Variant report

Variant	rs10753120
Chromosome Location	chr1:171469350-171469351
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:171452664..171455516-chr1:171467805..171470037,2	K562	blood:
2	chr1:171465256..171467403-chr1:171468400..171471374,3	MCF-7	breast:
3	chr1:171454829..171458429-chr1:171468344..171472224,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000117523	Chromatin interaction

Extended variants
information (count: 91 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:86)

rs_ID	r²[population]
rs10753119	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10753121	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10753126	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10913176	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10913198	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs116358	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13722	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1626990	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1687057	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1687060	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1687061	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1687064	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs170969	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs182897	0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1980512	1.00[YRI][hapmap];0.89[AFR][1000 genomes]
rs2015996	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2038042	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2179141	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2207193	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2223898	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2272809	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2294289	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs235465	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs235466	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs235467	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs235468	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs235469	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs235470	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs235473	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs235476	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs235480	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs235481	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs235482	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs235484	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs235485	0.89[ASN][1000 genomes]
rs235487	0.96[ASN][1000 genomes]
rs235489	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs235491	0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs235492	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.84[YRI][hapmap];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs235493	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs235494	0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs235496	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap]
rs235497	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs235500	0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs235501	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs235503	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs235504	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs235505	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs235506	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs235508	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs235509	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs235510	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs235883	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs235884	0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs235885	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs235887	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs235905	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs235906	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs235907	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs235908	0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2421841	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4276951	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4384265	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4916230	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4916231	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4916232	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4916389	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[YRI][hapmap];0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4916391	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4916392	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4916393	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4916394	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61814663	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61814673	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6697306	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6702990	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7514441	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7523355	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7535195	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7536075	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7536460	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap]
rs7538827	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7548158	0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs760643	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs760644	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs764206	0.83[CHB][hapmap];1.00[JPT][hapmap]
rs954035	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10753120	DNM3OS	cis	Artery Tibial	GTEx

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:171456000-171481800	Weak transcription	Placenta	Placenta
2	chr1:171456200-171475000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:171456400-171470200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr1:171456400-171471200	Weak transcription	Thymus	Thymus
5	chr1:171456400-171473000	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr1:171456400-171481800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
7	chr1:171456400-171483600	Weak transcription	Fetal Intestine Large	intestine
8	chr1:171456600-171469600	Weak transcription	Fetal Stomach	stomach
9	chr1:171456800-171474800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr1:171457600-171471000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr1:171457800-171482000	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr1:171457800-171482200	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr1:171458200-171471000	Weak transcription	Fetal Brain Female	brain
14	chr1:171459000-171482000	Weak transcription	HMEC	breast
15	chr1:171460400-171471800	Weak transcription	Duodenum Mucosa	Duodenum
16	chr1:171460800-171470200	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr1:171460800-171470600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr1:171460800-171481400	Weak transcription	HSMM	muscle
19	chr1:171461800-171469800	Weak transcription	Primary B cells from cord blood	blood
20	chr1:171461800-171470400	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr1:171462600-171471200	Weak transcription	Right Atrium	heart
22	chr1:171462600-171478000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr1:171462600-171482400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr1:171463000-171483200	Weak transcription	Fetal Muscle Leg	muscle
25	chr1:171464000-171475200	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr1:171464000-171483200	Weak transcription	Esophagus	oesophagus
27	chr1:171464200-171471000	Weak transcription	Brain Hippocampus Middle	brain
28	chr1:171464200-171474600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr1:171464200-171476000	Weak transcription	NHDF-Ad	bronchial
30	chr1:171464200-171476800	Weak transcription	Brain Angular Gyrus	brain
31	chr1:171464200-171481600	Weak transcription	NHEK	skin
32	chr1:171464400-171469600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr1:171464400-171470000	Weak transcription	Brain Cingulate Gyrus	brain
34	chr1:171464400-171470600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr1:171464400-171470600	Weak transcription	Fetal Brain Male	brain
36	chr1:171464400-171475400	Weak transcription	NH-A	brain
37	chr1:171464600-171470400	Weak transcription	Brain Germinal Matrix	brain
38	chr1:171464600-171471200	Weak transcription	Brain Anterior Caudate	brain
39	chr1:171465000-171473400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr1:171465000-171475000	Weak transcription	Rectal Smooth Muscle	rectum
41	chr1:171465000-171476200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr1:171465200-171470600	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr1:171465200-171470600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr1:171465200-171472400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr1:171465200-171475200	Weak transcription	Osteobl	bone
46	chr1:171465200-171475400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr1:171465200-171481800	Weak transcription	HUVEC	blood vessel
48	chr1:171465200-171482200	Weak transcription	Fetal Lung	lung
49	chr1:171465200-171483200	Weak transcription	NHLF	lung
50	chr1:171465200-171483600	Weak transcription	Stomach Smooth Muscle	stomach

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