Variant report

Variant	rs1123306
Chromosome Location	chr11:57826590-57826591
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs1013447	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10792127	0.85[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs10792130	0.83[AFR][1000 genomes];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10896696	0.82[EUR][1000 genomes]
rs11229236	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11229237	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1123196	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1123307	0.82[EUR][1000 genomes]
rs1545459	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1562863	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2003375	0.82[EUR][1000 genomes]
rs2100110	0.91[AFR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2167357	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2167358	0.82[EUR][1000 genomes]
rs2218598	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2441960	0.85[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs2441961	0.84[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs2441972	0.91[AFR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2441977	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2441979	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2443445	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2443449	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2443450	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2513705	0.85[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs2513713	0.85[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs2513726	0.84[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs2513727	0.83[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs2513728	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2513729	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2513730	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2514181	0.83[AFR][1000 genomes]
rs2514186	0.83[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs2514187	0.83[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs2514191	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2514199	0.99[AFR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2514202	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4939176	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7111942	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7119421	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs896300	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs921132	0.85[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs921134	0.85[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs921135	0.87[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs971066	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs976429	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs976430	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044030	chr11:57073395-58035564	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
2	nsv541047	chr11:57073395-58035564	Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
3	nsv1054205	chr11:57544264-58358509	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
4	nsv897589	chr11:57623815-58052357	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
5	nsv832165	chr11:57806024-58009076	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:57823600-57828400	Enhancers	HepG2	liver
2	chr11:57824600-57830000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr11:57824600-57830600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr11:57824800-57826800	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr11:57824800-57830000	Enhancers	Placenta Amnion	Placenta Amnion
6	chr11:57824800-57830200	Enhancers	NHLF	lung
7	chr11:57825000-57826800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr11:57825000-57826800	Enhancers	Placenta	Placenta
9	chr11:57825000-57830200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr11:57825000-57830600	Enhancers	HMEC	breast
11	chr11:57825200-57826800	Enhancers	H1 Cell Line	embryonic stem cell
12	chr11:57825200-57830600	Enhancers	NHEK	skin
13	chr11:57825400-57826800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr11:57825400-57828800	Enhancers	Fetal Heart	heart
15	chr11:57825400-57830000	Enhancers	Muscle Satellite Cultured Cells	--
16	chr11:57825600-57826600	Enhancers	Stomach Smooth Muscle	stomach
17	chr11:57825600-57826800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr11:57825600-57826800	Enhancers	Left Ventricle	heart
19	chr11:57825600-57826800	Enhancers	Skeletal Muscle Male	skeletal muscle
20	chr11:57825600-57826800	Enhancers	NH-A	brain
21	chr11:57825600-57827000	Enhancers	Fetal Muscle Trunk	muscle
22	chr11:57825600-57827000	Enhancers	HUVEC	blood vessel
23	chr11:57825600-57827600	Enhancers	Fetal Muscle Leg	muscle
24	chr11:57825800-57826600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr11:57825800-57826600	Enhancers	Adipose Nuclei	Adipose
26	chr11:57825800-57826600	Enhancers	Ovary	ovary
27	chr11:57825800-57826600	Enhancers	Osteobl	bone
28	chr11:57825800-57826800	Enhancers	Colon Smooth Muscle	Colon
29	chr11:57825800-57826800	Enhancers	Fetal Lung	lung
30	chr11:57825800-57827000	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr11:57825800-57827600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr11:57825800-57828600	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr11:57825800-57829600	Enhancers	Fetal Intestine Large	intestine
34	chr11:57825800-57830000	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr11:57826000-57826600	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr11:57826000-57826600	Enhancers	Skeletal Muscle Female	skeletal muscle
37	chr11:57826000-57826600	Flanking Active TSS	HSMMtube	muscle
38	chr11:57826000-57826800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr11:57826000-57826800	Enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr11:57826000-57826800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
41	chr11:57826000-57827200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr11:57826000-57828600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr11:57826200-57826600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
44	chr11:57826200-57826600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
45	chr11:57826200-57826600	Enhancers	iPS-20b Cell Line	embryonic stem cell
46	chr11:57826200-57826600	Enhancers	Brain Cingulate Gyrus	brain
47	chr11:57826200-57826600	Enhancers	Fetal Stomach	stomach
48	chr11:57826200-57826600	Enhancers	A549	lung
49	chr11:57826200-57826800	Enhancers	H9 Cell Line	embryonic stem cell
50	chr11:57826200-57826800	Enhancers	iPS-15b Cell Line	embryonic stem cell

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