Variant report

Variant	rs12742185
Chromosome Location	chr1:151468289-151468290
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:151467596..151470891-chr1:151470893..151474724,4	MCF-7	breast:
2	chr1:151465693..151469281-chr1:151809820..151814205,4	MCF-7	breast:
3	chr1:151467989..151469567-chr1:151479920..151481677,2	MCF-7	breast:
4	1:151411623-151426875..1:151468043-151473267	Hela-S3	cervix:
5	chr1:151430347..151433120-chr1:151465110..151469553,7	MCF-7	breast:
6	chr1:151463912..151470062-chr1:151482602..151487656,8	MCF-7	breast:
7	chr1:151436059..151438699-chr1:151467400..151469749,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000143375	Chromatin interaction
ENSG00000143442	Chromatin interaction
ENSG00000225556	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs12123091	1.00[AFR][1000 genomes]
rs12124363	1.00[AFR][1000 genomes]
rs41270706	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916272	chr1:150961809-151557253	Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	219 gene(s)	inside rSNPs	diseases
2	nsv831581	chr1:151289151-151478605	Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151465000-151471000	Weak transcription	K562	blood
2	chr1:151466400-151468400	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr1:151466400-151468400	Enhancers	Fetal Intestine Small	intestine
4	chr1:151466600-151468600	Enhancers	Fetal Intestine Large	intestine
5	chr1:151467000-151468400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr1:151467000-151468400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr1:151467000-151468400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr1:151467000-151468400	Enhancers	Muscle Satellite Cultured Cells	--
9	chr1:151467000-151468600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr1:151467000-151468600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr1:151467000-151468600	Enhancers	Brain Substantia Nigra	brain
12	chr1:151467000-151468600	Enhancers	HUVEC	blood vessel
13	chr1:151467000-151468800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr1:151467000-151468800	Enhancers	Brain Inferior Temporal Lobe	brain
15	chr1:151467200-151468400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr1:151467200-151468400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr1:151467200-151468400	Enhancers	A549	lung
18	chr1:151467200-151468400	Enhancers	HepG2	liver
19	chr1:151467200-151468400	Enhancers	HMEC	breast
20	chr1:151467200-151468400	Enhancers	NHLF	lung
21	chr1:151467200-151468600	Enhancers	Brain Cingulate Gyrus	brain
22	chr1:151467200-151468600	Enhancers	Brain Hippocampus Middle	brain
23	chr1:151467200-151468600	Enhancers	NHEK	skin
24	chr1:151467400-151475200	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr1:151467600-151471000	Weak transcription	Duodenum Mucosa	Duodenum
26	chr1:151467800-151468600	Enhancers	Brain Anterior Caudate	brain
27	chr1:151468000-151474400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr1:151468200-151468400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr1:151468200-151468600	Enhancers	Placenta Amnion	Placenta Amnion
30	chr1:151468200-151468800	Enhancers	Lung	lung
31	chr1:151468200-151474600	Weak transcription	Hela-S3	cervix

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