Variant report

Variant	rs2508441
Chromosome Location	chr11:57375424-57375425
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1557522	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2081362	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2244169	0.86[ASN][1000 genomes]
rs2454660	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2508443	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2509897	0.89[ASN][1000 genomes]
rs2511989	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2511990	0.89[ASN][1000 genomes]
rs2511991	0.89[ASN][1000 genomes]
rs2511993	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2511994	0.93[EUR][1000 genomes]
rs2511996	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2649664	0.89[ASN][1000 genomes]
rs2729376	0.89[ASN][1000 genomes]
rs2848627	0.89[ASN][1000 genomes]
rs2926664	0.89[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	nsv530621	chr11:57139699-57703639	Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
4	nsv832163	chr11:57299354-57481050	Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
5	nsv1040913	chr11:57315006-57696122	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2508441	TIMM10	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:57366200-57379000	Weak transcription	Gastric	stomach
2	chr11:57366400-57381800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr11:57366400-57385800	Weak transcription	Esophagus	oesophagus
4	chr11:57366600-57378800	Weak transcription	Colonic Mucosa	Colon
5	chr11:57366600-57382600	Weak transcription	Brain Substantia Nigra	brain
6	chr11:57366600-57384400	Weak transcription	Pancreas	Pancrea
7	chr11:57366800-57380800	Weak transcription	Brain Anterior Caudate	brain
8	chr11:57366800-57381600	Weak transcription	Rectal Smooth Muscle	rectum
9	chr11:57366800-57381600	Weak transcription	Osteobl	bone
10	chr11:57366800-57386600	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr11:57366800-57388800	Weak transcription	Brain Cingulate Gyrus	brain
12	chr11:57367000-57387400	Weak transcription	NHDF-Ad	bronchial
13	chr11:57367200-57378800	Weak transcription	Right Ventricle	heart
14	chr11:57367200-57379200	Weak transcription	Fetal Intestine Large	intestine
15	chr11:57367200-57380600	Weak transcription	Fetal Brain Male	brain
16	chr11:57367200-57380600	Weak transcription	Fetal Kidney	kidney
17	chr11:57367400-57377400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr11:57367400-57381600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr11:57369000-57385200	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr11:57369800-57383400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr11:57369800-57383400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr11:57370000-57379000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr11:57370000-57385200	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr11:57372000-57379200	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr11:57372200-57377400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr11:57372200-57379000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr11:57372200-57384600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
28	chr11:57372600-57384400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr11:57372800-57375600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr11:57372800-57382600	Weak transcription	Fetal Thymus	thymus
31	chr11:57372800-57383200	Strong transcription	Fetal Muscle Leg	muscle
32	chr11:57372800-57386600	Weak transcription	Primary hematopoietic stem cells	blood
33	chr11:57373000-57383000	Strong transcription	Ovary	ovary
34	chr11:57373000-57383200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr11:57373200-57375600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr11:57373200-57375600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr11:57373200-57375800	Strong transcription	Adipose Nuclei	Adipose
38	chr11:57373200-57376200	Strong transcription	Aorta	Aorta
39	chr11:57373200-57377200	Strong transcription	Fetal Stomach	stomach
40	chr11:57373200-57384400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr11:57373200-57384400	Strong transcription	Fetal Lung	lung
42	chr11:57373400-57375600	Strong transcription	HUES64 Cell Line	embryonic stem cell
43	chr11:57373400-57375600	Strong transcription	Duodenum Smooth Muscle	Duodenum
44	chr11:57373400-57375600	Strong transcription	Fetal Muscle Trunk	muscle
45	chr11:57373400-57376000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr11:57373800-57375600	Strong transcription	Colon Smooth Muscle	Colon
47	chr11:57373800-57379000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr11:57373800-57380600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr11:57373800-57383400	Weak transcription	NHLF	lung
50	chr11:57373800-57391600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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