Variant report

Variant	rs573342548
Chromosome Location	chr18:12418884-12418885
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr18:12418321-12419091	HepG2	liver:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr18:12406749..12409861-chr18:12418820..12421803,8	MCF-7	breast:
2	chr18:12407594..12413164-chr18:12414407..12422412,12	MCF-7	breast:
3	chr18:12418519..12420831-chr18:12657213..12660140,3	MCF-7	breast:
4	chr18:12418687..12420720-chr18:12430201..12431737,2	MCF-7	breast:
5	chr18:12375743..12378274-chr18:12418543..12422031,3	MCF-7	breast:

No data

Variant related genes	Relation type
SLMO1	TF binding region
ENSG00000128789	Chromatin interaction
ENSG00000134278	Chromatin interaction
ENSG00000141391	Chromatin interaction
ENSG00000215527	Chromatin interaction
ENSG00000141385	Chromatin interaction
ENSG00000256786	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 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

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12408600-12419600	Weak transcription	Thymus	Thymus
2	chr18:12408800-12419800	Weak transcription	Primary hematopoietic stem cells	blood
3	chr18:12408800-12419800	Weak transcription	Pancreas	Pancrea
4	chr18:12409000-12419600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr18:12409000-12419800	Weak transcription	Colonic Mucosa	Colon
6	chr18:12409000-12419800	Weak transcription	Duodenum Mucosa	Duodenum
7	chr18:12409000-12419800	Weak transcription	Fetal Kidney	kidney
8	chr18:12409000-12419800	Weak transcription	Fetal Thymus	thymus
9	chr18:12409800-12419800	Weak transcription	Rectal Smooth Muscle	rectum
10	chr18:12410200-12419800	Weak transcription	NH-A	brain
11	chr18:12410400-12419800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr18:12410400-12419800	Weak transcription	Right Ventricle	heart
13	chr18:12410400-12430400	Weak transcription	A549	lung
14	chr18:12411800-12419800	Weak transcription	NHEK	skin
15	chr18:12414400-12419600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr18:12416000-12419600	Weak transcription	Monocytes-CD14+_RO01746	blood
17	chr18:12416000-12419800	Weak transcription	Esophagus	oesophagus
18	chr18:12416000-12419800	Weak transcription	Stomach Mucosa	stomach
19	chr18:12416000-12419800	Weak transcription	NHLF	lung
20	chr18:12416000-12420000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr18:12416200-12419800	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr18:12416200-12419800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr18:12416200-12419800	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr18:12416200-12419800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr18:12416200-12419800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr18:12416200-12419800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr18:12416200-12419800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr18:12416200-12419800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr18:12416200-12419800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr18:12416200-12419800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr18:12416200-12419800	Weak transcription	Fetal Intestine Small	intestine
32	chr18:12416200-12419800	Weak transcription	Ovary	ovary
33	chr18:12416200-12419800	Weak transcription	Right Atrium	heart
34	chr18:12416200-12420000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
35	chr18:12416200-12420000	Weak transcription	Aorta	Aorta
36	chr18:12416200-12420000	Weak transcription	Fetal Heart	heart
37	chr18:12416200-12420000	Weak transcription	Left Ventricle	heart
38	chr18:12416200-12420000	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr18:12416200-12420000	Weak transcription	Spleen	Spleen
40	chr18:12416400-12419800	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr18:12416400-12419800	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr18:12416400-12419800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr18:12416400-12419800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr18:12416400-12419800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr18:12416400-12419800	Weak transcription	Adipose Nuclei	Adipose
46	chr18:12416400-12419800	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr18:12416400-12419800	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr18:12416400-12419800	Weak transcription	Stomach Smooth Muscle	stomach
49	chr18:12416400-12419800	Weak transcription	HUVEC	blood vessel
50	chr18:12416400-12419800	Weak transcription	Osteobl	bone

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