr18:12656515..12659098,3	MCF-7	breast:
2	chr18:12419727..12422689-chr18:12423004..12425928,2	K562	blood:
3	chr18:12407282..12409335-chr18:12423368..12426046,2	MCF-7	breast:
4	chr18:12423021..12425076-chr18:12425258..12426812,2	K562	blood:

Variant related genes	Relation type
ENSG00000215527	Chromatin interaction
ENSG00000128789	Chromatin interaction
ENSG00000134278	Chromatin interaction
ENSG00000141391	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12457016	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12605079	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3760548	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3760550	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3760551	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3760554	0.84[EUR][1000 genomes]
rs45476491	0.88[EUR][1000 genomes]
rs579225	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72875382	0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 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	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
7	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
8	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
9	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
10	nsv909404	chr18:12409955-12438402	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
11	nsv519557	chr18:12417905-12431506	Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
12	esv3351983	chr18:12424102-12427600	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	TF binding region Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
13	nsv130656	chr18:12425482-12426552	Weak transcription ZNF genes & repeats	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12410400-12430400	Weak transcription	A549	lung
2	chr18:12418200-12430400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr18:12420200-12434800	Weak transcription	Stomach Mucosa	stomach
4	chr18:12420400-12426800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr18:12420600-12426600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr18:12420600-12426600	Weak transcription	HSMM	muscle
7	chr18:12420600-12426600	Weak transcription	HSMMtube	muscle
8	chr18:12420600-12426600	Weak transcription	HUVEC	blood vessel
9	chr18:12420600-12426600	Weak transcription	NHEK	skin
10	chr18:12420600-12426800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr18:12420600-12427000	Weak transcription	Fetal Lung	lung
12	chr18:12420600-12427200	Weak transcription	NHDF-Ad	bronchial
13	chr18:12420600-12427800	Weak transcription	HMEC	breast
14	chr18:12420600-12430000	Weak transcription	Pancreas	Pancrea
15	chr18:12420600-12432400	Weak transcription	Left Ventricle	heart
16	chr18:12420600-12432600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr18:12420600-12433600	Weak transcription	Duodenum Mucosa	Duodenum
18	chr18:12420600-12443600	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr18:12420600-12477600	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr18:12420800-12427000	Weak transcription	Aorta	Aorta
21	chr18:12421000-12427200	Weak transcription	Lung	lung
22	chr18:12421200-12426600	Weak transcription	Ovary	ovary
23	chr18:12421200-12426800	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr18:12421200-12429600	Weak transcription	Gastric	stomach
25	chr18:12421200-12429600	Weak transcription	Spleen	Spleen
26	chr18:12421200-12432400	Weak transcription	Esophagus	oesophagus
27	chr18:12421200-12443400	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr18:12421200-12447600	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr18:12421200-12452800	Weak transcription	Colonic Mucosa	Colon
30	chr18:12421400-12426800	Weak transcription	NH-A	brain
31	chr18:12421400-12426800	Weak transcription	Osteobl	bone
32	chr18:12421400-12427000	Weak transcription	Fetal Intestine Large	intestine
33	chr18:12421400-12430800	Weak transcription	Adipose Nuclei	Adipose
34	chr18:12421400-12431200	Weak transcription	Right Ventricle	heart
35	chr18:12421400-12433600	Weak transcription	Placenta	Placenta
36	chr18:12421400-12434600	Weak transcription	Colon Smooth Muscle	Colon
37	chr18:12421400-12444200	Weak transcription	Rectal Smooth Muscle	rectum
38	chr18:12421600-12426600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr18:12421600-12426600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr18:12421600-12426600	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr18:12421600-12426600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr18:12421600-12426600	Weak transcription	Brain Anterior Caudate	brain
43	chr18:12421600-12426600	Weak transcription	Brain Hippocampus Middle	brain
44	chr18:12421600-12426800	Weak transcription	Fetal Kidney	kidney
45	chr18:12421600-12427000	Weak transcription	Brain Substantia Nigra	brain
46	chr18:12421800-12426600	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr18:12421800-12426600	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr18:12421800-12426600	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr18:12421800-12426600	Weak transcription	Brain Germinal Matrix	brain
50	chr18:12421800-12427200	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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