Variant report

Variant	rs4912348
Chromosome Location	chr1:59014407-59014408
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr1:59014089-59014419	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:59012212..59014754-chr1:91486233..91488935,2	K562	blood:
2	chr1:58981796..58983981-chr1:59013881..59016702,2	K562	blood:
3	chr1:59013352..59015102-chr1:59015166..59016765,2	MCF-7	breast:
4	chr1:59010739..59013825-chr1:59014370..59019048,5	K562	blood:

Variant related genes	Relation type
DAB1	TF binding region
OMA1	TF binding region
ENSG00000162600	Chromatin interaction
ENSG00000173406	Chromatin interaction
ENSG00000122482	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs1032822	1.00[AMR][1000 genomes]
rs186823	1.00[AMR][1000 genomes]
rs2406786	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs549237	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6587823	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6674886	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6683003	1.00[AMR][1000 genomes]
rs6697776	0.92[AFR][1000 genomes]
rs7548248	1.00[AMR][1000 genomes]
rs7550981	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs902925	0.91[AFR][1000 genomes];1.00[AMR][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	nsv1003930	chr1:58930444-59157038	Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Bivalent Enhancer Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:59012400-59015400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:59012600-59016200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr1:59012800-59014600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr1:59012800-59014600	Weak transcription	Fetal Intestine Small	intestine
5	chr1:59012800-59014800	Enhancers	Primary neutrophils fromperipheralblood	blood
6	chr1:59012800-59015200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr1:59012800-59016000	Enhancers	HepG2	liver
8	chr1:59012800-59016600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr1:59012800-59017400	Weak transcription	Pancreas	Pancrea
10	chr1:59012800-59017600	Weak transcription	Aorta	Aorta
11	chr1:59013000-59014600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr1:59013000-59014600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr1:59013000-59014800	Weak transcription	Primary hematopoietic stem cells	blood
14	chr1:59013000-59014800	Enhancers	Monocytes-CD14+_RO01746	blood
15	chr1:59013000-59016600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr1:59013000-59016600	Weak transcription	Brain Hippocampus Middle	brain
17	chr1:59013000-59016600	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr1:59013200-59014600	Weak transcription	Fetal Heart	heart
19	chr1:59013200-59014600	Weak transcription	Fetal Lung	lung
20	chr1:59013200-59017000	Weak transcription	Fetal Brain Male	brain
21	chr1:59013800-59015200	Enhancers	K562	blood
22	chr1:59014000-59014600	Weak transcription	Esophagus	oesophagus
23	chr1:59014200-59014800	Enhancers	Fetal Intestine Large	intestine
24	chr1:59014200-59014800	Enhancers	Ovary	ovary
25	chr1:59014200-59015800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr1:59014400-59014600	Enhancers	Fetal Kidney	kidney
27	chr1:59014400-59015800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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