Variant report

Variant	rs12058511
Chromosome Location	chr1:93028362-93028363
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:93027014..93029326-chr1:93048258..93050872,2	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11164660	0.83[AFR][1000 genomes]
rs11164793	0.80[AFR][1000 genomes]
rs11164795	0.80[AFR][1000 genomes]
rs11164797	0.96[LWK][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes]
rs12059319	0.96[LWK][hapmap];1.00[MKK][hapmap]
rs12075870	1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs12076954	1.00[YRI][hapmap]
rs12077455	0.80[AFR][1000 genomes]
rs12081539	0.87[AFR][1000 genomes]
rs12092791	0.83[LWK][hapmap]
rs12094086	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes]
rs28696358	0.91[AFR][1000 genomes]
rs28716853	0.95[AFR][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	nsv523354	chr1:92931263-93064823	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv1004381	chr1:92968173-93064823	Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
3	nsv830603	chr1:93003657-93172206	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12058511	TGFBR3	cis	lymphoblastoid	seeQTL

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:92968200-93042800	Weak transcription	HSMM	muscle
2	chr1:92976400-93042400	Weak transcription	Fetal Stomach	stomach
3	chr1:92981800-93033400	Weak transcription	NHEK	skin
4	chr1:92983600-93066200	Weak transcription	Adipose Nuclei	Adipose
5	chr1:92994600-93066000	Weak transcription	Placenta	Placenta
6	chr1:93004400-93028400	Weak transcription	Primary B cells from cord blood	blood
7	chr1:93004400-93032400	Weak transcription	Fetal Intestine Small	intestine
8	chr1:93004400-93033000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr1:93004400-93042200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr1:93004400-93042400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr1:93004400-93070000	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr1:93007800-93042600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr1:93009800-93029200	Weak transcription	Primary monocytes fromperipheralblood	blood
14	chr1:93012000-93042800	Weak transcription	Left Ventricle	heart
15	chr1:93014800-93053000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr1:93014800-93100200	Weak transcription	Right Ventricle	heart
17	chr1:93017000-93066000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr1:93018600-93054600	Weak transcription	Lung	lung
19	chr1:93020000-93029400	Weak transcription	Primary B cells from peripheral blood	blood
20	chr1:93022000-93042400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr1:93024200-93056000	Weak transcription	Fetal Heart	heart
22	chr1:93026000-93033600	Weak transcription	Liver	Liver
23	chr1:93026000-93091800	Weak transcription	Hela-S3	cervix
24	chr1:93027000-93043400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr1:93027400-93066000	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr1:93027600-93029200	Enhancers	Primary neutrophils fromperipheralblood	blood
27	chr1:93027800-93042400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr1:93027800-93042600	Weak transcription	NH-A	brain
29	chr1:93028000-93029600	Enhancers	Primary hematopoietic stem cells	blood
30	chr1:93028000-93029800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr1:93028200-93029200	Enhancers	Monocytes-CD14+_RO01746	blood
32	chr1:93028200-93029400	Enhancers	Primary hematopoietic stem cells short term culture	blood
33	chr1:93028200-93029600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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