Variant report

Variant	rs1133814
Chromosome Location	chr1:169364014-169364015
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:169362820..169365561-chr1:169453442..169455657,2	K562	blood:
2	chr1:169363269..169365266-chr1:169367448..169370534,3	K562	blood:

Variant related genes	Relation type
ENSG00000213062	Chromatin interaction
ENSG00000117479	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10429893	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10465575	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10465576	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10489189	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10800435	0.83[AMR][1000 genomes]
rs10800438	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10800440	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10919168	0.81[ASN][1000 genomes]
rs10919174	0.82[AMR][1000 genomes]
rs1124843	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12029566	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12076993	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1208134	0.81[ASN][1000 genomes]
rs1208135	0.81[ASN][1000 genomes]
rs1400836	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1517744	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs1517747	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs1914505	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2003653	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2138898	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2176473	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3820059	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3905328	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4656183	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4656672	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6427187	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6656822	0.82[AMR][1000 genomes]
rs6669901	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6700375	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7415756	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7535765	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7544221	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7554689	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs760603	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs925892	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs932301	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv10418	chr1:169059628-169621268	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv872531	chr1:169191860-169388193	Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv831871	chr1:169320673-169486680	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs1133814	NME7	cis	Thyroid	GTEx
rs1133814	NME7	cis	Artery Tibial	GTEx
rs1133814	NME7	Cis_1M	lymphoblastoid	RTeQTL
rs1133814	NME7	cis	Esophagus Muscularis	GTEx

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:169338000-169365200	Weak transcription	Gastric	stomach
2	chr1:169338000-169365600	Weak transcription	Pancreas	Pancrea
3	chr1:169338200-169369000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr1:169340400-169366000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr1:169341200-169367400	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr1:169344800-169365400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr1:169345000-169366000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr1:169345400-169366000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
9	chr1:169345600-169366000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr1:169345800-169365000	Strong transcription	Duodenum Smooth Muscle	Duodenum
11	chr1:169345800-169365400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr1:169345800-169366000	Strong transcription	Placenta	Placenta
13	chr1:169345800-169366400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr1:169346600-169365400	Weak transcription	HepG2	liver
15	chr1:169349400-169364600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr1:169349400-169366000	Strong transcription	Adipose Nuclei	Adipose
17	chr1:169349400-169367400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr1:169350200-169366800	Weak transcription	HSMMtube	muscle
19	chr1:169350200-169368600	Weak transcription	Colonic Mucosa	Colon
20	chr1:169351800-169364600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr1:169352600-169365200	Weak transcription	Spleen	Spleen
22	chr1:169352800-169367400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr1:169353000-169365200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr1:169353000-169369800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr1:169354000-169364400	Weak transcription	Brain Cingulate Gyrus	brain
26	chr1:169354000-169370000	Weak transcription	Aorta	Aorta
27	chr1:169354800-169370600	Weak transcription	Fetal Kidney	kidney
28	chr1:169356200-169365400	Strong transcription	Duodenum Mucosa	Duodenum
29	chr1:169357000-169368200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr1:169358000-169365600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr1:169358200-169364800	Strong transcription	Fetal Lung	lung
32	chr1:169358200-169368000	Weak transcription	Esophagus	oesophagus
33	chr1:169358600-169364200	Strong transcription	Primary B cells from cord blood	blood
34	chr1:169359000-169365200	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr1:169359200-169365000	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr1:169359200-169366800	Weak transcription	Fetal Brain Male	brain
37	chr1:169359200-169368400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr1:169359600-169366000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr1:169359600-169369800	Weak transcription	NHDF-Ad	bronchial
40	chr1:169360000-169364600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr1:169360400-169366000	Weak transcription	GM12878-XiMat	blood
42	chr1:169360600-169365400	Weak transcription	K562	blood
43	chr1:169360600-169365800	Weak transcription	HUVEC	blood vessel
44	chr1:169360600-169366200	Weak transcription	A549	lung
45	chr1:169360600-169372200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr1:169360800-169364800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr1:169360800-169365400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr1:169360800-169366200	Weak transcription	Primary T helper cells PMA-I stimulated	--
49	chr1:169360800-169367400	Weak transcription	H1 Cell Line	embryonic stem cell
50	chr1:169360800-169367800	Weak transcription	Psoas Muscle	Psoas

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