Variant report

Variant	rs4796969
Chromosome Location	chr18:12907339-12907340
allele	C/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:6)
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	ZMIZ1	chr18:12907150-12907419	K562	blood:	n/a	n/a
2	BHLHE40	chr18:12907333-12907513	K562	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr18:12905939..12908311-chr18:12943241..12946202,2	K562	blood:
2	chr18:12902756..12905734-chr18:12905891..12908920,3	K562	blood:
3	chr18:12906281..12908025-chr18:12908440..12911989,3	MCF-7	breast:
4	chr18:12882774..12886006-chr18:12907131..12909300,4	K562	blood:
5	chr18:12883263..12885486-chr18:12905006..12907871,2	MCF-7	breast:
6	chr18:12871381..12873022-chr18:12906708..12908955,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000267570	TF binding region
ENSG00000175354	Chromatin interaction
ENSG00000267570	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11080611	0.87[CEU][hapmap];0.85[JPT][hapmap];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12607415	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1983424	0.86[JPT][hapmap]
rs3848468	0.94[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs3915012	0.94[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs4797714	0.87[ASN][1000 genomes]
rs4797716	0.80[AMR][1000 genomes]
rs7242253	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs8090365	0.85[JPT][hapmap]
rs8094285	0.86[JPT][hapmap]
rs9958611	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9962435	0.86[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 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	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
3	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
4	nsv1064844	chr18:12748045-12953235	Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	68 gene(s)	inside rSNPs	diseases
5	nsv543656	chr18:12748045-12953235	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	68 gene(s)	inside rSNPs	diseases
6	nsv909407	chr18:12877060-12917703	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12904200-12908600	Weak transcription	Left Ventricle	heart
2	chr18:12904400-12911200	Weak transcription	Spleen	Spleen
3	chr18:12904600-12907400	Weak transcription	Hela-S3	cervix
4	chr18:12904600-12910000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr18:12905800-12907400	Enhancers	Lung	lung
6	chr18:12906200-12907400	Enhancers	Placenta	Placenta
7	chr18:12906200-12909200	Enhancers	Fetal Thymus	thymus
8	chr18:12906400-12907400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
9	chr18:12906400-12909000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr18:12906600-12907400	Enhancers	Ovary	ovary
11	chr18:12906600-12907600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr18:12906600-12907600	Bivalent Enhancer	Fetal Stomach	stomach
13	chr18:12906800-12907400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr18:12906800-12907400	Bivalent Enhancer	Fetal Muscle Leg	muscle
15	chr18:12906800-12907400	Flanking Bivalent TSS/Enh	HepG2	liver
16	chr18:12906800-12907400	Enhancers	NHDF-Ad	bronchial
17	chr18:12906800-12907600	Enhancers	Aorta	Aorta
18	chr18:12906800-12908000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr18:12906800-12908200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
20	chr18:12906800-12908200	Enhancers	Right Atrium	heart
21	chr18:12906800-12908400	Enhancers	Fetal Lung	lung
22	chr18:12906800-12911000	Weak transcription	Right Ventricle	heart
23	chr18:12907000-12907400	Enhancers	HUVEC	blood vessel
24	chr18:12907000-12907600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
25	chr18:12907000-12907800	Flanking Active TSS	NH-A	brain
26	chr18:12907000-12911000	Weak transcription	Gastric	stomach
27	chr18:12907200-12907400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr18:12907200-12907600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr18:12907200-12907600	Enhancers	K562	blood
30	chr18:12907200-12907600	Enhancers	NHLF	lung
31	chr18:12907200-12907600	Flanking Active TSS	Osteobl	bone
32	chr18:12907200-12907800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr18:12907200-12907800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr18:12907200-12907800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin

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