Variant report

Variant	rs4797685
Chromosome Location	chr18:12427544-12427545
allele	A/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	POLR2A	chr18:12427313-12427605	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:12427173..12429276-chr18:12453042..12455618,2	K562	blood:
2	chr18:12422115..12425082-chr18:12427051..12428777,2	K562	blood:

Variant related genes	Relation type
ENSG00000256786	TF binding region
ENSG00000134278	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs12605433	0.95[ASN][1000 genomes]
rs34518007	0.98[ASN][1000 genomes]
rs4797686	0.95[ASN][1000 genomes]
rs571378	0.93[ASN][1000 genomes]
rs61158103	0.95[ASN][1000 genomes]
rs8089169	0.87[ASN][1000 genomes]
rs8089748	0.93[ASN][1000 genomes]

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	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

No data

Chromatin state (count:97 , 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	chr18:12420600-12427800	Weak transcription	HMEC	breast
5	chr18:12420600-12430000	Weak transcription	Pancreas	Pancrea
6	chr18:12420600-12432400	Weak transcription	Left Ventricle	heart
7	chr18:12420600-12432600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr18:12420600-12433600	Weak transcription	Duodenum Mucosa	Duodenum
9	chr18:12420600-12443600	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr18:12420600-12477600	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr18:12421200-12429600	Weak transcription	Gastric	stomach
12	chr18:12421200-12429600	Weak transcription	Spleen	Spleen
13	chr18:12421200-12432400	Weak transcription	Esophagus	oesophagus
14	chr18:12421200-12443400	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr18:12421200-12447600	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr18:12421200-12452800	Weak transcription	Colonic Mucosa	Colon
17	chr18:12421400-12430800	Weak transcription	Adipose Nuclei	Adipose
18	chr18:12421400-12431200	Weak transcription	Right Ventricle	heart
19	chr18:12421400-12433600	Weak transcription	Placenta	Placenta
20	chr18:12421400-12434600	Weak transcription	Colon Smooth Muscle	Colon
21	chr18:12421400-12444200	Weak transcription	Rectal Smooth Muscle	rectum
22	chr18:12421800-12427800	Weak transcription	Fetal Heart	heart
23	chr18:12421800-12428800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr18:12421800-12430400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr18:12421800-12434400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr18:12421800-12442400	Weak transcription	GM12878-XiMat	blood
27	chr18:12422000-12431800	Weak transcription	Fetal Thymus	thymus
28	chr18:12422600-12430400	Weak transcription	K562	blood
29	chr18:12423800-12427800	Weak transcription	Fetal Brain Male	brain
30	chr18:12424000-12430000	Weak transcription	Thymus	Thymus
31	chr18:12426000-12428400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr18:12426000-12428400	ZNF genes & repeats	Fetal Stomach	stomach
33	chr18:12426400-12428400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
34	chr18:12426600-12427600	Strong transcription	H9 Cell Line	embryonic stem cell
35	chr18:12426600-12427600	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr18:12426600-12428000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
37	chr18:12426600-12428200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
38	chr18:12426600-12428200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
39	chr18:12426600-12428200	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr18:12426600-12428200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
41	chr18:12426600-12428200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
42	chr18:12426600-12428200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr18:12426600-12428200	ZNF genes & repeats	Brain Anterior Caudate	brain
44	chr18:12426600-12428200	ZNF genes & repeats	HSMMtube	muscle
45	chr18:12426600-12428400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
46	chr18:12426600-12428400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr18:12426600-12428400	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr18:12426600-12428400	ZNF genes & repeats	Fetal Intestine Small	intestine
49	chr18:12426600-12428400	ZNF genes & repeats	Fetal Muscle Leg	muscle
50	chr18:12426600-12428600	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain

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