Variant report

Variant	rs10913673
Chromosome Location	chr1:178996413-178996414
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:178994647..178996585-chr1:179051040..179053373,3	MCF-7	breast:
2	chr1:178994037..178996559-chr6:26216842..26218993,2	MCF-7	breast:
3	chr1:178993182..178999783-chr1:179045102..179052535,14	MCF-7	breast:
4	chr1:178995068..178997335-chr1:179038354..179040451,4	K562	blood:

Variant related genes	Relation type
ENSG00000187990	Chromatin interaction
ENSG00000186283	Chromatin interaction
ENSG00000168274	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10913676	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10913681	0.94[ASN][1000 genomes]
rs10913689	0.91[CHB][hapmap];0.93[JPT][hapmap]
rs12064702	0.85[ASN][1000 genomes]
rs12567630	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12568291	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12725164	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12733622	0.89[JPT][hapmap]
rs12735672	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2025581	0.89[ASN][1000 genomes]
rs2209453	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2224962	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2224963	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2274227	0.82[EUR][1000 genomes]
rs34636548	0.92[ASN][1000 genomes]
rs3766636	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs4651011	0.94[ASN][1000 genomes]
rs4652346	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4652349	0.94[ASN][1000 genomes]
rs4652350	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs4652352	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs4652353	0.89[ASN][1000 genomes]
rs4652355	0.81[CEU][hapmap];0.89[JPT][hapmap]
rs6425516	0.94[ASN][1000 genomes]
rs67498652	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7517000	0.87[CHB][hapmap];0.95[JPT][hapmap]
rs7517999	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs7520456	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7526276	0.92[ASN][1000 genomes]
rs7541378	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7541793	0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs7548966	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs9729556	0.87[CHB][hapmap];0.95[JPT][hapmap]

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	esv3420967	chr1:178993954-178996502	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10913673	TOR3A	cis	Artery Tibial	GTEx
rs10913673	FAM20B	cis	multi-tissue	Pritchard

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:178994200-178996600	Active TSS	Colonic Mucosa	Colon
2	chr1:178994200-178996800	Active TSS	Psoas Muscle	Psoas
3	chr1:178994200-178996800	Active TSS	NHDF-Ad	bronchial
4	chr1:178994400-178996600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr1:178994400-178996600	Active TSS	Ovary	ovary
6	chr1:178994400-178996800	Active TSS	Right Ventricle	heart
7	chr1:178994400-178997000	Active TSS	HMEC	breast
8	chr1:178994600-178996600	Active TSS	A549	lung
9	chr1:178994600-178997000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr1:178994600-178997000	Active TSS	NHLF	lung
11	chr1:178994600-178997200	Active TSS	GM12878-XiMat	blood
12	chr1:178994800-178996600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr1:178994800-178996600	Active TSS	HSMM	muscle
14	chr1:178994800-178996600	Active TSS	HSMMtube	muscle
15	chr1:178995000-178996800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr1:178995400-178996600	Flanking Active TSS	Primary hematopoietic stem cells	blood
17	chr1:178995600-178996600	Flanking Active TSS	Primary B cells from cord blood	blood
18	chr1:178995600-178997000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr1:178995800-178996600	Flanking Active TSS	Adipose Nuclei	Adipose
20	chr1:178995800-178996600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
21	chr1:178995800-178996600	Flanking Active TSS	HUVEC	blood vessel
22	chr1:178995800-178996800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
23	chr1:178995800-178996800	Flanking Active TSS	Liver	Liver
24	chr1:178995800-178996800	Active TSS	Right Atrium	heart
25	chr1:178995800-178996800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
26	chr1:178995800-178997000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr1:178995800-178997000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr1:178996000-178996600	Flanking Active TSS	Primary B cells from peripheral blood	blood
29	chr1:178996000-178996600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr1:178996000-178996600	Flanking Active TSS	Fetal Brain Male	brain
31	chr1:178996000-178996600	Flanking Active TSS	NH-A	brain
32	chr1:178996000-178996600	Flanking Active TSS	Osteobl	bone
33	chr1:178996000-178996800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr1:178996000-178996800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
35	chr1:178996000-178996800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
36	chr1:178996000-178996800	Flanking Active TSS	Brain Angular Gyrus	brain
37	chr1:178996000-178996800	Flanking Active TSS	Colon Smooth Muscle	Colon
38	chr1:178996000-178996800	Flanking Active TSS	Duodenum Mucosa	Duodenum
39	chr1:178996000-178996800	Flanking Active TSS	Dnd41	blood
40	chr1:178996000-178996800	Flanking Active TSS	Hela-S3	cervix
41	chr1:178996000-178996800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
42	chr1:178996000-178997000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
43	chr1:178996000-178997000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
44	chr1:178996000-178997400	Flanking Active TSS	K562	blood
45	chr1:178996200-178996600	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr1:178996200-178996600	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
47	chr1:178996200-178996600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
48	chr1:178996200-178996600	Enhancers	Primary neutrophils fromperipheralblood	blood
49	chr1:178996200-178996600	Flanking Active TSS	Fetal Heart	heart
50	chr1:178996200-178996600	Flanking Active TSS	Fetal Lung	lung

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