Variant report

Variant	rs56005633
Chromosome Location	chr18:12993356-12993357
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	WRNIP1	chr18:12993104-12993679	GM12878	blood:	n/a	n/a
2	CTCF	chr18:12993280-12993430	AG09309	skin:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr18:12701267..12703413-chr18:12991110..12994892,3	K562	blood:
2	chr18:12989490..12992525-chr18:12992706..12997077,5	MCF-7	breast:
3	chr18:12945719..12950670-chr18:12989123..12995651,19	K562	blood:
4	chr18:12944429..12952802-chr18:12987284..12998193,21	K562	blood:
5	chr18:12991897..12993724-chr18:13008945..13010565,2	K562	blood:
6	chr18:12991467..12993717-chr18:13539738..13542100,2	MCF-7	breast:
7	chr18:12990627..12994399-chr18:13026748..13030425,3	K562	blood:
8	chr18:12536634..12538194-chr18:12991456..12994159,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000266969	TF binding region
ENSG00000266969	Chromatin interaction
ENSG00000128789	Chromatin interaction
ENSG00000101624	Chromatin interaction
ENSG00000101639	Chromatin interaction
ENSG00000085415	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11080619	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11663300	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16940002	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56171834	0.96[ASN][1000 genomes]
rs58910186	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66484417	0.86[EUR][1000 genomes]
rs7232135	0.96[ASN][1000 genomes]
rs7244871	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72874147	0.87[EUR][1000 genomes]
rs8087936	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8089189	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9946408	0.88[EUR][1000 genomes]
rs9947799	0.86[EUR][1000 genomes]
rs9949475	0.88[EUR][1000 genomes]
rs9949532	0.88[EUR][1000 genomes]
rs9957933	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062014	chr18:12687210-13183383	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
2	nsv543655	chr18:12687210-13183383	Flanking Bivalent TSS/Enh Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
3	nsv1057083	chr18:12916779-13207538	Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
4	nsv576524	chr18:12918318-13183609	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
5	nsv1056593	chr18:12926314-13183383	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
6	nsv1064364	chr18:12926314-13207686	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
7	nsv1062413	chr18:12988947-13039941	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
8	nsv543657	chr18:12988947-13039941	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12990600-12993400	Active TSS	iPS-20b Cell Line	embryonic stem cell
2	chr18:12990800-12994800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr18:12991800-12993400	Weak transcription	Spleen	Spleen
4	chr18:12992000-12993600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr18:12992000-13000600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr18:12992000-13004400	Weak transcription	Esophagus	oesophagus
7	chr18:12992200-12993400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr18:12992200-12993400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr18:12992200-12993400	Flanking Active TSS	Dnd41	blood
10	chr18:12992200-12993600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
11	chr18:12992200-12993600	Enhancers	Fetal Brain Male	brain
12	chr18:12992200-13004800	Weak transcription	Aorta	Aorta
13	chr18:12992400-12993400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr18:12992400-12993400	Enhancers	Brain Angular Gyrus	brain
15	chr18:12992400-12993400	Enhancers	Brain Inferior Temporal Lobe	brain
16	chr18:12992400-12993400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr18:12992400-12993400	Enhancers	Skeletal Muscle Male	skeletal muscle
18	chr18:12992400-12993800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr18:12992400-12993800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
20	chr18:12992400-12993800	Enhancers	Ovary	ovary
21	chr18:12992400-12993800	Enhancers	Sigmoid Colon	Sigmoid Colon
22	chr18:12992400-12994200	Enhancers	Primary B cells from peripheral blood	blood
23	chr18:12992400-12994600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
24	chr18:12992400-13000400	Weak transcription	Fetal Muscle Trunk	muscle
25	chr18:12992400-13000600	Weak transcription	Placenta	Placenta
26	chr18:12992400-13004400	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr18:12992600-12993400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
28	chr18:12992600-12993400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr18:12992600-12993400	Enhancers	Liver	Liver
30	chr18:12992600-12993400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
31	chr18:12992600-12993400	Enhancers	Fetal Lung	lung
32	chr18:12992600-12993400	Active TSS	Rectal Mucosa Donor 29	rectum
33	chr18:12992600-12993400	Enhancers	Stomach Mucosa	stomach
34	chr18:12992600-12993600	Enhancers	Fetal Intestine Small	intestine
35	chr18:12992600-12993800	Enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr18:12992600-12993800	Enhancers	Primary neutrophils fromperipheralblood	blood
37	chr18:12992600-12993800	Enhancers	Primary T cells fromperipheralblood	blood
38	chr18:12992600-12993800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
39	chr18:12992600-12993800	Enhancers	Primary T killer memory cells from peripheral blood	blood
40	chr18:12992600-12993800	Enhancers	Right Ventricle	heart
41	chr18:12992600-12993800	Enhancers	Small Intestine	intestine
42	chr18:12992600-12993800	Flanking Active TSS	Hela-S3	cervix
43	chr18:12992600-12994000	Enhancers	Colon Smooth Muscle	Colon
44	chr18:12992600-12994600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr18:12992600-12994800	Enhancers	Primary T helper naive cells from peripheral blood	blood
46	chr18:12992600-12994800	Enhancers	Primary T helper cells fromperipheralblood	blood
47	chr18:12992600-13000400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr18:12992600-13031200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
49	chr18:12992800-12993400	Enhancers	Primary hematopoietic stem cells	blood
50	chr18:12992800-12993400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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