Variant report

Variant	rs550392328
Chromosome Location	chr18:12421337-12421338
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:12418998..12421842-chr18:12658407..12660489,3	MCF-7	breast:
2	chr18:12406749..12409861-chr18:12418820..12421803,8	MCF-7	breast:
3	chr18:12407594..12413164-chr18:12414407..12422412,12	MCF-7	breast:
4	chr18:12421209..12423248-chr18:12437108..12438890,2	MCF-7	breast:
5	chr18:12375743..12378274-chr18:12418543..12422031,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000141391	Chromatin interaction
ENSG00000141385	Chromatin interaction
ENSG00000128789	Chromatin interaction
ENSG00000267199	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:15 , 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	nsv9610	chr18:12417586-12424527	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
12	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
13	esv3338945	chr18:12419177-12422125	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
14	esv3428897	chr18:12419827-12421825	Genic enhancers Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
15	esv3436965	chr18:12420352-12421500	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

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	chr18:12419800-12421400	Active TSS	HUES48 Cell Line	embryonic stem cell
4	chr18:12419800-12421400	Active TSS	iPS-15b Cell Line	embryonic stem cell
5	chr18:12419800-12421400	Active TSS	iPS-20b Cell Line	embryonic stem cell
6	chr18:12419800-12421400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr18:12419800-12421400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr18:12419800-12421400	Active TSS	Fetal Intestine Small	intestine
9	chr18:12419800-12421400	Active TSS	NH-A	brain
10	chr18:12419800-12421600	Active TSS	H9 Cell Line	embryonic stem cell
11	chr18:12420000-12421400	Active TSS	ES-I3 Cell Line	embryonic stem cell
12	chr18:12420000-12421400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr18:12420200-12421400	Active TSS	Osteobl	bone
14	chr18:12420200-12434800	Weak transcription	Stomach Mucosa	stomach
15	chr18:12420400-12421400	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr18:12420400-12421400	Enhancers	Placenta	Placenta
17	chr18:12420400-12426800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr18:12420600-12421400	Enhancers	Primary B cells from cord blood	blood
19	chr18:12420600-12421400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
20	chr18:12420600-12421400	Enhancers	Primary T helper cells PMA-I stimulated	--
21	chr18:12420600-12421400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
22	chr18:12420600-12422600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr18:12420600-12423000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr18:12420600-12423600	Weak transcription	Hela-S3	cervix
25	chr18:12420600-12424000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr18:12420600-12426600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr18:12420600-12426600	Weak transcription	HSMM	muscle
28	chr18:12420600-12426600	Weak transcription	HSMMtube	muscle
29	chr18:12420600-12426600	Weak transcription	HUVEC	blood vessel
30	chr18:12420600-12426600	Weak transcription	NHEK	skin
31	chr18:12420600-12426800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr18:12420600-12427000	Weak transcription	Fetal Lung	lung
33	chr18:12420600-12427200	Weak transcription	NHDF-Ad	bronchial
34	chr18:12420600-12427800	Weak transcription	HMEC	breast
35	chr18:12420600-12430000	Weak transcription	Pancreas	Pancrea
36	chr18:12420600-12432400	Weak transcription	Left Ventricle	heart
37	chr18:12420600-12432600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr18:12420600-12433600	Weak transcription	Duodenum Mucosa	Duodenum
39	chr18:12420600-12443600	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr18:12420600-12477600	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr18:12420800-12421400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr18:12420800-12421400	Enhancers	Colon Smooth Muscle	Colon
43	chr18:12420800-12421400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
44	chr18:12420800-12421400	Flanking Active TSS	Fetal Intestine Large	intestine
45	chr18:12420800-12421400	Flanking Active TSS	Fetal Muscle Trunk	muscle
46	chr18:12420800-12421400	Flanking Active TSS	Fetal Muscle Leg	muscle
47	chr18:12420800-12421400	Flanking Active TSS	Fetal Stomach	stomach
48	chr18:12420800-12421400	Flanking Active TSS	Fetal Thymus	thymus
49	chr18:12420800-12421400	Flanking Active TSS	Stomach Smooth Muscle	stomach
50	chr18:12420800-12421400	Genic enhancers	NHLF	lung

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