Variant report

Variant	rs11039074
Chromosome Location	chr11:47081732-47081733
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 117 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:115)

rs_ID	r²[population]
rs10466478	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10501319	0.90[CHB][hapmap];0.83[JPT][hapmap]
rs1055447	0.94[JPT][hapmap];0.87[ASN][1000 genomes]
rs1060573	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10742797	0.85[CHB][hapmap]
rs10769225	0.89[CHB][hapmap];0.84[JPT][hapmap]
rs10769226	0.90[CHB][hapmap];0.83[JPT][hapmap]
rs10769227	0.90[CHB][hapmap];0.89[JPT][hapmap]
rs10769230	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10769233	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10769234	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10769239	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10838635	0.90[CHB][hapmap];0.83[JPT][hapmap]
rs10838640	0.84[CHB][hapmap];0.84[JPT][hapmap]
rs10838644	0.90[CHB][hapmap];0.83[JPT][hapmap]
rs10838646	0.84[CHB][hapmap];0.84[JPT][hapmap]
rs10838652	0.90[CHB][hapmap];0.83[JPT][hapmap]
rs10838654	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10838658	0.89[CHB][hapmap];0.84[JPT][hapmap]
rs10838659	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10838660	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10838662	0.90[CHB][hapmap];0.83[JPT][hapmap]
rs10838663	0.90[CHB][hapmap];0.88[JPT][hapmap]
rs10838664	0.90[CHB][hapmap]
rs11039035	0.90[CHB][hapmap];0.83[JPT][hapmap]
rs11039086	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11039097	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11039105	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11039107	1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11039112	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11039119	0.94[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.89[ASN][1000 genomes]
rs11039124	0.86[ASN][1000 genomes]
rs11039134	0.80[ASN][1000 genomes]
rs11600292	0.90[CHB][hapmap];0.83[JPT][hapmap]
rs11600668	0.94[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11601798	0.84[CHB][hapmap];0.88[JPT][hapmap]
rs11602250	0.88[CHB][hapmap];0.84[JPT][hapmap]
rs12224096	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12273333	0.81[YRI][hapmap]
rs12291341	0.81[ASN][1000 genomes]
rs12417519	0.90[CHB][hapmap];0.83[JPT][hapmap]
rs12574410	0.94[CHB][hapmap];0.85[JPT][hapmap]
rs12796744	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12807887	0.86[ASN][1000 genomes]
rs17790204	0.90[CHB][hapmap];0.83[JPT][hapmap]
rs1872896	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1965952	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1976143	0.81[ASN][1000 genomes]
rs2018527	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2029298	0.94[CEU][hapmap];0.95[CHB][hapmap];0.81[JPT][hapmap];0.81[ASN][1000 genomes]
rs2087215	0.90[CHB][hapmap];0.83[JPT][hapmap]
rs2279438	0.90[CHB][hapmap]
rs2279439	0.90[CHB][hapmap]
rs4237547	0.81[ASN][1000 genomes]
rs4319472	0.94[CEU][hapmap];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4394802	0.85[CHB][hapmap];0.82[JPT][hapmap]
rs4494268	0.85[CHB][hapmap];0.83[JPT][hapmap]
rs4528282	0.89[CHB][hapmap];0.84[JPT][hapmap]
rs4548577	0.90[CHB][hapmap];0.83[JPT][hapmap]
rs4567413	0.94[CEU][hapmap];0.95[CHB][hapmap];0.81[JPT][hapmap];0.81[ASN][1000 genomes]
rs4579897	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4581406	0.90[CHB][hapmap];0.83[JPT][hapmap]
rs4587689	0.90[CHB][hapmap];0.83[JPT][hapmap]
rs4752815	0.90[CHB][hapmap];0.83[JPT][hapmap]
rs4752816	0.90[CHB][hapmap];0.83[JPT][hapmap]
rs4752951	0.84[CHB][hapmap]
rs4752952	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4752957	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4752962	0.94[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4752963	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4752965	0.90[CHB][hapmap];0.83[JPT][hapmap]
rs4752967	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4752969	0.90[CHB][hapmap];0.83[JPT][hapmap]
rs4752971	0.89[CEU][hapmap];0.86[ASN][1000 genomes]
rs57323109	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6485715	0.90[CHB][hapmap];0.83[JPT][hapmap]
rs6485716	0.90[CHB][hapmap];0.84[JPT][hapmap]
rs6485721	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6485722	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6485726	0.90[CHB][hapmap];0.83[JPT][hapmap]
rs6485739	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7103581	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7108427	0.81[ASN][1000 genomes]
rs7108902	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7111270	0.84[CHB][hapmap];0.84[JPT][hapmap]
rs7111764	0.81[ASN][1000 genomes]
rs7112854	0.89[CHB][hapmap];0.83[JPT][hapmap]
rs7118546	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7119952	0.83[ASN][1000 genomes]
rs7121418	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7124648	0.90[CHB][hapmap];0.83[JPT][hapmap]
rs7125807	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7126005	0.90[CHB][hapmap];0.83[JPT][hapmap]
rs7128325	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7128650	0.90[CHB][hapmap];0.83[JPT][hapmap]
rs7130006	0.90[CHB][hapmap]
rs7130947	0.90[CHB][hapmap];0.83[JPT][hapmap]
rs747650	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7479189	1.00[CEU][hapmap];0.96[YRI][hapmap];0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7931260	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs7935346	0.84[CHB][hapmap];0.81[JPT][hapmap]
rs7937101	0.94[CEU][hapmap];0.95[CHB][hapmap];0.82[JPT][hapmap];0.81[ASN][1000 genomes]
rs7937410	0.90[CHB][hapmap]
rs7937950	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7938169	0.90[CHB][hapmap];0.83[JPT][hapmap]
rs7940240	0.90[CHB][hapmap]
rs7940441	0.80[CHB][hapmap]
rs7942473	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7945315	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7945558	0.90[CHB][hapmap];0.83[JPT][hapmap]
rs7946709	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7947878	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7950753	0.90[CHB][hapmap];0.83[JPT][hapmap]
rs923324	0.84[CHB][hapmap];0.85[JPT][hapmap]
rs9633886	0.83[ASN][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	nsv1043108	chr11:47041565-47117248	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv508627	chr11:47052659-47084007	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11039074	CTD-2384B9.1	cis	Nerve Tibial	GTEx

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47061400-47082800	Weak transcription	Brain Angular Gyrus	brain
2	chr11:47068400-47092400	Weak transcription	Duodenum Mucosa	Duodenum
3	chr11:47071600-47089000	Weak transcription	Gastric	stomach
4	chr11:47072200-47082000	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr11:47072600-47093000	Weak transcription	Ovary	ovary
6	chr11:47072800-47082200	Weak transcription	A549	lung
7	chr11:47072800-47093000	Weak transcription	Brain Hippocampus Middle	brain
8	chr11:47073200-47082600	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr11:47073200-47092400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr11:47073600-47088600	Weak transcription	Fetal Muscle Trunk	muscle
11	chr11:47073800-47083800	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr11:47073800-47092200	Weak transcription	Placenta	Placenta
13	chr11:47073800-47100200	Weak transcription	Thymus	Thymus
14	chr11:47074600-47082200	Weak transcription	Brain Substantia Nigra	brain
15	chr11:47074600-47082800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr11:47075200-47087400	Weak transcription	Brain Cingulate Gyrus	brain
17	chr11:47075200-47093400	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr11:47075400-47082800	Weak transcription	Esophagus	oesophagus
19	chr11:47075800-47093400	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr11:47077600-47085800	Weak transcription	HepG2	liver
21	chr11:47077600-47113200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr11:47077800-47082200	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr11:47077800-47088200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr11:47078000-47082200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr11:47078000-47097000	Weak transcription	Aorta	Aorta
26	chr11:47078200-47082200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr11:47078200-47093200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr11:47078400-47082000	Weak transcription	HSMM	muscle
29	chr11:47078400-47082000	Weak transcription	Osteobl	bone
30	chr11:47078400-47082200	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr11:47078400-47082400	Weak transcription	NHLF	lung
32	chr11:47078400-47092400	Weak transcription	Small Intestine	intestine
33	chr11:47078600-47082200	Weak transcription	NH-A	brain
34	chr11:47078600-47082200	Weak transcription	NHDF-Ad	bronchial
35	chr11:47078600-47082400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr11:47078600-47092600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr11:47078800-47082400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
38	chr11:47079000-47082000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr11:47079200-47082000	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr11:47079200-47082000	Weak transcription	HSMMtube	muscle
41	chr11:47079400-47082000	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr11:47079400-47082200	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr11:47079400-47082200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr11:47079400-47082200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr11:47079400-47082400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr11:47079400-47093000	Weak transcription	Fetal Brain Male	brain
47	chr11:47079600-47082200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr11:47079600-47082200	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr11:47079800-47082000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr11:47079800-47082400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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