Variant report

Variant	rs1168301
Chromosome Location	chr12:66736771-66736772
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];0.96[ASN][1000 genomes]
rs1168294	0.98[EUR][1000 genomes]
rs1168295	0.96[EUR][1000 genomes]
rs1168296	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][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]
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];0.95[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];0.96[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];0.94[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];0.94[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];0.97[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];0.92[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];0.99[ASN][1000 genomes]
rs903590	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[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
rs1168301	HELB	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:66697200-66742200	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr12:66704400-66741800	Weak transcription	Hela-S3	cervix
3	chr12:66710200-66792800	Weak transcription	Fetal Kidney	kidney
4	chr12:66724200-66745400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr12:66725400-66746400	Weak transcription	Small Intestine	intestine
6	chr12:66725600-66742800	Weak transcription	Colon Smooth Muscle	Colon
7	chr12:66730200-66737000	Strong transcription	Primary T helper naive cells from peripheral blood	blood
8	chr12:66732400-66737400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
9	chr12:66732400-66739200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr12:66732800-66740600	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr12:66733000-66737800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr12:66733600-66736800	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
13	chr12:66733800-66738800	ZNF genes & repeats	Dnd41	blood
14	chr12:66733800-66739600	Weak transcription	Fetal Heart	heart
15	chr12:66734200-66738200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
16	chr12:66734400-66736800	ZNF genes & repeats	Left Ventricle	heart
17	chr12:66734400-66737400	ZNF genes & repeats	Fetal Intestine Small	intestine
18	chr12:66734600-66737000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
19	chr12:66735000-66736800	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr12:66735000-66737200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
21	chr12:66735000-66742000	Weak transcription	Psoas Muscle	Psoas
22	chr12:66735000-66751200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr12:66735200-66737000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr12:66735200-66737200	ZNF genes & repeats	Brain Hippocampus Middle	brain
25	chr12:66735200-66738800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr12:66735200-66739000	Weak transcription	K562	blood
27	chr12:66735200-66741200	Weak transcription	Brain Germinal Matrix	brain
28	chr12:66735200-66742200	Weak transcription	Fetal Thymus	thymus
29	chr12:66735400-66737200	Strong transcription	Primary T helper cells PMA-I stimulated	--
30	chr12:66735400-66737200	Strong transcription	Rectal Mucosa Donor 29	rectum
31	chr12:66735600-66737000	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr12:66735600-66737000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
33	chr12:66735600-66737200	Weak transcription	Aorta	Aorta
34	chr12:66735600-66742800	Weak transcription	Placenta	Placenta
35	chr12:66735600-66745800	Strong transcription	Monocytes-CD14+_RO01746	blood
36	chr12:66735600-66747600	Weak transcription	Gastric	stomach
37	chr12:66735600-66751400	Weak transcription	Esophagus	oesophagus
38	chr12:66735600-66752800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr12:66735600-66755000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr12:66735800-66736800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr12:66735800-66737000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr12:66735800-66737000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr12:66735800-66737000	Weak transcription	Lung	lung
44	chr12:66735800-66737000	Weak transcription	Rectal Smooth Muscle	rectum
45	chr12:66735800-66737400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr12:66735800-66739400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr12:66735800-66740600	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr12:66735800-66740800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr12:66735800-66741000	Weak transcription	Fetal Muscle Trunk	muscle
50	chr12:66735800-66741200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood

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