Variant report

Variant	rs4916232
Chromosome Location	chr1:171496295-171496296
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:171495435..171497066-chr1:171526761..171528995,2	K562	blood:

Extended variants
information (count: 89 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:83)

rs_ID	r²[population]
rs10753119	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10753120	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10753121	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10753126	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10913176	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10913198	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs116358	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13722	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1626990	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1687057	0.80[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1687060	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1687061	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1687064	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs170969	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs182897	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2015996	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2038042	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2179141	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2207193	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2223898	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2272809	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2294289	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs235465	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs235466	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs235467	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs235468	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs235469	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs235470	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs235473	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs235476	0.81[EUR][1000 genomes]
rs235480	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs235481	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs235482	0.80[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs235484	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs235487	0.86[ASN][1000 genomes]
rs235489	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs235491	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs235492	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs235493	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs235494	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs235497	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs235500	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs235501	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs235503	0.83[EUR][1000 genomes]
rs235504	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs235505	0.83[EUR][1000 genomes]
rs235506	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs235508	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs235509	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs235510	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs235883	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs235884	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs235885	0.84[EUR][1000 genomes]
rs235887	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs235905	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs235906	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs235907	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs235908	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2421841	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34230913	0.81[AMR][1000 genomes]
rs4276951	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4384265	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4916230	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4916231	0.90[ASN][1000 genomes]
rs4916389	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4916391	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4916392	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4916393	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4916394	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61814663	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61814673	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6697306	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6702990	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7514441	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7523355	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7535195	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7536075	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7538827	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7548158	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs760643	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs760644	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs954035	0.83[EUR][1000 genomes]
rs958021	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv14617	chr1:171016086-171726961	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	esv3512995	chr1:171329123-171994470	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
3	esv3512997	chr1:171329123-171994470	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	nsv465639	chr1:171459507-171545051	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv548190	chr1:171459507-171545051	Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	esv3381915	chr1:171496286-171496903	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4916232	DNM3OS	cis	Artery Tibial	GTEx

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:171475800-171524400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:171476000-171498800	Weak transcription	Fetal Heart	heart
3	chr1:171478800-171497800	Weak transcription	Stomach Mucosa	stomach
4	chr1:171481000-171528000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr1:171481200-171518800	Strong transcription	HUES64 Cell Line	embryonic stem cell
6	chr1:171481200-171519200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr1:171481200-171519600	Strong transcription	Dnd41	blood
8	chr1:171481200-171520000	Strong transcription	Primary monocytes fromperipheralblood	blood
9	chr1:171481200-171522400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr1:171481400-171519200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr1:171481400-171519800	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr1:171481400-171520000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr1:171481400-171522800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
14	chr1:171481600-171519200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr1:171481600-171520600	Strong transcription	Primary T cells fromperipheralblood	blood
16	chr1:171481800-171520000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
17	chr1:171481800-171520600	Strong transcription	Placenta	Placenta
18	chr1:171482000-171519800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr1:171482000-171520000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
20	chr1:171482000-171520400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr1:171482000-171520400	Strong transcription	Rectal Mucosa Donor 31	rectum
22	chr1:171482000-171522000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr1:171482000-171523000	Strong transcription	Primary T helper cells fromperipheralblood	blood
24	chr1:171482000-171524400	Strong transcription	HUES6 Cell Line	embryonic stem cell
25	chr1:171482200-171496600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
26	chr1:171482200-171506400	Strong transcription	Primary neutrophils fromperipheralblood	blood
27	chr1:171482200-171508200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr1:171482200-171512000	Strong transcription	Primary T cells from cord blood	blood
29	chr1:171482200-171518400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr1:171482200-171519200	Strong transcription	HUES48 Cell Line	embryonic stem cell
31	chr1:171482200-171520000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr1:171482200-171520000	Strong transcription	Rectal Mucosa Donor 29	rectum
33	chr1:171482200-171520400	Strong transcription	Duodenum Mucosa	Duodenum
34	chr1:171482200-171520600	Strong transcription	Primary T helper cells PMA-I stimulated	--
35	chr1:171482200-171520600	Strong transcription	Fetal Thymus	thymus
36	chr1:171482200-171541800	Strong transcription	Primary B cells from peripheral blood	blood
37	chr1:171482400-171503200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr1:171482400-171520000	Strong transcription	Liver	Liver
39	chr1:171482400-171520400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr1:171482600-171520600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr1:171483200-171496400	Strong transcription	Muscle Satellite Cultured Cells	--
42	chr1:171483200-171505800	Strong transcription	Fetal Muscle Leg	muscle
43	chr1:171483200-171513800	Strong transcription	Fetal Muscle Trunk	muscle
44	chr1:171483200-171520400	Strong transcription	Primary T helper naive cells from peripheral blood	blood
45	chr1:171483200-171520600	Strong transcription	H1 Cell Line	embryonic stem cell
46	chr1:171483600-171503400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr1:171483600-171513200	Strong transcription	Skeletal Muscle Female	skeletal muscle
48	chr1:171483600-171520400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr1:171483800-171501800	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
50	chr1:171485200-171513800	Strong transcription	Fetal Intestine Large	intestine

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