Variant report

Variant	rs1557522
Chromosome Location	chr11:57381519-57381520
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:57380572..57382335-chr11:57394252..57397016,2	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1647396	0.92[AFR][1000 genomes]
rs1783826	0.87[AFR][1000 genomes]
rs2081362	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2244169	0.86[ASN][1000 genomes]
rs2454660	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2508441	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2508443	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2509897	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2511989	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2511990	0.83[ASN][1000 genomes]
rs2511991	0.83[ASN][1000 genomes]
rs2511993	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2511994	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2511996	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2649664	0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2729376	0.83[ASN][1000 genomes]
rs2848627	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2926664	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[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:3)

SNP	Gene	Cis/trans	Tissue	Source
rs1557522	TIMM10	cis	Esophagus Mucosa	GTEx
rs1557522	TIMM10	cis	Esophagus Muscularis	GTEx
rs1557522	TIMM10	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:57366400-57381800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr11:57366400-57385800	Weak transcription	Esophagus	oesophagus
3	chr11:57366600-57382600	Weak transcription	Brain Substantia Nigra	brain
4	chr11:57366600-57384400	Weak transcription	Pancreas	Pancrea
5	chr11:57366800-57381600	Weak transcription	Rectal Smooth Muscle	rectum
6	chr11:57366800-57381600	Weak transcription	Osteobl	bone
7	chr11:57366800-57386600	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr11:57366800-57388800	Weak transcription	Brain Cingulate Gyrus	brain
9	chr11:57367000-57387400	Weak transcription	NHDF-Ad	bronchial
10	chr11:57367400-57381600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr11:57369000-57385200	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr11:57369800-57383400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr11:57369800-57383400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr11:57370000-57385200	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr11:57372200-57384600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
16	chr11:57372600-57384400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr11:57372800-57382600	Weak transcription	Fetal Thymus	thymus
18	chr11:57372800-57383200	Strong transcription	Fetal Muscle Leg	muscle
19	chr11:57372800-57386600	Weak transcription	Primary hematopoietic stem cells	blood
20	chr11:57373000-57383000	Strong transcription	Ovary	ovary
21	chr11:57373000-57383200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr11:57373200-57384400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr11:57373200-57384400	Strong transcription	Fetal Lung	lung
24	chr11:57373800-57383400	Weak transcription	NHLF	lung
25	chr11:57373800-57391600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr11:57374000-57386000	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr11:57374400-57384200	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr11:57377000-57383200	Strong transcription	Duodenum Smooth Muscle	Duodenum
29	chr11:57377200-57383200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr11:57377200-57384000	Genic enhancers	Liver	Liver
31	chr11:57377200-57384400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr11:57377200-57384400	Strong transcription	Adipose Nuclei	Adipose
33	chr11:57377200-57384800	Weak transcription	Psoas Muscle	Psoas
34	chr11:57377400-57383200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr11:57377400-57383200	Strong transcription	Colon Smooth Muscle	Colon
36	chr11:57377400-57384600	Strong transcription	Fetal Muscle Trunk	muscle
37	chr11:57377400-57384600	Strong transcription	Stomach Smooth Muscle	stomach
38	chr11:57377600-57383200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr11:57377600-57387200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr11:57377800-57384200	Strong transcription	Lung	lung
41	chr11:57378000-57384400	Strong transcription	Fetal Stomach	stomach
42	chr11:57378200-57383200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
43	chr11:57378200-57384200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr11:57378800-57382600	Strong transcription	HUES64 Cell Line	embryonic stem cell
45	chr11:57378800-57382800	Strong transcription	Brain Germinal Matrix	brain
46	chr11:57378800-57383000	Strong transcription	Aorta	Aorta
47	chr11:57378800-57383200	Strong transcription	Left Ventricle	heart
48	chr11:57379000-57381600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
49	chr11:57379000-57381600	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr11:57379000-57382400	Strong transcription	HUES48 Cell Line	embryonic stem cell

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