Variant report

Variant	rs35247064
Chromosome Location	chr3:42865270-42865271
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:42864895..42866397-chr3:42889838..42892299,2	K562	blood:
2	chr3:42863648..42866062-chr3:42870307..42872848,2	K562	blood:
3	chr3:42825664..42827247-chr3:42863922..42866111,2	MCF-7	breast:
4	chr3:42863918..42866711-chr3:42866825..42870903,9	MCF-7	breast:
5	chr3:42854558..42863000-chr3:42863307..42874321,18	MCF-7	breast:

Variant related genes	Relation type
ENSG00000144648	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs34543107	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34582006	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35367066	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35429669	0.81[AFR][1000 genomes]
rs4396867	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55953104	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6767710	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1847016	chr3:42855765-42880490	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs35247064	LOC348817	cis	intralobular white matter	BrainEAC

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:42857000-42869800	Weak transcription	Colonic Mucosa	Colon
2	chr3:42861600-42873000	Weak transcription	Esophagus	oesophagus
3	chr3:42861600-42885400	Weak transcription	Pancreas	Pancrea
4	chr3:42861800-42868400	Weak transcription	Liver	Liver
5	chr3:42861800-42872600	Weak transcription	Brain Anterior Caudate	brain
6	chr3:42862400-42872800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr3:42863000-42870200	Weak transcription	Hela-S3	cervix
8	chr3:42863000-42871000	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr3:42864000-42866200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr3:42864200-42865400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr3:42864200-42865600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr3:42864200-42865600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr3:42864400-42865400	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr3:42864400-42865400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr3:42864400-42865400	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr3:42864400-42865600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr3:42864400-42865600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr3:42864400-42865600	Enhancers	Rectal Mucosa Donor 31	rectum
19	chr3:42864600-42865400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr3:42864600-42865600	Enhancers	Rectal Mucosa Donor 29	rectum
21	chr3:42864600-42865600	Flanking Active TSS	NHEK	skin
22	chr3:42864800-42865400	Enhancers	GM12878-XiMat	blood
23	chr3:42864800-42869200	Weak transcription	Placenta	Placenta
24	chr3:42865000-42865600	Enhancers	Placenta Amnion	Placenta Amnion
25	chr3:42865000-42866000	Enhancers	HepG2	liver
26	chr3:42865000-42866000	Enhancers	HMEC	breast
27	chr3:42865000-42867000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr3:42865200-42865400	Enhancers	Adipose Nuclei	Adipose
29	chr3:42865200-42866000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr3:42865200-42869000	Weak transcription	Stomach Mucosa	stomach
31	chr3:42865200-42870400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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