Variant report

Variant	rs3014212
Chromosome Location	chr1:46058425-46058426
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:45185937..45187486-chr1:46057167..46058837,2	K562	blood:
2	chr1:46056677..46058691-chr1:46065641..46067406,2	MCF-7	breast:

Extended variants
information (count: 196 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:188)

rs_ID	r²[population]
rs10430105	0.84[EUR][1000 genomes]
rs10430123	0.81[EUR][1000 genomes]
rs10430124	0.81[EUR][1000 genomes]
rs10749856	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10789467	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10789468	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10789470	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1084086	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10890333	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10890334	0.88[EUR][1000 genomes]
rs10890335	0.88[EUR][1000 genomes]
rs10890336	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10890337	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10890340	0.84[EUR][1000 genomes]
rs10890341	0.85[EUR][1000 genomes]
rs10890342	0.84[EUR][1000 genomes]
rs10890343	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10890344	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10890346	0.81[EUR][1000 genomes]
rs11211142	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11211145	0.89[EUR][1000 genomes]
rs11211146	0.89[EUR][1000 genomes]
rs11211147	0.89[EUR][1000 genomes]
rs11211149	0.89[EUR][1000 genomes]
rs11211151	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11211152	0.86[EUR][1000 genomes]
rs11211157	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11211158	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11211159	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11211161	0.85[EUR][1000 genomes]
rs11211162	0.85[EUR][1000 genomes]
rs11211163	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11211165	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11211166	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11211168	0.84[EUR][1000 genomes]
rs11211169	0.83[EUR][1000 genomes]
rs11211170	0.81[EUR][1000 genomes]
rs11211171	0.82[EUR][1000 genomes]
rs11211174	0.81[EUR][1000 genomes]
rs11211175	0.81[EUR][1000 genomes]
rs1135812	0.89[EUR][1000 genomes]
rs1135850	0.92[EUR][1000 genomes]
rs12022673	0.86[EUR][1000 genomes]
rs12023439	0.89[EUR][1000 genomes]
rs12024590	0.84[EUR][1000 genomes]
rs12025613	0.89[EUR][1000 genomes]
rs12027622	0.84[EUR][1000 genomes]
rs12031182	0.81[EUR][1000 genomes]
rs12037459	0.92[EUR][1000 genomes]
rs12037803	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12041197	0.89[EUR][1000 genomes]
rs12041677	0.84[EUR][1000 genomes]
rs12043945	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12045096	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12045451	0.91[EUR][1000 genomes]
rs12047629	0.85[EUR][1000 genomes]
rs12048866	0.86[EUR][1000 genomes]
rs12049027	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12070775	0.84[EUR][1000 genomes]
rs12081175	0.82[EUR][1000 genomes]
rs12091503	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1250	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12564201	0.81[EUR][1000 genomes]
rs1541131	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1547924	0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1547925	0.95[EUR][1000 genomes]
rs1972410	0.95[EUR][1000 genomes]
rs2050376	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2088102	0.81[ASN][1000 genomes]
rs2152078	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2230657	0.86[ASN][1000 genomes]
rs2230658	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2230659	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2253862	0.95[EUR][1000 genomes]
rs2275085	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2275086	0.94[EUR][1000 genomes]
rs28361459	0.83[EUR][1000 genomes]
rs28370457	0.82[EUR][1000 genomes]
rs28375469	0.82[EUR][1000 genomes]
rs28376548	0.80[EUR][1000 genomes]
rs28406914	0.83[EUR][1000 genomes]
rs28432365	0.83[EUR][1000 genomes]
rs28438704	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28441217	0.81[EUR][1000 genomes]
rs28442079	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28474773	0.83[EUR][1000 genomes]
rs28490344	0.82[EUR][1000 genomes]
rs28495425	0.83[EUR][1000 genomes]
rs28498557	0.80[EUR][1000 genomes]
rs28501477	0.82[EUR][1000 genomes]
rs28507722	0.81[EUR][1000 genomes]
rs28513660	0.81[EUR][1000 genomes]
rs28528139	0.83[EUR][1000 genomes]
rs28545085	0.81[EUR][1000 genomes]
rs28550303	0.82[EUR][1000 genomes]
rs28564319	0.83[EUR][1000 genomes]
rs28568986	0.81[EUR][1000 genomes]
rs28617418	0.81[EUR][1000 genomes]
rs28623463	0.82[EUR][1000 genomes]
rs28641748	0.80[EUR][1000 genomes]
rs28719889	0.82[EUR][1000 genomes]
rs28789495	0.83[EUR][1000 genomes]
rs28812624	0.81[EUR][1000 genomes]
rs28817701	0.83[EUR][1000 genomes]
rs28862324	0.82[EUR][1000 genomes]
rs28890893	0.82[EUR][1000 genomes]
rs2934857	0.85[ASN][1000 genomes]
rs2934858	0.85[ASN][1000 genomes]
rs2991976	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2991977	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2991978	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2991979	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2991980	0.82[AMR][1000 genomes]
rs2991981	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2991983	0.95[EUR][1000 genomes]
rs2991985	0.90[ASN][1000 genomes]
rs2991986	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2991987	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2991988	0.95[EUR][1000 genomes]
rs2991989	0.95[EUR][1000 genomes]
rs3013595	0.83[ASN][1000 genomes]
rs3013596	0.83[ASN][1000 genomes]
rs3013597	0.83[ASN][1000 genomes]
rs3014210	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3014213	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3014216	0.85[ASN][1000 genomes]
rs3014235	0.93[EUR][1000 genomes]
rs3014236	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3014237	0.92[EUR][1000 genomes]
rs3014238	0.88[ASN][1000 genomes]
rs3014239	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3014240	0.95[EUR][1000 genomes]
rs3014245	0.95[EUR][1000 genomes]
rs3014246	0.95[EUR][1000 genomes]
rs3014248	0.89[EUR][1000 genomes]
rs3014249	0.95[EUR][1000 genomes]
rs3014251	0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3811435	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3811436	0.84[EUR][1000 genomes]
rs3935296	0.82[EUR][1000 genomes]
rs4415615	0.84[EUR][1000 genomes]
rs4423054	0.82[EUR][1000 genomes]
rs4431884	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4439382	0.85[EUR][1000 genomes]
rs4468203	0.84[ASN][1000 genomes]
rs4559551	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4564187	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4586014	0.85[EUR][1000 genomes]
rs4607935	0.86[EUR][1000 genomes]
rs4609469	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4660312	0.84[ASN][1000 genomes]
rs4660313	0.89[EUR][1000 genomes]
rs4660879	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4660880	0.89[EUR][1000 genomes]
rs4660882	0.84[ASN][1000 genomes]
rs5021934	0.84[ASN][1000 genomes]
rs518216	0.88[ASN][1000 genomes]
rs563799	0.90[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs61062981	0.81[EUR][1000 genomes]
rs61784793	0.85[EUR][1000 genomes]
rs61784795	0.84[EUR][1000 genomes]
rs61784796	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61784799	0.82[EUR][1000 genomes]
rs61784800	0.81[EUR][1000 genomes]
rs61784803	0.82[EUR][1000 genomes]
rs6429574	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6429575	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs659437	0.88[ASN][1000 genomes]
rs6656279	0.83[ASN][1000 genomes]
rs6658700	0.85[EUR][1000 genomes]
rs6665808	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs66682726	0.84[EUR][1000 genomes]
rs6671802	0.83[ASN][1000 genomes]
rs6686944	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6690926	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6694889	0.89[EUR][1000 genomes]
rs6699418	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6699444	0.84[EUR][1000 genomes]
rs6703748	0.89[EUR][1000 genomes]
rs72688483	0.83[ASN][1000 genomes]
rs7529699	0.84[EUR][1000 genomes]
rs7545118	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7547414	0.95[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8179296	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8179402	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9429171	0.89[EUR][1000 genomes]
rs9429172	0.92[EUR][1000 genomes]
rs9793568	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530016	chr1:45868543-46069020	Flanking Active TSS Genic enhancers Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	149 gene(s)	inside rSNPs	diseases
2	nsv829726	chr1:45897581-46103186	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	148 gene(s)	inside rSNPs	diseases
3	nsv529631	chr1:45905936-46335246	Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	207 gene(s)	inside rSNPs	diseases
4	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
5	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
6	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
7	esv3342998	chr1:46035908-46066462	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
8	nsv1011587	chr1:46051672-46244492	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3014212	IPP	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:46050800-46060200	Weak transcription	Aorta	Aorta
2	chr1:46051400-46069800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr1:46051600-46060000	Weak transcription	HSMMtube	muscle
4	chr1:46051600-46060200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:46051800-46060000	Weak transcription	Fetal Kidney	kidney
6	chr1:46052000-46081000	Weak transcription	Small Intestine	intestine
7	chr1:46052200-46060000	Weak transcription	Esophagus	oesophagus
8	chr1:46052200-46063800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr1:46052200-46084200	Weak transcription	Right Atrium	heart
10	chr1:46052400-46059600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr1:46052400-46060200	Weak transcription	Colonic Mucosa	Colon
12	chr1:46052400-46060800	Weak transcription	Primary neutrophils fromperipheralblood	blood
13	chr1:46052400-46080600	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr1:46052600-46060200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr1:46052800-46058600	Weak transcription	HMEC	breast
16	chr1:46052800-46059200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr1:46052800-46060000	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr1:46052800-46060200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr1:46052800-46060200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr1:46052800-46060200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr1:46052800-46060200	Weak transcription	Ovary	ovary
22	chr1:46052800-46060400	Weak transcription	HUVEC	blood vessel
23	chr1:46052800-46065200	Strong transcription	Fetal Thymus	thymus
24	chr1:46052800-46066600	Weak transcription	NHDF-Ad	bronchial
25	chr1:46052800-46066800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr1:46052800-46067800	Weak transcription	NHLF	lung
27	chr1:46052800-46078400	Weak transcription	Brain Cingulate Gyrus	brain
28	chr1:46052800-46081000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr1:46052800-46086000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr1:46052800-46089200	Strong transcription	HUES6 Cell Line	embryonic stem cell
31	chr1:46052800-46099400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr1:46053000-46061000	Strong transcription	Fetal Intestine Small	intestine
33	chr1:46053000-46062400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
34	chr1:46053200-46059400	Weak transcription	Primary monocytes fromperipheralblood	blood
35	chr1:46053200-46059600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr1:46053200-46059600	Weak transcription	Spleen	Spleen
37	chr1:46053200-46127400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr1:46053400-46064400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr1:46053400-46066600	Strong transcription	HUES64 Cell Line	embryonic stem cell
40	chr1:46053600-46060200	Weak transcription	Pancreas	Pancrea
41	chr1:46053600-46086000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
42	chr1:46053800-46071800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr1:46055000-46062000	Strong transcription	K562	blood
44	chr1:46055000-46067000	Strong transcription	HUES48 Cell Line	embryonic stem cell
45	chr1:46055000-46085200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
46	chr1:46055200-46060000	Weak transcription	GM12878-XiMat	blood
47	chr1:46055200-46063400	Strong transcription	HepG2	liver
48	chr1:46055200-46090400	Strong transcription	Dnd41	blood
49	chr1:46055600-46059400	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr1:46055600-46065800	Strong transcription	H1 Cell Line	embryonic stem cell

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