Variant report

Variant	rs11070374
Chromosome Location	chr15:42851464-42851465
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 71 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs10454039	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1060291	0.90[CEU][hapmap];0.89[EUR][1000 genomes]
rs10851410	0.95[CEU][hapmap];0.95[EUR][1000 genomes]
rs10851411	0.90[CEU][hapmap];0.87[CHB][hapmap];0.94[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11022	0.95[CEU][hapmap];0.89[EUR][1000 genomes]
rs11631193	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11632169	0.83[CHB][hapmap]
rs11636577	0.80[CEU][hapmap]
rs11638208	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1197547	0.88[CHB][hapmap]
rs12102055	1.00[YRI][hapmap]
rs12324113	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12324717	0.95[CEU][hapmap];0.96[EUR][1000 genomes]
rs12594483	1.00[YRI][hapmap]
rs12594855	1.00[YRI][hapmap]
rs12903416	0.81[CHB][hapmap]
rs12903432	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12906497	1.00[YRI][hapmap]
rs12906697	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12913324	0.81[EUR][1000 genomes]
rs12917018	1.00[YRI][hapmap]
rs12917189	1.00[YRI][hapmap]
rs1667493	0.84[CHB][hapmap]
rs16957091	1.00[YRI][hapmap]
rs1705360	0.83[CHB][hapmap]
rs1900921	0.95[CEU][hapmap];0.89[EUR][1000 genomes]
rs1995939	1.00[YRI][hapmap]
rs2241827	1.00[YRI][hapmap]
rs2241998	0.95[CEU][hapmap];0.87[CHB][hapmap];0.88[JPT][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2255995	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2280048	1.00[YRI][hapmap]
rs2412711	1.00[YRI][hapmap]
rs2412741	1.00[YRI][hapmap]
rs2595939	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2595940	1.00[CEU][hapmap];0.87[CHB][hapmap];0.94[JPT][hapmap];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2595941	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2617236	1.00[CEU][hapmap];0.87[CHB][hapmap];0.94[JPT][hapmap];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28886308	0.82[EUR][1000 genomes]
rs2899051	0.85[CEU][hapmap];0.85[EUR][1000 genomes]
rs2899057	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3115883	1.00[YRI][hapmap]
rs3199486	1.00[YRI][hapmap]
rs34643746	0.96[EUR][1000 genomes]
rs3742987	1.00[YRI][hapmap]
rs3742988	1.00[YRI][hapmap]
rs3986280	0.95[CEU][hapmap];0.96[EUR][1000 genomes]
rs4447398	0.87[CHB][hapmap]
rs4573906	0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4923947	0.81[CHB][hapmap];0.83[JPT][hapmap];0.91[ASN][1000 genomes]
rs4923948	0.95[CEU][hapmap];0.88[EUR][1000 genomes]
rs4924684	0.89[EUR][1000 genomes]
rs4924690	1.00[YRI][hapmap]
rs56357092	0.89[EUR][1000 genomes]
rs60380503	0.88[EUR][1000 genomes]
rs6493054	0.88[CHB][hapmap]
rs6493060	1.00[YRI][hapmap]
rs6493061	1.00[YRI][hapmap]
rs7166373	1.00[YRI][hapmap]
rs7166775	1.00[YRI][hapmap]
rs7168835	1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs7169009	1.00[YRI][hapmap]
rs7169202	1.00[YRI][hapmap]
rs7174041	1.00[YRI][hapmap]
rs8027427	1.00[YRI][hapmap]
rs8033412	0.95[CEU][hapmap];0.89[EUR][1000 genomes]
rs8034447	1.00[YRI][hapmap]
rs8043472	1.00[YRI][hapmap]
rs876992	0.88[CHB][hapmap]
rs9302112	1.00[CEU][hapmap];0.87[CHB][hapmap];0.94[JPT][hapmap];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9783683	1.00[YRI][hapmap];0.83[AFR][1000 genomes]

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	nsv528725	chr15:42755555-43104406	Weak transcription Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11070374	TUBGCP4	cis	Skin Sun Exposed Lower leg	GTEx
rs11070374	CEP27	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:42841600-42851600	Weak transcription	Lung	lung
2	chr15:42841600-42852000	Weak transcription	Gastric	stomach
3	chr15:42841600-42853600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr15:42841600-42854200	Weak transcription	Aorta	Aorta
5	chr15:42841600-42854200	Weak transcription	Esophagus	oesophagus
6	chr15:42841600-42854200	Weak transcription	Spleen	Spleen
7	chr15:42841600-42866800	Weak transcription	Stomach Mucosa	stomach
8	chr15:42841800-42857000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr15:42841800-42867000	Weak transcription	Ovary	ovary
10	chr15:42842200-42853000	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr15:42842200-42854200	Weak transcription	Right Ventricle	heart
12	chr15:42842200-42856000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr15:42842200-42867000	Weak transcription	Psoas Muscle	Psoas
14	chr15:42842400-42851600	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr15:42842400-42851600	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr15:42842400-42851600	Weak transcription	Stomach Smooth Muscle	stomach
17	chr15:42842400-42851600	Weak transcription	NH-A	brain
18	chr15:42842400-42852000	Weak transcription	Rectal Smooth Muscle	rectum
19	chr15:42842400-42853400	Weak transcription	HSMM	muscle
20	chr15:42842400-42854600	Weak transcription	A549	lung
21	chr15:42842400-42867000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr15:42842600-42851600	Weak transcription	Colonic Mucosa	Colon
23	chr15:42842600-42851600	Weak transcription	Fetal Brain Male	brain
24	chr15:42842600-42851600	Weak transcription	NHDF-Ad	bronchial
25	chr15:42842600-42852000	Weak transcription	Fetal Lung	lung
26	chr15:42842600-42853000	Weak transcription	NHLF	lung
27	chr15:42842600-42855800	Weak transcription	Brain Anterior Caudate	brain
28	chr15:42842600-42867400	Weak transcription	Small Intestine	intestine
29	chr15:42842800-42851600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr15:42842800-42851600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr15:42842800-42851600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr15:42842800-42851600	Weak transcription	Osteobl	bone
33	chr15:42842800-42851800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr15:42842800-42851800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
35	chr15:42842800-42851800	Weak transcription	Brain Hippocampus Middle	brain
36	chr15:42842800-42853400	Weak transcription	Brain Angular Gyrus	brain
37	chr15:42842800-42853400	Weak transcription	Fetal Brain Female	brain
38	chr15:42842800-42853600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
39	chr15:42842800-42854200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr15:42842800-42854200	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr15:42842800-42857400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
42	chr15:42842800-42857400	Weak transcription	Brain Substantia Nigra	brain
43	chr15:42842800-42867000	Weak transcription	Fetal Kidney	kidney
44	chr15:42843000-42851600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr15:42843000-42863000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr15:42843600-42857400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
47	chr15:42846200-42851600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr15:42847000-42860000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr15:42848000-42861400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr15:42848600-42861200	Strong transcription	Fetal Intestine Large	intestine

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