Variant report

Variant	rs1060724
Chromosome Location	chr12:66740444-66740445
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	chr12:66704984..66707430-chr12:66740010..66742020,2	K562	blood:

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

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

rs_ID	r²[population]
rs1027399	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1027400	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1027401	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1039056	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10784525	0.88[EUR][1000 genomes]
rs1168290	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1168291	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1168292	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1168293	0.97[EUR][1000 genomes]
rs1168294	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1168295	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1168296	0.98[EUR][1000 genomes]
rs1168297	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1168298	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1168299	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1168300	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1168301	0.98[EUR][1000 genomes]
rs1168302	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1168303	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1168304	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1168305	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1168306	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1168307	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1168308	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1168309	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1168310	0.97[EUR][1000 genomes]
rs1168311	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1168314	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1168315	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1168316	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1168317	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1168318	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1168319	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1168320	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1168321	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1168322	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1168325	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1168327	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1168328	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1168329	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1168330	0.93[EUR][1000 genomes]
rs1168332	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1168333	0.95[EUR][1000 genomes]
rs1168334	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1168338	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1168339	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1168340	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1168341	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1168342	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1168343	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1168344	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1168345	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1168346	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1168347	0.94[EUR][1000 genomes]
rs1168348	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1168351	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1168352	0.97[EUR][1000 genomes]
rs1168353	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1168356	0.97[EUR][1000 genomes]
rs1168357	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1168358	0.97[EUR][1000 genomes]
rs1177555	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1179889	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1183272	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1183274	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1184551	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1184552	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1185244	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1495497	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1795527	0.87[EUR][1000 genomes]
rs1795529	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2172881	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2951656	0.96[EUR][1000 genomes]
rs4762091	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61925898	0.84[EUR][1000 genomes]
rs6581677	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6581678	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs903587	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs903589	0.97[EUR][1000 genomes]
rs903590	0.97[EUR][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
rs1060724	HELB	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:83 , 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	chr12:66732800-66740600	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr12:66735000-66742000	Weak transcription	Psoas Muscle	Psoas
9	chr12:66735000-66751200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr12:66735200-66741200	Weak transcription	Brain Germinal Matrix	brain
11	chr12:66735200-66742200	Weak transcription	Fetal Thymus	thymus
12	chr12:66735600-66742800	Weak transcription	Placenta	Placenta
13	chr12:66735600-66745800	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr12:66735600-66747600	Weak transcription	Gastric	stomach
15	chr12:66735600-66751400	Weak transcription	Esophagus	oesophagus
16	chr12:66735600-66752800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr12:66735600-66755000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr12:66735800-66740600	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr12:66735800-66740800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr12:66735800-66741000	Weak transcription	Fetal Muscle Trunk	muscle
21	chr12:66735800-66741200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr12:66735800-66742200	Weak transcription	Liver	Liver
23	chr12:66735800-66747200	Weak transcription	Colonic Mucosa	Colon
24	chr12:66735800-66749800	Weak transcription	Spleen	Spleen
25	chr12:66735800-66750400	Weak transcription	Duodenum Mucosa	Duodenum
26	chr12:66735800-66751000	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr12:66735800-66754600	Weak transcription	Adipose Nuclei	Adipose
28	chr12:66735800-66759800	Weak transcription	Thymus	Thymus
29	chr12:66736000-66742200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr12:66736000-66742200	Weak transcription	GM12878-XiMat	blood
31	chr12:66736000-66744400	Weak transcription	Primary B cells from peripheral blood	blood
32	chr12:66736000-66744400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr12:66736000-66746600	Weak transcription	Fetal Muscle Leg	muscle
34	chr12:66736000-66751000	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr12:66736000-66766400	Weak transcription	Stomach Smooth Muscle	stomach
36	chr12:66736200-66741000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr12:66736200-66741800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr12:66736200-66745600	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr12:66736200-66746600	Weak transcription	Fetal Lung	lung
40	chr12:66736400-66742200	Weak transcription	Fetal Intestine Large	intestine
41	chr12:66736400-66745800	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr12:66736600-66759600	Weak transcription	Primary neutrophils fromperipheralblood	blood
43	chr12:66736800-66741800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr12:66736800-66744400	Weak transcription	Left Ventricle	heart
45	chr12:66737000-66744000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
46	chr12:66737200-66742800	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr12:66737200-66746000	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr12:66737200-66746600	Weak transcription	Pancreas	Pancrea
49	chr12:66737200-66748000	Weak transcription	Brain Hippocampus Middle	brain
50	chr12:66737200-66749200	Weak transcription	Lung	lung

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