Variant report

Variant	rs570892611
Chromosome Location	chr18:12417769-12417770
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FAM48A	chr18:12417673-12417802	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:12407594..12413164-chr18:12414407..12422412,12	MCF-7	breast:

Variant related genes	Relation type
SLMO1	TF binding region
ENSG00000141391	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

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	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

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	chr18:12408800-12417800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr18:12408800-12419800	Weak transcription	Primary hematopoietic stem cells	blood
4	chr18:12408800-12419800	Weak transcription	Pancreas	Pancrea
5	chr18:12409000-12419600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr18:12409000-12419800	Weak transcription	Colonic Mucosa	Colon
7	chr18:12409000-12419800	Weak transcription	Duodenum Mucosa	Duodenum
8	chr18:12409000-12419800	Weak transcription	Fetal Kidney	kidney
9	chr18:12409000-12419800	Weak transcription	Fetal Thymus	thymus
10	chr18:12409200-12418400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr18:12409800-12418000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr18:12409800-12419800	Weak transcription	Rectal Smooth Muscle	rectum
13	chr18:12410200-12419800	Weak transcription	NH-A	brain
14	chr18:12410400-12419800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr18:12410400-12419800	Weak transcription	Right Ventricle	heart
16	chr18:12410400-12430400	Weak transcription	A549	lung
17	chr18:12411800-12419800	Weak transcription	NHEK	skin
18	chr18:12414400-12419600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr18:12416000-12419600	Weak transcription	Monocytes-CD14+_RO01746	blood
20	chr18:12416000-12419800	Weak transcription	Esophagus	oesophagus
21	chr18:12416000-12419800	Weak transcription	Stomach Mucosa	stomach
22	chr18:12416000-12419800	Weak transcription	NHLF	lung
23	chr18:12416000-12420000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr18:12416200-12417800	Weak transcription	Fetal Lung	lung
25	chr18:12416200-12418400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr18:12416200-12418400	Weak transcription	GM12878-XiMat	blood
27	chr18:12416200-12419800	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr18:12416200-12419800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr18:12416200-12419800	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr18:12416200-12419800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr18:12416200-12419800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr18:12416200-12419800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr18:12416200-12419800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr18:12416200-12419800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr18:12416200-12419800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr18:12416200-12419800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr18:12416200-12419800	Weak transcription	Fetal Intestine Small	intestine
38	chr18:12416200-12419800	Weak transcription	Ovary	ovary
39	chr18:12416200-12419800	Weak transcription	Right Atrium	heart
40	chr18:12416200-12420000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
41	chr18:12416200-12420000	Weak transcription	Aorta	Aorta
42	chr18:12416200-12420000	Weak transcription	Fetal Heart	heart
43	chr18:12416200-12420000	Weak transcription	Left Ventricle	heart
44	chr18:12416200-12420000	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr18:12416200-12420000	Weak transcription	Spleen	Spleen
46	chr18:12416400-12418400	Weak transcription	Fetal Brain Male	brain
47	chr18:12416400-12419800	Weak transcription	HUES48 Cell Line	embryonic stem cell
48	chr18:12416400-12419800	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr18:12416400-12419800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr18:12416400-12419800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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