Variant report

Variant	rs1050818
Chromosome Location	chr1:150266559-150266560
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:150204882..150207260-chr1:150266148..150269015,2	MCF-7	breast:
2	chr1:150264700..150268461-chr1:150290358..150296338,12	MCF-7	breast:
3	chr1:150263378..150268409-chr1:150334980..150339088,9	MCF-7	breast:
4	chr1:150264985..150267116-chr1:150337062..150338980,2	MCF-7	breast:
5	chr1:150240223..150242953-chr1:150263372..150266971,3	K562	blood:
6	chr1:150206740..150208650-chr1:150266063..150267858,3	K562	blood:
7	chr1:150242514..150245022-chr1:150266520..150269823,3	K562	blood:
8	chr1:150264496..150269056-chr1:150292330..150296241,7	MCF-7	breast:
9	chr1:150240546..150242221-chr1:150264940..150266566,2	K562	blood:
10	chr1:150234315..150237513-chr1:150265191..150267090,3	K562	blood:
11	chr1:150264617..150266703-chr1:150314248..150316568,2	MCF-7	breast:
12	chr1:149855825..149859735-chr1:150264985..150268023,4	MCF-7	breast:
13	chr1:150264361..150267747-chr1:150292578..150295568,3	K562	blood:
14	chr1:150265074..150268122-chr1:150334427..150338986,4	K562	blood:
15	chr1:149898401..149901391-chr1:150266202..150267826,2	MCF-7	breast:
16	chr1:150205825..150209635-chr1:150259375..150267858,10	K562	blood:
17	chr1:150265031..150267516-chr1:150292699..150295000,3	K562	blood:
18	chr1:150265389..150267976-chr1:150336270..150338986,2	K562	blood:
19	chr1:150206170..150208675-chr1:150264452..150269195,6	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000178096	Chromatin interaction
ENSG00000143368	Chromatin interaction
ENSG00000184260	Chromatin interaction
ENSG00000117360	Chromatin interaction
ENSG00000184678	Chromatin interaction
ENSG00000184270	Chromatin interaction
ENSG00000117362	Chromatin interaction
ENSG00000143401	Chromatin interaction
ENSG00000118298	Chromatin interaction
ENSG00000118292	Chromatin interaction
ENSG00000222222	Chromatin interaction
ENSG00000163125	Chromatin interaction

Extended variants
information (count: 160 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:156)

rs_ID	r²[population]
rs1011546	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1043293	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs10749674	1.00[CHB][hapmap]
rs10788874	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs10888581	1.00[ASN][1000 genomes]
rs10888582	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];1.00[ASN][1000 genomes]
rs1105209	1.00[CHB][hapmap]
rs11205326	1.00[CHB][hapmap]
rs11205362	1.00[CHB][hapmap]
rs11205366	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11205368	1.00[ASN][1000 genomes]
rs11205369	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11205376	1.00[ASN][1000 genomes]
rs11205378	1.00[ASN][1000 genomes]
rs11205381	1.00[ASN][1000 genomes]
rs11205383	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11548267	1.00[CHB][hapmap]
rs11577751	1.00[CHB][hapmap]
rs11578585	1.00[CHB][hapmap]
rs11579341	1.00[CHB][hapmap]
rs11580234	1.00[CHB][hapmap]
rs11580810	0.89[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap];1.00[ASN][1000 genomes]
rs11581051	0.88[ASW][hapmap];0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];1.00[ASN][1000 genomes]
rs11582094	0.89[ASW][hapmap];1.00[CHB][hapmap];0.84[LWK][hapmap];0.82[MEX][hapmap];0.86[MKK][hapmap];1.00[ASN][1000 genomes]
rs11584070	1.00[CHB][hapmap]
rs11584091	1.00[CHB][hapmap]
rs11584488	1.00[ASN][1000 genomes]
rs11584613	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11584761	1.00[CHB][hapmap]
rs11587682	1.00[CHB][hapmap]
rs11588184	1.00[ASN][1000 genomes]
rs11588221	1.00[CHB][hapmap]
rs11588837	1.00[CHB][hapmap]
rs11588874	1.00[ASN][1000 genomes]
rs11589873	1.00[ASN][1000 genomes]
rs11591200	1.00[CHB][hapmap]
rs11808242	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11811159	1.00[ASN][1000 genomes]
rs11811950	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12086155	1.00[CHB][hapmap]
rs12120683	1.00[CHB][hapmap]
rs12120779	1.00[ASN][1000 genomes]
rs12121133	1.00[ASN][1000 genomes]
rs12121966	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12123103	1.00[ASN][1000 genomes]
rs12124898	1.00[CHB][hapmap]
rs12126130	1.00[ASN][1000 genomes]
rs12126240	1.00[ASN][1000 genomes]
rs12126312	1.00[CHB][hapmap]
rs12126327	1.00[ASN][1000 genomes]
rs12126357	1.00[ASN][1000 genomes]
rs12126958	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12128385	1.00[CHB][hapmap]
rs12128653	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12129491	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12130082	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12130583	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12131083	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs12131672	1.00[ASN][1000 genomes]
rs12134306	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12136332	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12136802	1.00[ASN][1000 genomes]
rs12137967	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12138453	1.00[CHB][hapmap]
rs12138787	1.00[CHB][hapmap]
rs12139286	0.88[ASW][hapmap];1.00[CHB][hapmap];1.00[LWK][hapmap];0.98[MKK][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs12139488	1.00[ASN][1000 genomes]
rs12140697	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12141218	1.00[ASN][1000 genomes]
rs12142178	0.87[AFR][1000 genomes]
rs12142196	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12142874	1.00[CHB][hapmap]
rs12144091	1.00[ASN][1000 genomes]
rs12145082	1.00[ASN][1000 genomes]
rs12145566	1.00[ASN][1000 genomes]
rs12145630	1.00[CHB][hapmap]
rs12145967	1.00[ASN][1000 genomes]
rs12726415	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];1.00[ASN][1000 genomes]
rs12731738	1.00[ASN][1000 genomes]
rs12738490	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];1.00[ASN][1000 genomes]
rs12739019	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12741448	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12745446	1.00[ASN][1000 genomes]
rs12757823	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1343965	1.00[ASN][1000 genomes]
rs1382573	1.00[CHB][hapmap]
rs1545762	1.00[CHB][hapmap]
rs16835254	1.00[CHB][hapmap]
rs16835780	1.00[CHB][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes]
rs16836143	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[YRI][hapmap];0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16836230	0.95[CEU][hapmap];0.94[YRI][hapmap];0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs16836940	1.00[CEU][hapmap];1.00[GIH][hapmap];0.91[TSI][hapmap]
rs1962480	1.00[ASN][1000 genomes]
rs2039800	1.00[CHB][hapmap]
rs2133128	1.00[CHB][hapmap]
rs2173376	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2279171	1.00[CHB][hapmap]
rs2318763	1.00[CHB][hapmap]
rs3118119	1.00[CHB][hapmap]
rs3208509	1.00[CHB][hapmap]
rs34029237	1.00[ASN][1000 genomes]
rs34247601	1.00[ASN][1000 genomes]
rs34353365	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34391279	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34456572	1.00[ASN][1000 genomes]
rs34755378	1.00[CHB][hapmap]
rs34906632	1.00[ASN][1000 genomes]
rs34933405	1.00[ASN][1000 genomes]
rs35322831	1.00[ASN][1000 genomes]
rs35591746	1.00[ASN][1000 genomes]
rs35699789	1.00[ASN][1000 genomes]
rs35839589	1.00[ASN][1000 genomes]
rs35989785	1.00[ASN][1000 genomes]
rs36020363	1.00[ASN][1000 genomes]
rs36023386	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36029278	1.00[ASN][1000 genomes]
rs36038795	1.00[ASN][1000 genomes]
rs36122812	1.00[ASN][1000 genomes]
rs3850841	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3862206	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];1.00[ASN][1000 genomes]
rs3925724	1.00[CHB][hapmap]
rs41264139	1.00[ASN][1000 genomes]
rs4926409	1.00[CHB][hapmap]
rs4926411	1.00[CHB][hapmap]
rs4926412	1.00[CHB][hapmap]
rs55816515	1.00[ASN][1000 genomes]
rs56321241	1.00[ASN][1000 genomes]
rs66513313	1.00[ASN][1000 genomes]
rs6666959	1.00[CHB][hapmap]
rs6670974	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6686690	1.00[ASN][1000 genomes]
rs6686809	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6694168	1.00[ASN][1000 genomes]
rs6703798	1.00[ASN][1000 genomes]
rs67566205	1.00[ASN][1000 genomes]
rs67654647	1.00[ASN][1000 genomes]
rs67733549	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67903303	1.00[ASN][1000 genomes]
rs68097764	1.00[ASN][1000 genomes]
rs71622700	1.00[ASN][1000 genomes]
rs72696844	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72696853	1.00[ASN][1000 genomes]
rs72698829	1.00[ASN][1000 genomes]
rs72698868	1.00[ASN][1000 genomes]
rs72698870	1.00[ASN][1000 genomes]
rs74127616	1.00[ASN][1000 genomes]
rs7417465	1.00[ASN][1000 genomes]
rs7519691	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7521768	1.00[CHB][hapmap]
rs7521783	1.00[CHB][hapmap]
rs7522820	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7542068	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap];1.00[ASN][1000 genomes]
rs7542510	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7552883	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs942453	0.82[ASW][hapmap];1.00[CHB][hapmap];0.95[LWK][hapmap];0.89[MKK][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs9651184	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[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	nsv529719	chr1:150006344-150311095	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
2	nsv916014	chr1:150187139-150537483	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	164 gene(s)	inside rSNPs	diseases
3	nsv1009508	chr1:150211112-150270830	Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	nsv1011223	chr1:150229205-150279380	Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1050818	MRPS21	cis	parietal	SCAN

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:150265400-150266600	Active TSS	Rectal Mucosa Donor 29	rectum
2	chr1:150265400-150266800	Active TSS	Rectal Mucosa Donor 31	rectum
3	chr1:150265400-150267000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr1:150265400-150267000	ZNF genes & repeats	Fetal Brain Male	brain
5	chr1:150265400-150267200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr1:150265400-150267200	Active TSS	Psoas Muscle	Psoas
7	chr1:150265600-150266800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr1:150265600-150266800	Active TSS	Brain Hippocampus Middle	brain
9	chr1:150265600-150266800	Active TSS	Brain Substantia Nigra	brain
10	chr1:150265600-150266800	Active TSS	Duodenum Mucosa	Duodenum
11	chr1:150265600-150267000	Active TSS	Right Atrium	heart
12	chr1:150265600-150267400	Active TSS	iPS-15b Cell Line	embryonic stem cell
13	chr1:150265800-150266600	Active TSS	Brain Anterior Caudate	brain
14	chr1:150265800-150266600	Active TSS	Duodenum Smooth Muscle	Duodenum
15	chr1:150265800-150266800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr1:150265800-150266800	Active TSS	Brain Inferior Temporal Lobe	brain
17	chr1:150265800-150266800	Active TSS	Fetal Brain Female	brain
18	chr1:150265800-150266800	Active TSS	Fetal Stomach	stomach
19	chr1:150265800-150266800	Active TSS	Left Ventricle	heart
20	chr1:150265800-150266800	Active TSS	Right Ventricle	heart
21	chr1:150265800-150267000	Active TSS	Breast Myoepithelial Primary Cells	Breast
22	chr1:150265800-150267000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
23	chr1:150265800-150267000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
24	chr1:150265800-150267000	Flanking Active TSS	Primary hematopoietic stem cells	blood
25	chr1:150265800-150267000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr1:150265800-150267000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
27	chr1:150265800-150267000	Active TSS	Aorta	Aorta
28	chr1:150265800-150267000	Active TSS	Ovary	ovary
29	chr1:150265800-150267000	Active TSS	Stomach Mucosa	stomach
30	chr1:150265800-150267200	Active TSS	H1 Cell Line	embryonic stem cell
31	chr1:150265800-150267200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr1:150265800-150267200	Flanking Active TSS	Fetal Thymus	thymus
33	chr1:150265800-150267200	Active TSS	HSMM	muscle
34	chr1:150265800-150267400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr1:150265800-150267400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr1:150265800-150267800	Active TSS	H9 Cell Line	embryonic stem cell
37	chr1:150265800-150268000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr1:150266000-150266600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr1:150266000-150266600	Active TSS	Primary T cells from cord blood	blood
40	chr1:150266000-150266600	Active TSS	Primary T killer naive cells fromperipheralblood	blood
41	chr1:150266000-150266600	Active TSS	Adipose Nuclei	Adipose
42	chr1:150266000-150266600	Active TSS	Brain Angular Gyrus	brain
43	chr1:150266000-150266600	Active TSS	Brain Cingulate Gyrus	brain
44	chr1:150266000-150266600	Active TSS	Spleen	Spleen
45	chr1:150266000-150266600	Active TSS	Monocytes-CD14+_RO01746	blood
46	chr1:150266000-150266800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
47	chr1:150266000-150266800	Active TSS	Primary T killer memory cells from peripheral blood	blood
48	chr1:150266000-150266800	Active TSS	Esophagus	oesophagus
49	chr1:150266000-150266800	Active TSS	Fetal Muscle Leg	muscle
50	chr1:150266000-150266800	Active TSS	Gastric	stomach

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