Variant report

Variant	rs1168306
Chromosome Location	chr12:66738900-66738901
allele	C/T
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	GATA1	chr12:66738865-66740337	PBDE	blood:	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	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1027400	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1027401	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1039056	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1060724	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10784525	0.89[EUR][1000 genomes]
rs1168290	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1168291	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1168292	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1168293	0.97[EUR][1000 genomes]
rs1168294	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1168295	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1168296	0.98[EUR][1000 genomes]
rs1168297	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1168298	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1168299	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1168300	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1168301	0.98[EUR][1000 genomes]
rs1168302	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1168303	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1168304	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1168305	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1168307	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1168308	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1168309	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1168310	0.97[EUR][1000 genomes]
rs1168311	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1168314	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1168315	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1168316	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1168317	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1168318	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1168319	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1168320	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1168321	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1168322	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1168325	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1168327	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1168328	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1168329	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1168330	0.93[EUR][1000 genomes]
rs1168332	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1168333	0.95[EUR][1000 genomes]
rs1168334	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1168338	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1168339	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1168340	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1168341	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1168342	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1168343	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1168344	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1168345	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1168346	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1168347	0.95[EUR][1000 genomes]
rs1168348	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1168351	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1168352	0.98[EUR][1000 genomes]
rs1168353	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1168356	0.98[EUR][1000 genomes]
rs1168357	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1168358	0.98[EUR][1000 genomes]
rs1177555	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1179889	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1183272	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1183274	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1184551	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1184552	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1185244	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1495497	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1795527	0.87[EUR][1000 genomes]
rs1795529	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2172881	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2951656	0.96[EUR][1000 genomes]
rs4762091	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[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];0.87[EUR][1000 genomes]
rs903587	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs903589	0.98[EUR][1000 genomes]
rs903590	0.98[EUR][1000 genomes]
rs961049	0.94[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
rs1168306	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	chr12:66732400-66739200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr12:66732800-66740600	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr12:66733800-66739600	Weak transcription	Fetal Heart	heart
10	chr12:66735000-66742000	Weak transcription	Psoas Muscle	Psoas
11	chr12:66735000-66751200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr12:66735200-66739000	Weak transcription	K562	blood
13	chr12:66735200-66741200	Weak transcription	Brain Germinal Matrix	brain
14	chr12:66735200-66742200	Weak transcription	Fetal Thymus	thymus
15	chr12:66735600-66742800	Weak transcription	Placenta	Placenta
16	chr12:66735600-66745800	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr12:66735600-66747600	Weak transcription	Gastric	stomach
18	chr12:66735600-66751400	Weak transcription	Esophagus	oesophagus
19	chr12:66735600-66752800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr12:66735600-66755000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr12:66735800-66739400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr12:66735800-66740600	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr12:66735800-66740800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr12:66735800-66741000	Weak transcription	Fetal Muscle Trunk	muscle
25	chr12:66735800-66741200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr12:66735800-66742200	Weak transcription	Liver	Liver
27	chr12:66735800-66747200	Weak transcription	Colonic Mucosa	Colon
28	chr12:66735800-66749800	Weak transcription	Spleen	Spleen
29	chr12:66735800-66750400	Weak transcription	Duodenum Mucosa	Duodenum
30	chr12:66735800-66751000	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr12:66735800-66754600	Weak transcription	Adipose Nuclei	Adipose
32	chr12:66735800-66759800	Weak transcription	Thymus	Thymus
33	chr12:66736000-66739400	Weak transcription	Primary monocytes fromperipheralblood	blood
34	chr12:66736000-66742200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr12:66736000-66742200	Weak transcription	GM12878-XiMat	blood
36	chr12:66736000-66744400	Weak transcription	Primary B cells from peripheral blood	blood
37	chr12:66736000-66744400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr12:66736000-66746600	Weak transcription	Fetal Muscle Leg	muscle
39	chr12:66736000-66751000	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr12:66736000-66766400	Weak transcription	Stomach Smooth Muscle	stomach
41	chr12:66736200-66741000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr12:66736200-66741800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr12:66736200-66745600	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr12:66736200-66746600	Weak transcription	Fetal Lung	lung
45	chr12:66736400-66742200	Weak transcription	Fetal Intestine Large	intestine
46	chr12:66736400-66745800	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr12:66736600-66739600	Strong transcription	Duodenum Smooth Muscle	Duodenum
48	chr12:66736600-66759600	Weak transcription	Primary neutrophils fromperipheralblood	blood
49	chr12:66736800-66741800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr12:66736800-66744400	Weak transcription	Left Ventricle	heart

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