Variant report

Variant	rs542471480
Chromosome Location	chr18:12448503-12448504
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:12431522..12433489-chr18:12448330..12450426,2	MCF-7	breast:
2	chr18:12448427..12450836-chr18:12453121..12454748,2	K562	blood:

Variant related genes	Relation type
ENSG00000267108	Chromatin interaction
ENSG00000256786	Chromatin interaction
ENSG00000134278	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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	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	nsv960254	chr18:12448017-12448517	Strong transcription Weak transcription	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12420600-12477600	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr18:12421200-12452800	Weak transcription	Colonic Mucosa	Colon
3	chr18:12431000-12449200	Weak transcription	Pancreas	Pancrea
4	chr18:12433000-12448800	Weak transcription	HUVEC	blood vessel
5	chr18:12433200-12449200	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr18:12433200-12449200	Weak transcription	Gastric	stomach
7	chr18:12433200-12449200	Weak transcription	Spleen	Spleen
8	chr18:12433200-12450200	Weak transcription	Thymus	Thymus
9	chr18:12433200-12464600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr18:12433400-12458600	Weak transcription	HepG2	liver
11	chr18:12434200-12477000	Weak transcription	Esophagus	oesophagus
12	chr18:12435200-12449000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr18:12438200-12449200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr18:12439200-12448800	Weak transcription	NHLF	lung
15	chr18:12439400-12468200	Weak transcription	K562	blood
16	chr18:12441600-12452200	Weak transcription	Hela-S3	cervix
17	chr18:12442000-12459200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr18:12443200-12457400	Strong transcription	HSMM	muscle
19	chr18:12443600-12454600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr18:12444000-12449000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr18:12444000-12460200	Weak transcription	Fetal Intestine Large	intestine
22	chr18:12444000-12467400	Weak transcription	A549	lung
23	chr18:12444200-12463200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr18:12444400-12453400	Weak transcription	Small Intestine	intestine
25	chr18:12444400-12458600	Weak transcription	Fetal Heart	heart
26	chr18:12444400-12465800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr18:12444600-12449000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr18:12444600-12449000	Weak transcription	Brain Anterior Caudate	brain
29	chr18:12444600-12449200	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr18:12444600-12450200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr18:12444600-12455800	Weak transcription	Fetal Kidney	kidney
32	chr18:12444600-12457600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr18:12444600-12459400	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr18:12444600-12477600	Weak transcription	Rectal Smooth Muscle	rectum
35	chr18:12444800-12449000	Weak transcription	Right Ventricle	heart
36	chr18:12444800-12450400	Strong transcription	Fetal Muscle Trunk	muscle
37	chr18:12444800-12450800	Strong transcription	Fetal Brain Female	brain
38	chr18:12445000-12450000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr18:12445000-12454800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
40	chr18:12445600-12448800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr18:12445600-12448800	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr18:12445600-12448800	Weak transcription	Brain Angular Gyrus	brain
43	chr18:12445600-12449000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr18:12445600-12459200	Weak transcription	Fetal Intestine Small	intestine
45	chr18:12445600-12460800	Weak transcription	Primary hematopoietic stem cells	blood
46	chr18:12445800-12448600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr18:12445800-12448800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr18:12445800-12448800	Weak transcription	Liver	Liver
49	chr18:12445800-12448800	Weak transcription	Lung	lung
50	chr18:12445800-12448800	Weak transcription	Osteobl	bone

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