Variant report

Variant	rs3749123
Chromosome Location	chr2:180307783-180307784
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs1028179	0.83[LWK][hapmap];0.86[MKK][hapmap];1.00[YRI][hapmap]
rs16866735	0.91[CEU][hapmap];0.85[GIH][hapmap];0.83[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.83[EUR][1000 genomes]
rs2292820	0.88[CEU][hapmap];1.00[YRI][hapmap];0.83[EUR][1000 genomes]
rs67034434	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs67886810	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72968267	0.83[EUR][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3749123	TTC30B	cis	cerebellum	SCAN

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:180293800-180307800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:180299800-180308400	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr2:180303800-180307800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr2:180305800-180307800	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr2:180306200-180308000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr2:180306400-180308800	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr2:180306600-180307800	Enhancers	Primary neutrophils fromperipheralblood	blood
8	chr2:180306600-180308600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr2:180306600-180311400	Strong transcription	Liver	Liver
10	chr2:180306800-180307800	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr2:180306800-180307800	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr2:180306800-180309000	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr2:180307000-180309800	Enhancers	Placenta Amnion	Placenta Amnion
14	chr2:180307000-180310200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr2:180307200-180310400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
16	chr2:180307400-180307800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr2:180307400-180308000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr2:180307400-180308200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr2:180307400-180308200	Enhancers	Fetal Heart	heart
20	chr2:180307400-180308600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr2:180307400-180309800	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr2:180307400-180310200	Enhancers	H1 Cell Line	embryonic stem cell
23	chr2:180307400-180310200	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr2:180307400-180310600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr2:180307400-180312800	Enhancers	NHEK	skin
26	chr2:180307600-180307800	Enhancers	iPS-20b Cell Line	embryonic stem cell
27	chr2:180307600-180307800	Enhancers	HepG2	liver
28	chr2:180307600-180308200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr2:180307600-180308200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr2:180307600-180308200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
31	chr2:180307600-180308600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
32	chr2:180307600-180309800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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