Variant report

Variant	rs1168296
Chromosome Location	chr12:66734447-66734448
allele	C/T
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	0.90[EUR][1000 genomes]
rs1027400	0.93[EUR][1000 genomes]
rs1027401	0.93[EUR][1000 genomes]
rs1039056	0.93[EUR][1000 genomes]
rs1060724	0.98[EUR][1000 genomes]
rs10784525	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1168290	0.92[EUR][1000 genomes]
rs1168291	0.98[EUR][1000 genomes]
rs1168292	0.98[EUR][1000 genomes]
rs1168293	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1168294	0.98[EUR][1000 genomes]
rs1168295	0.96[EUR][1000 genomes]
rs1168297	0.97[EUR][1000 genomes]
rs1168298	0.98[EUR][1000 genomes]
rs1168299	0.96[EUR][1000 genomes]
rs1168300	0.98[EUR][1000 genomes]
rs1168301	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1168302	0.97[EUR][1000 genomes]
rs1168303	0.98[EUR][1000 genomes]
rs1168304	0.98[EUR][1000 genomes]
rs1168305	0.98[EUR][1000 genomes]
rs1168306	0.98[EUR][1000 genomes]
rs1168307	0.96[EUR][1000 genomes]
rs1168308	0.98[EUR][1000 genomes]
rs1168309	0.96[EUR][1000 genomes]
rs1168310	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1168311	0.98[EUR][1000 genomes]
rs1168314	0.95[EUR][1000 genomes]
rs1168315	0.95[EUR][1000 genomes]
rs1168316	0.95[EUR][1000 genomes]
rs1168317	0.95[EUR][1000 genomes]
rs1168318	0.96[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	0.95[EUR][1000 genomes]
rs1168327	0.99[EUR][1000 genomes]
rs1168328	0.96[EUR][1000 genomes]
rs1168329	0.97[EUR][1000 genomes]
rs1168330	0.93[EUR][1000 genomes]
rs1168332	0.94[EUR][1000 genomes]
rs1168333	0.83[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs1168334	0.94[EUR][1000 genomes]
rs1168338	0.90[EUR][1000 genomes]
rs1168339	0.90[EUR][1000 genomes]
rs1168340	0.89[EUR][1000 genomes]
rs1168341	0.90[EUR][1000 genomes]
rs1168342	0.90[EUR][1000 genomes]
rs1168343	0.94[EUR][1000 genomes]
rs1168344	0.94[EUR][1000 genomes]
rs1168345	0.94[EUR][1000 genomes]
rs1168346	0.94[EUR][1000 genomes]
rs1168347	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1168348	0.91[EUR][1000 genomes]
rs1168351	0.95[EUR][1000 genomes]
rs1168352	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1168353	0.93[EUR][1000 genomes]
rs1168356	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1168357	0.95[EUR][1000 genomes]
rs1168358	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1177555	0.99[EUR][1000 genomes]
rs1179889	0.88[EUR][1000 genomes]
rs1183272	0.96[EUR][1000 genomes]
rs1183274	0.99[EUR][1000 genomes]
rs1184551	0.96[EUR][1000 genomes]
rs1184552	0.85[EUR][1000 genomes]
rs1185244	0.98[EUR][1000 genomes]
rs1495497	0.91[EUR][1000 genomes]
rs1795527	0.87[EUR][1000 genomes]
rs1795529	0.82[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs2172881	0.90[EUR][1000 genomes]
rs2951656	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4762091	0.95[EUR][1000 genomes]
rs61925898	0.83[EUR][1000 genomes]
rs6581677	0.92[EUR][1000 genomes]
rs6581678	0.86[EUR][1000 genomes]
rs903587	0.95[EUR][1000 genomes]
rs903589	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs903590	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs961049	0.86[AFR][1000 genomes];0.95[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
rs1168296	HELB	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:66697200-66734800	Weak transcription	Esophagus	oesophagus
2	chr12:66697200-66735000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr12:66697200-66742200	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr12:66697400-66735000	Weak transcription	Right Ventricle	heart
5	chr12:66698200-66735000	Weak transcription	Fetal Brain Female	brain
6	chr12:66698400-66734800	Weak transcription	HepG2	liver
7	chr12:66699000-66735000	Weak transcription	K562	blood
8	chr12:66702600-66734800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr12:66704200-66735000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr12:66704400-66741800	Weak transcription	Hela-S3	cervix
11	chr12:66705800-66734800	Weak transcription	Fetal Stomach	stomach
12	chr12:66710200-66792800	Weak transcription	Fetal Kidney	kidney
13	chr12:66715600-66734800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr12:66715600-66736600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr12:66716600-66734800	Weak transcription	NH-A	brain
16	chr12:66721400-66734800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr12:66722600-66735000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr12:66723200-66734800	Weak transcription	Brain Hippocampus Middle	brain
19	chr12:66724000-66735000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr12:66724200-66734800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr12:66724200-66745400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr12:66724600-66734800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr12:66725400-66734600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr12:66725400-66735400	Weak transcription	Colonic Mucosa	Colon
25	chr12:66725400-66746400	Weak transcription	Small Intestine	intestine
26	chr12:66725600-66742800	Weak transcription	Colon Smooth Muscle	Colon
27	chr12:66725800-66734600	Weak transcription	Gastric	stomach
28	chr12:66726200-66734600	Weak transcription	Placenta	Placenta
29	chr12:66726200-66734600	Weak transcription	Thymus	Thymus
30	chr12:66726200-66735000	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr12:66726600-66735000	Weak transcription	GM12878-XiMat	blood
32	chr12:66726800-66734800	Weak transcription	Fetal Intestine Large	intestine
33	chr12:66729000-66734600	Strong transcription	Primary T helper cells fromperipheralblood	blood
34	chr12:66729400-66734800	Strong transcription	Primary T cells fromperipheralblood	blood
35	chr12:66730000-66735000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr12:66730000-66735000	Strong transcription	Monocytes-CD14+_RO01746	blood
37	chr12:66730200-66735000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr12:66730200-66736000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr12:66730200-66737000	Strong transcription	Primary T helper naive cells from peripheral blood	blood
40	chr12:66730400-66734800	Strong transcription	Fetal Thymus	thymus
41	chr12:66730400-66735000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr12:66730600-66734600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
43	chr12:66731200-66734800	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr12:66731200-66735000	Strong transcription	HUES6 Cell Line	embryonic stem cell
45	chr12:66731600-66736000	Strong transcription	Primary neutrophils fromperipheralblood	blood
46	chr12:66732400-66734600	Strong transcription	Primary T killer memory cells from peripheral blood	blood
47	chr12:66732400-66735800	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr12:66732400-66735800	Strong transcription	Rectal Smooth Muscle	rectum
49	chr12:66732400-66737400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
50	chr12:66732400-66739200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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