Variant report

Variant	rs2342388
Chromosome Location	chr11:5692551-5692552
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs1566281	1.00[AMR][1000 genomes]
rs1566282	1.00[AMR][1000 genomes]
rs57857781	1.00[AMR][1000 genomes]
rs58515362	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs60425880	0.83[AMR][1000 genomes]
rs6578671	1.00[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	nsv1046068	chr11:5335943-6063742	Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
2	nsv896939	chr11:5497799-5809548	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
3	nsv553241	chr11:5506034-6203685	Genic enhancers Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
4	nsv1041568	chr11:5585716-5765688	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv1053414	chr11:5612989-6030212	Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
6	nsv530216	chr11:5614439-6468232	Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
7	nsv553273	chr11:5639873-5871831	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:5647000-5698800	Weak transcription	Colonic Mucosa	Colon
2	chr11:5649200-5695600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr11:5664000-5699400	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr11:5666400-5699400	Weak transcription	Left Ventricle	heart
5	chr11:5674800-5705400	Weak transcription	Psoas Muscle	Psoas
6	chr11:5676000-5699400	Weak transcription	Pancreas	Pancrea
7	chr11:5678000-5699400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr11:5681400-5699400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr11:5681600-5699400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr11:5682600-5693800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
11	chr11:5682800-5693000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr11:5682800-5693800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr11:5682800-5696400	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr11:5682800-5696800	Strong transcription	Liver	Liver
15	chr11:5683000-5695800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr11:5683600-5692600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr11:5683800-5696800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr11:5683800-5696800	Strong transcription	Primary monocytes fromperipheralblood	blood
19	chr11:5684000-5700000	Weak transcription	Right Ventricle	heart
20	chr11:5684000-5705400	Weak transcription	Brain Substantia Nigra	brain
21	chr11:5684200-5705400	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr11:5684400-5695600	Weak transcription	Gastric	stomach
23	chr11:5684400-5698800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr11:5684600-5692600	Strong transcription	Dnd41	blood
25	chr11:5684600-5699200	Weak transcription	Rectal Smooth Muscle	rectum
26	chr11:5684600-5699400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr11:5684600-5703600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr11:5684800-5699200	Weak transcription	Brain Anterior Caudate	brain
29	chr11:5684800-5699400	Weak transcription	NHDF-Ad	bronchial
30	chr11:5685000-5696800	Strong transcription	Primary B cells from peripheral blood	blood
31	chr11:5685200-5693800	Strong transcription	Fetal Intestine Large	intestine
32	chr11:5685200-5696800	Strong transcription	Primary T cells fromperipheralblood	blood
33	chr11:5685200-5699200	Weak transcription	HepG2	liver
34	chr11:5685400-5692600	Strong transcription	Primary T helper cells PMA-I stimulated	--
35	chr11:5685400-5692600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr11:5685400-5705400	Weak transcription	Stomach Mucosa	stomach
37	chr11:5685600-5693000	Strong transcription	Primary T helper cells fromperipheralblood	blood
38	chr11:5685600-5693000	Strong transcription	GM12878-XiMat	blood
39	chr11:5685600-5693800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr11:5685600-5696200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr11:5686200-5699000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr11:5686600-5695800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr11:5686800-5699000	Weak transcription	NHLF	lung
44	chr11:5687200-5695600	Weak transcription	Esophagus	oesophagus
45	chr11:5687200-5699000	Weak transcription	K562	blood
46	chr11:5687200-5699400	Weak transcription	H9 Cell Line	embryonic stem cell
47	chr11:5687200-5699400	Weak transcription	Small Intestine	intestine
48	chr11:5687200-5699400	Weak transcription	HMEC	breast
49	chr11:5687400-5698800	Weak transcription	HSMMtube	muscle
50	chr11:5687600-5695600	Weak transcription	Aorta	Aorta

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