Variant report

Variant	rs17805748
Chromosome Location	chr12:104472121-104472122
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 53 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10507174	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10507175	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11111898	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12422505	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12423684	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12423844	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12424943	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12426862	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12427339	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12579268	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12582966	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12825521	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17035324	0.85[CHB][hapmap]
rs17192854	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17805766	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35142441	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3812800	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3850022	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs4129598	0.85[CEU][hapmap];0.85[CHB][hapmap]
rs4131750	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4131752	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4246264	0.85[CHB][hapmap]
rs4340124	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4545635	0.85[CHB][hapmap]
rs4614534	0.85[CEU][hapmap];0.85[CHB][hapmap]
rs4964219	0.87[ASN][1000 genomes]
rs4964260	0.85[CHB][hapmap]
rs4964627	0.86[CEU][hapmap];0.85[CHB][hapmap]
rs59079741	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59644448	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61647968	0.85[ASN][1000 genomes]
rs61937639	1.00[ASN][1000 genomes]
rs61937641	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61937642	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61939180	0.85[ASN][1000 genomes]
rs61939183	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61939188	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61939190	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61939192	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61939195	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61939196	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61939198	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61939199	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61939200	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61939201	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7132418	0.86[CEU][hapmap]
rs7294997	0.82[CEU][hapmap]
rs7299866	0.85[CEU][hapmap];0.85[CHB][hapmap]
rs73177987	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73177991	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7957725	0.86[CEU][hapmap]
rs7975161	0.85[CHB][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv427922	chr12:104325583-104523096	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17805748	NFYB	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104459200-104480600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr12:104459200-104480600	Weak transcription	Esophagus	oesophagus
3	chr12:104459400-104476600	Weak transcription	Fetal Kidney	kidney
4	chr12:104459600-104476600	Weak transcription	Primary hematopoietic stem cells	blood
5	chr12:104459600-104476600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr12:104459600-104481200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr12:104459800-104476600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr12:104459800-104476800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr12:104459800-104477400	Weak transcription	Gastric	stomach
10	chr12:104459800-104477600	Weak transcription	Small Intestine	intestine
11	chr12:104459800-104477800	Weak transcription	Spleen	Spleen
12	chr12:104459800-104491800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr12:104460000-104476000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr12:104460000-104476600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr12:104460000-104476600	Weak transcription	Brain Cingulate Gyrus	brain
16	chr12:104460000-104476600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr12:104460000-104476800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr12:104460000-104477600	Weak transcription	Aorta	Aorta
19	chr12:104460000-104482000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr12:104460000-104496800	Weak transcription	HepG2	liver
21	chr12:104460000-104511800	Weak transcription	Hela-S3	cervix
22	chr12:104460000-104526200	Weak transcription	Colonic Mucosa	Colon
23	chr12:104460200-104472600	Weak transcription	Fetal Heart	heart
24	chr12:104460200-104476600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr12:104460200-104476600	Weak transcription	NHEK	skin
26	chr12:104460600-104476600	Weak transcription	Brain Angular Gyrus	brain
27	chr12:104460600-104480600	Weak transcription	K562	blood
28	chr12:104460800-104472600	Weak transcription	Pancreas	Pancrea
29	chr12:104461200-104492800	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr12:104461400-104476600	Weak transcription	Fetal Brain Male	brain
31	chr12:104461800-104472800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr12:104461800-104476800	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr12:104462000-104476600	Weak transcription	Brain Hippocampus Middle	brain
34	chr12:104462600-104473600	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr12:104462600-104476800	Weak transcription	Rectal Smooth Muscle	rectum
36	chr12:104463000-104476600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
37	chr12:104463200-104472600	Weak transcription	HUVEC	blood vessel
38	chr12:104463200-104476600	Weak transcription	Brain Substantia Nigra	brain
39	chr12:104464400-104473600	Weak transcription	Primary B cells from peripheral blood	blood
40	chr12:104465200-104480000	Weak transcription	A549	lung
41	chr12:104465400-104472400	Weak transcription	Stomach Smooth Muscle	stomach
42	chr12:104465400-104472600	Weak transcription	Adipose Nuclei	Adipose
43	chr12:104465400-104474200	Weak transcription	NHLF	lung
44	chr12:104465600-104474200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr12:104465600-104475000	Weak transcription	Primary T helper cells PMA-I stimulated	--
46	chr12:104465600-104476200	Weak transcription	HMEC	breast
47	chr12:104465600-104477600	Weak transcription	GM12878-XiMat	blood
48	chr12:104465800-104472400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr12:104465800-104472400	Weak transcription	Liver	Liver
50	chr12:104466000-104472600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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