Variant report

Variant	rs1168293
Chromosome Location	chr12:66733904-66733905
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 83 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:81)

rs_ID	r²[population]
rs1027399	0.91[EUR][1000 genomes]
rs1027400	0.93[EUR][1000 genomes]
rs1027401	0.94[EUR][1000 genomes]
rs1039056	0.94[EUR][1000 genomes]
rs1060724	0.97[EUR][1000 genomes]
rs10784525	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1168290	0.93[EUR][1000 genomes]
rs1168291	0.96[EUR][1000 genomes]
rs1168292	0.97[EUR][1000 genomes]
rs1168294	0.96[EUR][1000 genomes]
rs1168295	0.95[EUR][1000 genomes]
rs1168296	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1168297	0.97[EUR][1000 genomes]
rs1168298	0.96[EUR][1000 genomes]
rs1168299	0.97[EUR][1000 genomes]
rs1168300	0.96[EUR][1000 genomes]
rs1168301	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1168302	0.98[EUR][1000 genomes]
rs1168303	0.96[EUR][1000 genomes]
rs1168304	0.96[EUR][1000 genomes]
rs1168305	0.96[EUR][1000 genomes]
rs1168306	0.97[EUR][1000 genomes]
rs1168307	0.96[EUR][1000 genomes]
rs1168308	0.97[EUR][1000 genomes]
rs1168309	0.97[EUR][1000 genomes]
rs1168310	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1168311	0.97[EUR][1000 genomes]
rs1168314	0.96[EUR][1000 genomes]
rs1168315	0.96[EUR][1000 genomes]
rs1168316	0.95[EUR][1000 genomes]
rs1168317	0.95[EUR][1000 genomes]
rs1168318	0.95[EUR][1000 genomes]
rs1168319	0.95[EUR][1000 genomes]
rs1168320	0.95[EUR][1000 genomes]
rs1168321	0.95[EUR][1000 genomes]
rs1168322	0.95[EUR][1000 genomes]
rs1168325	0.94[EUR][1000 genomes]
rs1168327	0.98[EUR][1000 genomes]
rs1168328	0.97[EUR][1000 genomes]
rs1168329	0.98[EUR][1000 genomes]
rs1168330	0.93[EUR][1000 genomes]
rs1168332	0.94[EUR][1000 genomes]
rs1168333	0.94[EUR][1000 genomes]
rs1168334	0.94[EUR][1000 genomes]
rs1168338	0.90[EUR][1000 genomes]
rs1168339	0.90[EUR][1000 genomes]
rs1168340	0.90[EUR][1000 genomes]
rs1168341	0.91[EUR][1000 genomes]
rs1168342	0.91[EUR][1000 genomes]
rs1168343	0.95[EUR][1000 genomes]
rs1168344	0.95[EUR][1000 genomes]
rs1168345	0.94[EUR][1000 genomes]
rs1168346	0.95[EUR][1000 genomes]
rs1168347	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1168348	0.92[EUR][1000 genomes]
rs1168351	0.95[EUR][1000 genomes]
rs1168352	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1168353	0.94[EUR][1000 genomes]
rs1168356	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1168357	0.96[EUR][1000 genomes]
rs1168358	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1177555	0.97[EUR][1000 genomes]
rs1179889	0.88[EUR][1000 genomes]
rs1183272	0.97[EUR][1000 genomes]
rs1183274	0.97[EUR][1000 genomes]
rs1184551	0.94[EUR][1000 genomes]
rs1184552	0.86[EUR][1000 genomes]
rs1185244	0.97[EUR][1000 genomes]
rs1495497	0.92[EUR][1000 genomes]
rs1795527	0.85[EUR][1000 genomes]
rs1795529	0.91[EUR][1000 genomes]
rs2172881	0.90[EUR][1000 genomes]
rs2951656	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4762091	0.96[EUR][1000 genomes]
rs61925898	0.84[EUR][1000 genomes]
rs6581677	0.92[EUR][1000 genomes]
rs6581678	0.87[EUR][1000 genomes]
rs903587	0.95[EUR][1000 genomes]
rs903589	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs903590	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs961049	0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1052503	chr12:66293898-67269495	Weak transcription Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv541515	chr12:66293898-67269495	Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1168293	HELB	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:66696800-66734200	Weak transcription	HSMMtube	muscle
2	chr12:66697200-66734800	Weak transcription	Esophagus	oesophagus
3	chr12:66697200-66735000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr12:66697200-66742200	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr12:66697400-66735000	Weak transcription	Right Ventricle	heart
6	chr12:66698200-66735000	Weak transcription	Fetal Brain Female	brain
7	chr12:66698400-66734800	Weak transcription	HepG2	liver
8	chr12:66699000-66735000	Weak transcription	K562	blood
9	chr12:66702600-66734800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr12:66704200-66735000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr12:66704400-66741800	Weak transcription	Hela-S3	cervix
12	chr12:66705800-66734800	Weak transcription	Fetal Stomach	stomach
13	chr12:66710200-66792800	Weak transcription	Fetal Kidney	kidney
14	chr12:66715600-66734800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr12:66715600-66736600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr12:66716600-66734800	Weak transcription	NH-A	brain
17	chr12:66721400-66734800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr12:66722600-66735000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr12:66723200-66734800	Weak transcription	Brain Hippocampus Middle	brain
20	chr12:66723800-66734000	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr12:66724000-66735000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr12:66724200-66734800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr12:66724200-66745400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr12:66724600-66734800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr12:66725400-66734600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr12:66725400-66735400	Weak transcription	Colonic Mucosa	Colon
27	chr12:66725400-66746400	Weak transcription	Small Intestine	intestine
28	chr12:66725600-66742800	Weak transcription	Colon Smooth Muscle	Colon
29	chr12:66725800-66734600	Weak transcription	Gastric	stomach
30	chr12:66726200-66734200	Weak transcription	Fetal Muscle Leg	muscle
31	chr12:66726200-66734400	Weak transcription	Spleen	Spleen
32	chr12:66726200-66734600	Weak transcription	Placenta	Placenta
33	chr12:66726200-66734600	Weak transcription	Thymus	Thymus
34	chr12:66726200-66735000	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr12:66726400-66734000	Weak transcription	Brain Germinal Matrix	brain
36	chr12:66726600-66734400	Weak transcription	Pancreas	Pancrea
37	chr12:66726600-66735000	Weak transcription	GM12878-XiMat	blood
38	chr12:66726800-66734800	Weak transcription	Fetal Intestine Large	intestine
39	chr12:66729000-66734000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr12:66729000-66734600	Strong transcription	Primary T helper cells fromperipheralblood	blood
41	chr12:66729400-66734800	Strong transcription	Primary T cells fromperipheralblood	blood
42	chr12:66730000-66735000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr12:66730000-66735000	Strong transcription	Monocytes-CD14+_RO01746	blood
44	chr12:66730200-66735000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr12:66730200-66736000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr12:66730200-66737000	Strong transcription	Primary T helper naive cells from peripheral blood	blood
47	chr12:66730400-66734200	Strong transcription	Primary B cells from cord blood	blood
48	chr12:66730400-66734800	Strong transcription	Fetal Thymus	thymus
49	chr12:66730400-66735000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr12:66730600-66734600	Strong transcription	Breast Myoepithelial Primary Cells	Breast

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