Variant report

Variant	rs2957504
Chromosome Location	chr11:34226610-34226611
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:34224684..34227193-chr11:34228730..34230616,2	K562	blood:
2	chr11:34224648..34227495-chr11:34231430..34234571,3	K562	blood:
3	chr11:34225108..34229701-chr11:34377567..34379685,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000166016	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs2955943	0.88[AFR][1000 genomes]
rs2955944	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2955946	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2957498	0.86[AFR][1000 genomes]
rs2957499	0.86[AFR][1000 genomes]
rs2957500	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2957503	1.00[AMR][1000 genomes]
rs2982597	0.88[AFR][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	esv2757435	chr11:34220504-34370236	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	esv2759816	chr11:34220504-34370236	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:34203400-34228200	Weak transcription	Psoas Muscle	Psoas
2	chr11:34208200-34235200	Weak transcription	Adipose Nuclei	Adipose
3	chr11:34214600-34228000	Weak transcription	Brain Angular Gyrus	brain
4	chr11:34215000-34228200	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr11:34215000-34228400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr11:34215000-34235800	Weak transcription	Brain Anterior Caudate	brain
7	chr11:34215200-34227400	Weak transcription	Brain Substantia Nigra	brain
8	chr11:34215200-34228200	Weak transcription	Duodenum Mucosa	Duodenum
9	chr11:34215600-34228200	Weak transcription	Right Atrium	heart
10	chr11:34215600-34232600	Weak transcription	Fetal Brain Female	brain
11	chr11:34216000-34228200	Weak transcription	Brain Cingulate Gyrus	brain
12	chr11:34216600-34228400	Weak transcription	Lung	lung
13	chr11:34218800-34228200	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr11:34218800-34236600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr11:34219000-34228000	Weak transcription	Fetal Intestine Small	intestine
16	chr11:34219000-34240800	Weak transcription	Left Ventricle	heart
17	chr11:34219200-34236600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr11:34223400-34227800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr11:34223400-34228000	Weak transcription	Brain Hippocampus Middle	brain
20	chr11:34223800-34226800	Weak transcription	Fetal Brain Male	brain
21	chr11:34223800-34228000	Weak transcription	Fetal Lung	lung
22	chr11:34224600-34228200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr11:34224600-34229200	Enhancers	H1 Cell Line	embryonic stem cell
24	chr11:34224800-34226800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr11:34224800-34226800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr11:34224800-34227000	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr11:34224800-34227400	Enhancers	NH-A	brain
28	chr11:34224800-34228400	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr11:34224800-34228800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr11:34224800-34230200	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr11:34225000-34226800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
32	chr11:34225000-34226800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr11:34225000-34228000	Weak transcription	HSMMtube	muscle
34	chr11:34225200-34227000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr11:34225200-34228200	Weak transcription	Fetal Muscle Trunk	muscle
36	chr11:34225200-34228200	Enhancers	HepG2	liver
37	chr11:34225400-34227000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr11:34225400-34228200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr11:34225400-34230000	Weak transcription	Right Ventricle	heart
40	chr11:34225600-34226800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr11:34225600-34226800	Weak transcription	Fetal Kidney	kidney
42	chr11:34225600-34227200	Enhancers	NHEK	skin
43	chr11:34225600-34227600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr11:34225600-34227800	Weak transcription	Primary monocytes fromperipheralblood	blood
45	chr11:34225600-34227800	Weak transcription	Monocytes-CD14+_RO01746	blood
46	chr11:34225600-34228000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr11:34225600-34228000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr11:34225600-34228000	Weak transcription	Ovary	ovary
49	chr11:34225600-34228200	Weak transcription	Primary hematopoietic stem cells	blood
50	chr11:34225600-34228200	Weak transcription	GM12878-XiMat	blood

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