Variant report

Variant	rs11844036
Chromosome Location	chr14:31830706-31830707
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 51 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10130574	0.95[EUR][1000 genomes]
rs10132752	0.95[EUR][1000 genomes]
rs10134212	1.00[CEU][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs10145767	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10147468	1.00[CEU][hapmap];1.00[GIH][hapmap];0.81[MEX][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes]
rs10149123	1.00[EUR][1000 genomes]
rs11156667	0.86[YRI][hapmap]
rs11156668	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11850326	1.00[CEU][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12586712	1.00[CEU][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12885363	1.00[CEU][hapmap];1.00[GIH][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12886557	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17097806	0.80[CHB][hapmap];0.86[JPT][hapmap]
rs17097814	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs2094131	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2182256	1.00[CEU][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2378851	0.86[EUR][1000 genomes]
rs2378852	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2378853	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2378857	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2378860	0.83[ASW][hapmap]
rs28396248	0.95[EUR][1000 genomes]
rs28505754	0.95[EUR][1000 genomes]
rs28738723	0.95[EUR][1000 genomes]
rs28791187	1.00[EUR][1000 genomes]
rs3736918	1.00[CEU][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3887865	1.00[CEU][hapmap];1.00[GIH][hapmap];0.81[MEX][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4595710	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4981093	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4981838	1.00[CEU][hapmap];0.86[JPT][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4981840	1.00[CEU][hapmap];0.86[JPT][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs5025288	1.00[CEU][hapmap];1.00[GIH][hapmap];0.81[MEX][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6571408	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6571409	1.00[CEU][hapmap];0.86[JPT][hapmap]
rs7148963	0.83[ASN][1000 genomes]
rs7149420	0.90[EUR][1000 genomes]
rs7151378	1.00[CEU][hapmap];0.86[JPT][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7156569	1.00[CEU][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7158257	1.00[CEU][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7159084	0.86[EUR][1000 genomes]
rs7160175	1.00[CEU][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7161078	1.00[CEU][hapmap];0.84[JPT][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs8005648	0.94[CHB][hapmap];0.93[JPT][hapmap];0.82[YRI][hapmap]
rs8007411	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs8008358	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs8012940	1.00[CEU][hapmap];0.95[GIH][hapmap];0.86[JPT][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs8016487	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs942907	1.00[CEU][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2830427	chr14:31639110-32000034	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv1050597	chr14:31711248-31904761	Strong transcription Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv901589	chr14:31768231-31944723	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11844036	TFAP2B	trans	lymphoblastoid	seeQTL

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31771000-31888800	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr14:31782200-31875200	Weak transcription	Gastric	stomach
3	chr14:31799800-31866800	Weak transcription	Esophagus	oesophagus
4	chr14:31800200-31839800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr14:31800400-31838200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr14:31801200-31883800	Weak transcription	Small Intestine	intestine
7	chr14:31801400-31862800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr14:31801400-31875600	Weak transcription	Brain Germinal Matrix	brain
9	chr14:31801600-31872400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr14:31801800-31862600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr14:31802400-31842800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr14:31802800-31872000	Weak transcription	Fetal Brain Male	brain
13	chr14:31803600-31833000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr14:31803600-31872600	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr14:31803800-31843600	Weak transcription	A549	lung
16	chr14:31803800-31852200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr14:31805600-31851800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr14:31806200-31850800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr14:31808000-31872600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr14:31809600-31872000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr14:31811800-31854600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr14:31812200-31857400	Weak transcription	Fetal Heart	heart
23	chr14:31812800-31852400	Weak transcription	Brain Angular Gyrus	brain
24	chr14:31813200-31872800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr14:31814600-31849200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr14:31815200-31839600	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr14:31816000-31888800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr14:31816200-31837200	Weak transcription	Brain Cingulate Gyrus	brain
29	chr14:31817000-31837400	Weak transcription	Primary T cells from cord blood	blood
30	chr14:31824600-31846000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr14:31825400-31833400	Weak transcription	Thymus	Thymus
32	chr14:31825400-31840800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr14:31825400-31847200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr14:31825600-31840800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr14:31825600-31841000	Weak transcription	Primary T helper cells PMA-I stimulated	--
36	chr14:31825600-31872800	Weak transcription	Fetal Kidney	kidney
37	chr14:31825600-31878600	Weak transcription	Pancreas	Pancrea
38	chr14:31825800-31832800	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr14:31825800-31843600	Weak transcription	Primary B cells from peripheral blood	blood
40	chr14:31825800-31860200	Weak transcription	Psoas Muscle	Psoas
41	chr14:31826600-31836000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
42	chr14:31826600-31840600	Strong transcription	Primary neutrophils fromperipheralblood	blood
43	chr14:31826600-31847000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr14:31826800-31839600	Weak transcription	GM12878-XiMat	blood
45	chr14:31827000-31833000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr14:31827000-31840800	Strong transcription	Monocytes-CD14+_RO01746	blood
47	chr14:31827000-31841000	Strong transcription	Primary monocytes fromperipheralblood	blood
48	chr14:31827000-31847200	Strong transcription	Adipose Nuclei	Adipose
49	chr14:31827400-31831200	Weak transcription	Fetal Intestine Small	intestine
50	chr14:31827400-31831600	Weak transcription	Aorta	Aorta

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