Variant report

Variant	rs11211252
Chromosome Location	chr1:46529840-46529841
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:46528747..46531379-chr1:46537742..46540371,2	K562	blood:
2	chr1:46502105..46504084-chr1:46528170..46530129,2	K562	blood:
3	chr1:46529779..46532070-chr1:46597161..46598743,2	MCF-7	breast:
4	chr1:46529831..46532658-chr1:46533875..46536108,2	K562	blood:

Variant related genes	Relation type
ENSG00000117461	Chromatin interaction

Extended variants
information (count: 105 )
Associated
traits (count: 15 )

rSNPs within LD-proxies of this variant (count:92)

rs_ID	r²[population]
rs10789487	0.83[AMR][1000 genomes]
rs1085242	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1085244	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10890383	0.91[EUR][1000 genomes]
rs11211224	0.83[AMR][1000 genomes]
rs11211230	0.83[AMR][1000 genomes]
rs11211234	0.83[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs11211241	0.83[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs11211251	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11576305	0.83[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs11579634	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11589562	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11810993	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12021587	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12049588	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12143096	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12405451	0.83[AMR][1000 genomes]
rs12561806	0.83[AMR][1000 genomes]
rs12564541	0.82[AMR][1000 genomes]
rs12740503	0.81[AMR][1000 genomes]
rs12757810	0.81[AMR][1000 genomes]
rs1355642	0.82[ASN][1000 genomes]
rs1612092	0.87[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs1707304	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1707321	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1707333	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1707335	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1707340	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1768803	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1768809	0.80[AFR][1000 genomes]
rs1768816	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2275426	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2486447	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34102169	0.83[AMR][1000 genomes]
rs34175029	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34325724	0.83[AMR][1000 genomes]
rs35743647	0.83[AMR][1000 genomes]
rs4073846	0.83[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs4076006	0.82[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs4134386	0.83[AMR][1000 genomes]
rs4233500	0.82[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs4440807	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4504835	0.83[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs4638056	0.83[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs4660321	0.82[AMR][1000 genomes]
rs4660322	0.82[AMR][1000 genomes]
rs4660898	0.83[AMR][1000 genomes]
rs4660910	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4660911	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61102033	0.83[AMR][1000 genomes]
rs6656022	0.83[AMR][1000 genomes]
rs6660835	0.82[AMR][1000 genomes]
rs6662641	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6669522	0.83[AMR][1000 genomes]
rs6675726	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6675946	0.82[AMR][1000 genomes]
rs6677007	0.83[AMR][1000 genomes]
rs6686134	0.82[AMR][1000 genomes]
rs6698247	0.82[AMR][1000 genomes]
rs7522601	0.83[AMR][1000 genomes]
rs7526678	0.82[AMR][1000 genomes]
rs7533956	0.81[AMR][1000 genomes]
rs7556615	0.83[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs785464	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs785471	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs785472	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs785473	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs785479	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs785481	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs785482	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs785485	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs785488	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs785489	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs785491	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs785492	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs785494	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs785495	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs785498	0.86[ASN][1000 genomes]
rs785502	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs785503	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs785508	0.96[ASN][1000 genomes]
rs785509	0.96[ASN][1000 genomes]
rs785511	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs785513	0.94[ASN][1000 genomes]
rs785520	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs809774	0.88[ASN][1000 genomes]
rs809775	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9429088	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9429094	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9429183	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9429189	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs946529	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932680	chr1:45935520-46686477	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	232 gene(s)	inside rSNPs	diseases
2	nsv868828	chr1:45953923-46686477	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	232 gene(s)	inside rSNPs	diseases
3	nsv871928	chr1:46024701-46609736	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
4	nsv1003517	chr1:46244432-46609881	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
5	nsv1009474	chr1:46320433-46557734	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
6	nsv1005189	chr1:46335186-46949309	Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
7	nsv534946	chr1:46335186-46949309	ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
8	esv2761743	chr1:46339858-47026743	Active TSS Weak transcription Bivalent Enhancer Enhancers Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
9	nsv1000557	chr1:46383876-46591182	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
10	esv2754420	chr1:46461580-46635180	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
11	nsv1007750	chr1:46471293-46552564	Flanking Active TSS Strong transcription Active TSS Weak transcription Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
12	nsv1006747	chr1:46476089-46655484	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
13	nsv534947	chr1:46476089-46655484	Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

mRNA abundance (count:15)

SNP	Gene	Cis/trans	Tissue	Source
rs11211252	CCDC163P	cis	Artery Tibial	GTEx
rs11211252	CCDC163P	cis	Esophagus Mucosa	GTEx
rs11211252	CCDC163P	cis	Esophagus Muscularis	GTEx
rs11211252	CCDC163P	cis	Artery Aorta	GTEx
rs11211252	MAST2	cis	Artery Tibial	GTEx
rs11211252	CCDC163P	cis	Stomach	GTEx
rs11211252	CCDC163P	cis	lung	GTEx
rs11211252	CCDC163P	cis	Heart Left Ventricle	GTEx
rs11211252	LOC126661	Cis_1M	lymphoblastoid	RTeQTL
rs11211252	CCDC163P	cis	Whole Blood	GTEx
rs11211252	IPP	Cis_1M	lymphoblastoid	RTeQTL
rs11211252	CCDC163P	cis	Thyroid	GTEx
rs11211252	MAST2	cis	Artery Aorta	GTEx
rs11211252	CCDC163P	cis	Muscle Skeletal	GTEx
rs11211252	CCDC163P	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:46501400-46548200	Weak transcription	Aorta	Aorta
2	chr1:46503400-46535600	Weak transcription	Brain Anterior Caudate	brain
3	chr1:46505400-46531000	Weak transcription	HUVEC	blood vessel
4	chr1:46505600-46537600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr1:46506000-46549400	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr1:46508400-46536200	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr1:46508400-46546600	Weak transcription	HSMMtube	muscle
8	chr1:46508800-46534200	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr1:46508800-46537400	Weak transcription	HMEC	breast
10	chr1:46509600-46540200	Weak transcription	Spleen	Spleen
11	chr1:46510400-46531000	Weak transcription	Primary B cells from cord blood	blood
12	chr1:46510400-46548400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr1:46518200-46551600	Weak transcription	Psoas Muscle	Psoas
14	chr1:46520000-46531200	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr1:46522000-46532800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr1:46522200-46530600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr1:46522600-46530600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr1:46522600-46531000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr1:46524000-46538000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr1:46524800-46535400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr1:46524800-46547000	Weak transcription	Lung	lung
22	chr1:46525200-46530400	Weak transcription	Primary T cells from cord blood	blood
23	chr1:46525200-46532800	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr1:46525200-46543000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr1:46525400-46548800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr1:46525600-46532200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr1:46525600-46552600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr1:46526600-46531400	Strong transcription	Left Ventricle	heart
29	chr1:46527400-46531400	Weak transcription	NH-A	brain
30	chr1:46527400-46534800	Weak transcription	Fetal Stomach	stomach
31	chr1:46527600-46530600	Weak transcription	Fetal Brain Male	brain
32	chr1:46527600-46531000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr1:46527600-46531000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr1:46527600-46531200	Weak transcription	Primary hematopoietic stem cells	blood
35	chr1:46527600-46533200	Weak transcription	Fetal Kidney	kidney
36	chr1:46527600-46534200	Weak transcription	Fetal Lung	lung
37	chr1:46527600-46534200	Weak transcription	Fetal Muscle Leg	muscle
38	chr1:46527600-46535200	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr1:46527600-46536200	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr1:46527600-46542400	Weak transcription	Stomach Smooth Muscle	stomach
41	chr1:46527600-46543400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr1:46527800-46531200	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr1:46527800-46531400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr1:46527800-46534200	Weak transcription	Fetal Brain Female	brain
45	chr1:46527800-46535600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr1:46527800-46537000	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr1:46527800-46537600	Weak transcription	Brain Germinal Matrix	brain
48	chr1:46527800-46537800	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr1:46527800-46543000	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr1:46527800-46546400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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