Variant report

Variant	rs1783984
Chromosome Location	chr11:57429480-57429481
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:57427400..57431333-chr11:57432768..57435307,4	MCF-7	breast:
2	chr11:57423642..57427041-chr11:57427345..57431533,5	K562	blood:
3	chr11:57423095..57430151-chr11:57432283..57438412,24	K562	blood:
4	chr11:57427698..57431931-chr11:57435517..57438480,4	MCF-7	breast:
5	chr11:57429293..57431231-chr11:57440462..57442351,2	K562	blood:
6	chr11:57427688..57430465-chr11:57507788..57510350,2	K562	blood:

Variant related genes	Relation type
ENSG00000254732	Chromatin interaction
ENSG00000211450	Chromatin interaction
ENSG00000172409	Chromatin interaction
ENSG00000156599	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs1613592	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1624389	0.81[AMR][1000 genomes]
rs1631684	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1647394	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1647403	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1783827	0.88[AMR][1000 genomes]
rs1783828	0.88[AMR][1000 genomes]
rs1783829	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1783980	0.81[AMR][1000 genomes]
rs1783983	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1783985	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1785498	0.81[AMR][1000 genomes]
rs1798172	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1798173	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1798177	0.85[AMR][1000 genomes]
rs929934	0.82[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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
6	nsv832164	chr11:57407617-57578825	Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
7	nsv508633	chr11:57419585-57560045	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1783984	TIMM10	Cis_1M	lymphoblastoid	RTeQTL
rs1783984	YPEL4	cis	lung	GTEx

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:57426000-57434000	Weak transcription	Fetal Heart	heart
2	chr11:57426000-57434000	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr11:57426000-57434200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr11:57426000-57434200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr11:57426400-57430600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr11:57426400-57431400	Strong transcription	Fetal Stomach	stomach
7	chr11:57426600-57429800	Strong transcription	Fetal Intestine Small	intestine
8	chr11:57426600-57430600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
9	chr11:57426600-57430600	Strong transcription	Fetal Muscle Trunk	muscle
10	chr11:57426800-57430000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr11:57426800-57430200	Strong transcription	H1 Cell Line	embryonic stem cell
12	chr11:57426800-57430200	Strong transcription	K562	blood
13	chr11:57426800-57430400	Strong transcription	HUES48 Cell Line	embryonic stem cell
14	chr11:57426800-57430600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr11:57426800-57430600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr11:57426800-57430600	Strong transcription	Adipose Nuclei	Adipose
17	chr11:57426800-57430600	Strong transcription	Fetal Intestine Large	intestine
18	chr11:57426800-57430600	Strong transcription	Placenta	Placenta
19	chr11:57426800-57430600	Strong transcription	HSMM	muscle
20	chr11:57426800-57430800	Strong transcription	Primary monocytes fromperipheralblood	blood
21	chr11:57426800-57430800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr11:57426800-57430800	Strong transcription	Fetal Muscle Leg	muscle
23	chr11:57426800-57430800	Strong transcription	Rectal Mucosa Donor 29	rectum
24	chr11:57427000-57429600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr11:57427000-57429600	Strong transcription	Ovary	ovary
26	chr11:57427000-57429800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr11:57427000-57429800	Strong transcription	Right Ventricle	heart
28	chr11:57427000-57430200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
29	chr11:57427000-57430200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr11:57427000-57430200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr11:57427000-57430200	Strong transcription	Primary hematopoietic stem cells	blood
32	chr11:57427000-57430200	Strong transcription	Brain Angular Gyrus	brain
33	chr11:57427000-57430200	Strong transcription	Fetal Lung	lung
34	chr11:57427000-57430200	Strong transcription	HSMMtube	muscle
35	chr11:57427000-57430400	Strong transcription	HUES64 Cell Line	embryonic stem cell
36	chr11:57427000-57430400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr11:57427000-57430400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr11:57427000-57430400	Strong transcription	Primary neutrophils fromperipheralblood	blood
39	chr11:57427000-57430400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr11:57427000-57430400	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr11:57427000-57430400	Strong transcription	Brain Hippocampus Middle	brain
42	chr11:57427000-57430400	Strong transcription	Brain Inferior Temporal Lobe	brain
43	chr11:57427000-57430400	Strong transcription	Rectal Smooth Muscle	rectum
44	chr11:57427000-57430400	Strong transcription	HUVEC	blood vessel
45	chr11:57427000-57430600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr11:57427000-57430600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr11:57427000-57430600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr11:57427000-57430600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr11:57427000-57430600	Strong transcription	Muscle Satellite Cultured Cells	--
50	chr11:57427000-57430600	Strong transcription	Cortex derived primary cultured neurospheres	brain

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