Variant report

Variant	rs6702990
Chromosome Location	chr1:171457392-171457393
allele	C/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	STAT3	chr1:171457253-171457608	MCF10A-Er-Src	breast:	n/a	chr1:171457556-171457564
2	STAT3	chr1:171457285-171457579	MCF10A-Er-Src	breast:	n/a	chr1:171457556-171457564
3	STAT3	chr1:171457321-171457617	MCF10A-Er-Src	breast:	n/a	chr1:171457556-171457564
4	GATA3	chr1:171457331-171458139	T-47D	breast:	n/a	chr1:171457894-171457906 chr1:171457895-171457903
5	RFX5	chr1:171457386-171457466	Hela-S3	cervix:	n/a	n/a
6	FOS	chr1:171457351-171457697	MCF10A-Er-Src	breast:	n/a	n/a
7	FOS	chr1:171457299-171457655	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:171452969..171454844-chr1:171456792..171458676,3	K562	blood:
2	chr1:171454829..171458429-chr1:171468344..171472224,4	MCF-7	breast:
3	chr1:171455198..171457522-chr1:171482757..171484309,2	MCF-7	breast:
4	chr1:171454832..171457416-chr1:171532662..171535516,2	MCF-7	breast:

Variant related genes	Relation type
RN7SL425P	TF binding region
ENSG00000117523	Chromatin interaction

Extended variants
information (count: 87 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10753119	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10753120	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10753121	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10753126	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10913176	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10913198	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs116358	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13722	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1626990	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1687057	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1687060	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1687061	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1687064	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs170969	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs182897	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1980512	0.90[AFR][1000 genomes]
rs2015996	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2038042	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2179141	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2207193	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2223898	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2272809	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2294289	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs235465	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs235466	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs235467	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs235468	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs235469	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs235470	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs235473	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs235476	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs235480	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs235481	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs235482	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs235484	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs235485	0.82[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs235487	0.91[ASN][1000 genomes]
rs235489	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs235491	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs235492	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs235493	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs235494	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs235497	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs235500	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs235501	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs235503	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs235504	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs235505	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs235506	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs235508	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs235509	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs235510	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs235883	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs235884	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs235885	0.82[AFR][1000 genomes];0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs235887	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs235905	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs235906	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs235907	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs235908	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2421841	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4276951	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4384265	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4916230	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4916231	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4916232	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4916389	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4916391	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4916392	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4916393	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4916394	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61814663	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61814673	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6697306	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7514441	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7523355	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7535195	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7536075	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7538827	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7548158	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs760643	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs760644	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs954035	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	esv2230348	chr1:171456967-171457399	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6702990	DNM3OS	cis	Artery Tibial	GTEx

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:171453600-171457400	Active TSS	GM12878-XiMat	blood
2	chr1:171453600-171458200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr1:171453800-171457600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr1:171454000-171457800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr1:171455400-171457600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr1:171455600-171458000	Flanking Active TSS	HUVEC	blood vessel
7	chr1:171455600-171458200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
8	chr1:171455600-171461600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr1:171455800-171457600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr1:171455800-171457600	Weak transcription	Esophagus	oesophagus
11	chr1:171455800-171459000	Enhancers	Stomach Mucosa	stomach
12	chr1:171455800-171461600	Weak transcription	Gastric	stomach
13	chr1:171455800-171465400	Weak transcription	Lung	lung
14	chr1:171455800-171467800	Weak transcription	Spleen	Spleen
15	chr1:171456000-171457400	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
16	chr1:171456000-171457400	Flanking Active TSS	NHEK	skin
17	chr1:171456000-171457600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
18	chr1:171456000-171459000	Weak transcription	Pancreas	Pancrea
19	chr1:171456000-171481800	Weak transcription	Placenta	Placenta
20	chr1:171456200-171457400	Transcr. at gene 5' and 3'	Dnd41	blood
21	chr1:171456200-171457600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr1:171456200-171457800	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr1:171456200-171457800	Enhancers	Rectal Smooth Muscle	rectum
24	chr1:171456200-171458000	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr1:171456200-171458000	Enhancers	Primary neutrophils fromperipheralblood	blood
26	chr1:171456200-171458000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr1:171456200-171458000	Enhancers	Placenta Amnion	Placenta Amnion
28	chr1:171456200-171459800	Enhancers	Fetal Heart	heart
29	chr1:171456200-171461600	Weak transcription	Left Ventricle	heart
30	chr1:171456200-171467800	Weak transcription	Fetal Muscle Trunk	muscle
31	chr1:171456200-171475000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr1:171456400-171457400	Enhancers	Primary hematopoietic stem cells	blood
33	chr1:171456400-171457400	Weak transcription	Aorta	Aorta
34	chr1:171456400-171457400	Weak transcription	Ovary	ovary
35	chr1:171456400-171457400	Weak transcription	Right Atrium	heart
36	chr1:171456400-171457400	Active TSS	HMEC	breast
37	chr1:171456400-171457400	Enhancers	HSMM	muscle
38	chr1:171456400-171457600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr1:171456400-171457600	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr1:171456400-171457800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr1:171456400-171457800	Enhancers	Rectal Mucosa Donor 31	rectum
42	chr1:171456400-171458000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr1:171456400-171458000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
44	chr1:171456400-171458000	Enhancers	Osteobl	bone
45	chr1:171456400-171458200	Enhancers	Brain Cingulate Gyrus	brain
46	chr1:171456400-171458400	Enhancers	Brain Hippocampus Middle	brain
47	chr1:171456400-171458400	Enhancers	Skeletal Muscle Female	skeletal muscle
48	chr1:171456400-171459000	Weak transcription	Primary T cells fromperipheralblood	blood
49	chr1:171456400-171460200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr1:171456400-171460200	Enhancers	Liver	Liver

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