Variant report

Variant	rs12957571
Chromosome Location	chr18:9644866-9644867
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr18:9612660..9614859-chr18:9643206..9645024,3	MCF-7	breast:
2	chr18:9637061..9640955-chr18:9641542..9645147,4	MCF-7	breast:
3	chr18:9640413..9642046-chr18:9643613..9646688,3	K562	blood:
4	chr18:9643047..9645539-chr18:9651968..9654272,3	MCF-7	breast:
5	chr18:9613070..9618286-chr18:9641748..9647088,7	MCF-7	breast:
6	chr18:9643875..9645659-chr18:9651829..9653489,2	MCF-7	breast:
7	chr18:9643919..9647276-chr18:9653045..9655313,3	K562	blood:
8	chr18:9643273..9646084-chr18:9646208..9649235,5	K562	blood:
9	chr18:9639241..9642046-chr18:9644579..9646156,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000154845	Chromatin interaction
ENSG00000212572	Chromatin interaction
ENSG00000263627	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs12959303	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12960645	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2061136	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2061137	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2061139	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35603721	0.82[EUR][1000 genomes]
rs4384658	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs55818445	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62080347	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3693417	chr18:9512985-9693638	Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	nsv458024	chr18:9558240-9828448	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
3	nsv576448	chr18:9558240-9828448	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
4	nsv576449	chr18:9623052-9700382	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9632400-9647600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr18:9639000-9648000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr18:9639200-9663400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr18:9641600-9645000	Enhancers	HMEC	breast
5	chr18:9641600-9645200	Enhancers	NHDF-Ad	bronchial
6	chr18:9641600-9645200	Enhancers	NHLF	lung
7	chr18:9641800-9645200	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr18:9642600-9647600	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr18:9642800-9645200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr18:9642800-9645200	Enhancers	Fetal Heart	heart
11	chr18:9643200-9645000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr18:9643400-9645000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr18:9643400-9647400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr18:9643400-9649400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr18:9643600-9645000	Enhancers	Muscle Satellite Cultured Cells	--
16	chr18:9643800-9645200	Enhancers	HepG2	liver
17	chr18:9643800-9649800	Weak transcription	Fetal Muscle Leg	muscle
18	chr18:9644000-9645000	Enhancers	NHEK	skin
19	chr18:9644200-9645200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr18:9644400-9645800	Enhancers	A549	lung
21	chr18:9644400-9647600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr18:9644400-9647600	Weak transcription	Hela-S3	cervix
23	chr18:9644400-9647600	Weak transcription	NH-A	brain
24	chr18:9644400-9647800	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr18:9644400-9648800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr18:9644400-9649200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr18:9644400-9649800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr18:9644600-9645200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr18:9644600-9645600	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr18:9644600-9646400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr18:9644600-9647200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr18:9644600-9647800	Weak transcription	HUVEC	blood vessel
33	chr18:9644800-9645000	Enhancers	Fetal Stomach	stomach
34	chr18:9644800-9645200	Enhancers	Placenta	Placenta
35	chr18:9644800-9649400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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