Variant report

Variant	rs12957034
Chromosome Location	chr18:8827732-8827733
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:8814066..8816178-chr18:8827038..8829489,2	MCF-7	breast:
2	chr18:8827151..8829025-chr18:8829102..8831478,2	K562	blood:
3	chr18:8827382..8829668-chr18:8830158..8832451,3	K562	blood:

Variant related genes	Relation type
ENSG00000168502	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10432143	0.92[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs11081410	1.00[CHB][hapmap];0.89[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12956170	1.00[CHB][hapmap];0.89[JPT][hapmap];1.00[ASN][1000 genomes]
rs12956773	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12962890	0.89[JPT][hapmap]
rs1564484	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2170297	1.00[CHB][hapmap];0.88[JPT][hapmap];0.95[ASN][1000 genomes]
rs2242273	1.00[CHB][hapmap];0.88[JPT][hapmap];0.95[ASN][1000 genomes]
rs34740257	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35950206	0.92[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs4798757	1.00[YRI][hapmap]
rs595802	0.90[CHB][hapmap];0.88[JPT][hapmap]
rs71362044	0.81[ASN][1000 genomes]
rs7233770	1.00[CHB][hapmap];0.88[JPT][hapmap];0.95[ASN][1000 genomes]
rs7240816	1.00[CHB][hapmap];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064883	chr18:8709670-9133224	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv833584	chr18:8728616-8904213	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv909363	chr18:8775184-8858086	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:8789400-8829800	Weak transcription	Brain Anterior Caudate	brain
2	chr18:8801200-8828200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr18:8801200-8834800	Weak transcription	Esophagus	oesophagus
4	chr18:8802400-8830000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr18:8805400-8829200	Strong transcription	Cortex derived primary cultured neurospheres	brain
6	chr18:8806200-8828600	Weak transcription	Lung	lung
7	chr18:8807800-8835200	Weak transcription	Right Ventricle	heart
8	chr18:8811400-8828800	Weak transcription	Primary B cells from peripheral blood	blood
9	chr18:8813800-8828600	Weak transcription	Adipose Nuclei	Adipose
10	chr18:8817000-8828000	Strong transcription	NHLF	lung
11	chr18:8817000-8830400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr18:8817200-8828200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr18:8817200-8828600	Strong transcription	NHDF-Ad	bronchial
14	chr18:8817200-8834800	Weak transcription	Psoas Muscle	Psoas
15	chr18:8817400-8828000	Strong transcription	HSMM	muscle
16	chr18:8817800-8830800	Strong transcription	Fetal Stomach	stomach
17	chr18:8819800-8828800	Weak transcription	Brain Substantia Nigra	brain
18	chr18:8821400-8830000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr18:8821400-8831600	Weak transcription	Aorta	Aorta
20	chr18:8821400-8834600	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr18:8821600-8828200	Weak transcription	Hela-S3	cervix
22	chr18:8821600-8834800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr18:8821800-8828600	Strong transcription	A549	lung
24	chr18:8822000-8829400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr18:8822400-8836800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr18:8822800-8827800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr18:8822800-8827800	Strong transcription	Brain Germinal Matrix	brain
28	chr18:8823200-8831800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr18:8824200-8828200	Weak transcription	Fetal Heart	heart
30	chr18:8824400-8828800	Weak transcription	Spleen	Spleen
31	chr18:8825000-8828600	Weak transcription	Right Atrium	heart
32	chr18:8825400-8828000	Weak transcription	Rectal Smooth Muscle	rectum
33	chr18:8825400-8828800	Weak transcription	Brain Cingulate Gyrus	brain
34	chr18:8825400-8829800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr18:8825400-8831600	Weak transcription	Ovary	ovary
36	chr18:8825600-8834000	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr18:8825600-8835200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr18:8825800-8830400	Weak transcription	HMEC	breast
39	chr18:8825800-8833200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr18:8825800-8835000	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr18:8826000-8827800	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr18:8826000-8828200	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr18:8826000-8829000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr18:8826000-8833400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr18:8826200-8828000	Weak transcription	Brain Hippocampus Middle	brain
46	chr18:8826200-8828000	Weak transcription	Fetal Muscle Trunk	muscle
47	chr18:8826200-8830000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
48	chr18:8826200-8835000	Weak transcription	Placenta	Placenta
49	chr18:8826200-8839600	Weak transcription	Brain Angular Gyrus	brain
50	chr18:8826400-8828000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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