Variant report

Variant	rs1168299
Chromosome Location	chr12:66736074-66736075
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CBX3	chr12:66735746-66736131	K562	blood:	n/a	n/a
2	SETDB1	chr12:66735807-66736140	U2OS	brain:	n/a	n/a

Variant related genes	Relation type
ENSG00000238528	TF binding region

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[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1027400	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1027401	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1039056	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1060724	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10784525	0.87[EUR][1000 genomes]
rs1168290	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1168291	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1168292	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1168293	0.97[EUR][1000 genomes]
rs1168294	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1168295	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1168296	0.96[EUR][1000 genomes]
rs1168297	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1168298	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1168300	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1168301	0.96[EUR][1000 genomes]
rs1168302	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1168303	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1168304	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1168305	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1168306	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1168307	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1168308	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1168309	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1168310	0.95[EUR][1000 genomes]
rs1168311	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1168314	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1168315	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1168316	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1168317	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1168318	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1168319	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1168320	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1168321	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1168322	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1168325	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1168327	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1168328	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1168329	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1168330	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1168332	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1168333	0.94[EUR][1000 genomes]
rs1168334	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1168338	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1168339	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1168340	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1168341	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1168342	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1168343	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1168344	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1168345	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1168346	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1168347	0.93[EUR][1000 genomes]
rs1168348	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1168351	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1168352	0.96[EUR][1000 genomes]
rs1168353	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1168356	0.96[EUR][1000 genomes]
rs1168357	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1168358	0.96[EUR][1000 genomes]
rs1177555	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1179889	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1183272	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1183274	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1184551	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1184552	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1185244	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1495497	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1795527	0.86[EUR][1000 genomes]
rs1795529	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2172881	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2951656	0.94[EUR][1000 genomes]
rs4762091	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61925898	0.86[EUR][1000 genomes]
rs6581677	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6581678	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs903587	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs903589	0.96[EUR][1000 genomes]
rs903590	0.96[EUR][1000 genomes]
rs961049	0.92[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
rs1168299	HELB	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:86 , 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	chr12:66715600-66736600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr12:66724200-66745400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr12:66725400-66746400	Weak transcription	Small Intestine	intestine
7	chr12:66725600-66742800	Weak transcription	Colon Smooth Muscle	Colon
8	chr12:66730200-66737000	Strong transcription	Primary T helper naive cells from peripheral blood	blood
9	chr12:66732400-66737400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
10	chr12:66732400-66739200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr12:66732800-66740600	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr12:66733000-66737800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr12:66733400-66736200	ZNF genes & repeats	Fetal Lung	lung
14	chr12:66733400-66736400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
15	chr12:66733600-66736200	ZNF genes & repeats	Primary T cells from cord blood	blood
16	chr12:66733600-66736200	ZNF genes & repeats	Brain Substantia Nigra	brain
17	chr12:66733600-66736800	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
18	chr12:66733800-66738800	ZNF genes & repeats	Dnd41	blood
19	chr12:66733800-66739600	Weak transcription	Fetal Heart	heart
20	chr12:66734200-66738200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
21	chr12:66734400-66736800	ZNF genes & repeats	Left Ventricle	heart
22	chr12:66734400-66737400	ZNF genes & repeats	Fetal Intestine Small	intestine
23	chr12:66734600-66737000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
24	chr12:66734800-66736200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr12:66734800-66736200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr12:66734800-66736400	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
27	chr12:66734800-66736400	ZNF genes & repeats	Fetal Intestine Large	intestine
28	chr12:66734800-66736600	Strong transcription	A549	lung
29	chr12:66735000-66736200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
30	chr12:66735000-66736800	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr12:66735000-66737200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
32	chr12:66735000-66742000	Weak transcription	Psoas Muscle	Psoas
33	chr12:66735000-66751200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
34	chr12:66735200-66737000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr12:66735200-66737200	ZNF genes & repeats	Brain Hippocampus Middle	brain
36	chr12:66735200-66738800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr12:66735200-66739000	Weak transcription	K562	blood
38	chr12:66735200-66741200	Weak transcription	Brain Germinal Matrix	brain
39	chr12:66735200-66742200	Weak transcription	Fetal Thymus	thymus
40	chr12:66735400-66736200	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
41	chr12:66735400-66737200	Strong transcription	Primary T helper cells PMA-I stimulated	--
42	chr12:66735400-66737200	Strong transcription	Rectal Mucosa Donor 29	rectum
43	chr12:66735600-66736400	Weak transcription	Fetal Brain Male	brain
44	chr12:66735600-66737000	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr12:66735600-66737000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
46	chr12:66735600-66737200	Weak transcription	Aorta	Aorta
47	chr12:66735600-66742800	Weak transcription	Placenta	Placenta
48	chr12:66735600-66745800	Strong transcription	Monocytes-CD14+_RO01746	blood
49	chr12:66735600-66747600	Weak transcription	Gastric	stomach
50	chr12:66735600-66751400	Weak transcription	Esophagus	oesophagus

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