Variant report

Variant	rs11873391
Chromosome Location	chr18:12992307-12992308
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:10)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:10 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr18:12989077-12992444	GM12878	blood:	n/a	n/a
2	GATA3	chr18:12992053-12992344	SH-SY5Y	brain:	n/a	n/a
3	POLR2A	chr18:12989656-12992325	U87	brain:	n/a	n/a
4	POLR2A	chr18:12988809-12992393	GM12891	blood:	n/a	n/a
5	POLR2A	chr18:12987789-12992309	HepG2	liver:	n/a	n/a
6	SIN3A	chr18:12990578-12992338	GM12878	blood:	n/a	n/a
7	POLR2A	chr18:12989665-12992592	GM12878	blood:	n/a	n/a
8	SIN3A	chr18:12990269-12992448	H1-hESC	embryonic stem cell:	n/a	n/a
9	MXI1	chr18:12990120-12993129	SK-N-SH	brain:	n/a	n/a
10	MXI1	chr18:12990170-12992489	IMR90	lung:	n/a	n/a

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr18:12701267..12703413-chr18:12991110..12994892,3	K562	blood:
2	chr18:12946883..12949783-chr18:12990489..12993346,5	MCF-7	breast:
3	chr18:12945719..12950670-chr18:12989123..12995651,19	K562	blood:
4	chr18:12701527..12703834-chr18:12990213..12992610,2	K562	blood:
5	chr18:12944429..12952802-chr18:12987284..12998193,21	K562	blood:
6	chr18:12945869..12950267-chr18:12985686..12992743,10	MCF-7	breast:
7	chr18:12375636..12378066-chr18:12991064..12992748,2	K562	blood:
8	chr18:12991401..12992947-chr18:13092444..13094824,2	K562	blood:
9	chr1:26606197..26607867-chr18:12991163..12992861,2	MCF-7	breast:
10	chr18:12701070..12703137-chr18:12990557..12992522,2	MCF-7	breast:
11	chr18:12991897..12993724-chr18:13008945..13010565,2	K562	blood:
12	chr18:12991467..12993717-chr18:13539738..13542100,2	MCF-7	breast:
13	chr18:12990627..12994399-chr18:13026748..13030425,3	K562	blood:
14	chr18:12977796..12979633-chr18:12990126..12992980,2	K562	blood:
15	chr18:12536634..12538194-chr18:12991456..12994159,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000266969	TF binding region
ENSG00000085415	Chromatin interaction
ENSG00000101639	Chromatin interaction
ENSG00000141385	Chromatin interaction
ENSG00000128789	Chromatin interaction
ENSG00000142669	Chromatin interaction
ENSG00000101624	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11876347	0.89[AFR][1000 genomes]
rs11876742	0.89[AFR][1000 genomes]
rs28377612	0.89[AFR][1000 genomes]
rs28613155	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28622491	0.89[AFR][1000 genomes]
rs28735037	0.89[AFR][1000 genomes]
rs28794612	0.89[AFR][1000 genomes]
rs34337672	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58586405	0.89[AFR][1000 genomes]
rs61466343	0.89[AFR][1000 genomes]
rs7227681	0.89[AFR][1000 genomes]
rs7241755	1.00[YRI][hapmap];0.89[AFR][1000 genomes]
rs7244672	0.89[AFR][1000 genomes]
rs8085224	1.00[ASW][hapmap];1.00[LWK][hapmap];0.91[MKK][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8095026	0.89[AFR][1000 genomes]
rs8099005	1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9945683	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9953764	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9959303	0.89[AFR][1000 genomes]
rs9959437	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9963178	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9963273	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9963581	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9966473	0.89[AFR][1000 genomes];1.00[AMR][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	chr18:12989600-12992400	Active TSS	HUES64 Cell Line	embryonic stem cell
2	chr18:12990200-12992600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr18:12990400-12992400	Active TSS	H9 Cell Line	embryonic stem cell
4	chr18:12990400-12992800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr18:12990400-12992800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr18:12990400-12992800	Active TSS	Colonic Mucosa	Colon
7	chr18:12990400-12993000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr18:12990400-12993200	Active TSS	ES-I3 Cell Line	embryonic stem cell
9	chr18:12990400-12993200	Active TSS	A549	lung
10	chr18:12990400-12993200	Active TSS	NHLF	lung
11	chr18:12990600-12992400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr18:12990600-12992400	Active TSS	HUES48 Cell Line	embryonic stem cell
13	chr18:12990600-12992400	Active TSS	HUES6 Cell Line	embryonic stem cell
14	chr18:12990600-12992400	Active TSS	iPS-18 Cell Line	embryonic stem cell
15	chr18:12990600-12992400	Active TSS	Fetal Intestine Small	intestine
16	chr18:12990600-12992400	Active TSS	Fetal Kidney	kidney
17	chr18:12990600-12992400	Active TSS	Fetal Muscle Trunk	muscle
18	chr18:12990600-12992400	Active TSS	Ovary	ovary
19	chr18:12990600-12992400	Active TSS	Right Atrium	heart
20	chr18:12990600-12992400	Active TSS	HSMMtube	muscle
21	chr18:12990600-12992600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
22	chr18:12990600-12992600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
23	chr18:12990600-12992600	Active TSS	Fetal Intestine Large	intestine
24	chr18:12990600-12992600	Active TSS	Psoas Muscle	Psoas
25	chr18:12990600-12992600	Active TSS	Right Ventricle	heart
26	chr18:12990600-12992600	Active TSS	NHDF-Ad	bronchial
27	chr18:12990600-12992800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr18:12990600-12992800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr18:12990600-12992800	Active TSS	K562	blood
30	chr18:12990600-12993000	Active TSS	GM12878-XiMat	blood
31	chr18:12990600-12993200	Active TSS	H1 Cell Line	embryonic stem cell
32	chr18:12990600-12993200	Active TSS	iPS-15b Cell Line	embryonic stem cell
33	chr18:12990600-12993200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr18:12990600-12993400	Active TSS	iPS-20b Cell Line	embryonic stem cell
35	chr18:12990800-12992400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr18:12990800-12992400	Active TSS	Breast Myoepithelial Primary Cells	Breast
37	chr18:12990800-12992400	Active TSS	Placenta	Placenta
38	chr18:12990800-12992400	Active TSS	Fetal Stomach	stomach
39	chr18:12990800-12992400	Active TSS	NHEK	skin
40	chr18:12990800-12992400	Active TSS	Osteobl	bone
41	chr18:12990800-12992600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr18:12990800-12992600	Active TSS	Muscle Satellite Cultured Cells	--
43	chr18:12990800-12992600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr18:12990800-12992600	Active TSS	Stomach Mucosa	stomach
45	chr18:12990800-12992600	Active TSS	Hela-S3	cervix
46	chr18:12990800-12993000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr18:12990800-12994800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr18:12991000-12992400	Active TSS	Brain Germinal Matrix	brain
49	chr18:12991000-12992600	Active TSS	Thymus	Thymus
50	chr18:12991000-12992600	Active TSS	HMEC	breast

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