Variant report

Variant	rs2232299
Chromosome Location	chr6:142468449-142468450
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs2232294	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58223604	1.00[AMR][1000 genomes]
rs58545531	1.00[AMR][1000 genomes]
rs73572396	1.00[AMR][1000 genomes]
rs73572398	1.00[AMR][1000 genomes]
rs73573650	1.00[AMR][1000 genomes]
rs73573653	1.00[AMR][1000 genomes]
rs73573665	1.00[AMR][1000 genomes]
rs73573688	1.00[AMR][1000 genomes]
rs73574224	1.00[AMR][1000 genomes]
rs73574240	1.00[AMR][1000 genomes]
rs73576259	1.00[AMR][1000 genomes]
rs73578320	1.00[AMR][1000 genomes]
rs73578323	1.00[AMR][1000 genomes]
rs73579801	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73581604	1.00[AMR][1000 genomes]
rs73581617	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73581623	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73587870	1.00[AMR][1000 genomes]
rs73587886	1.00[AMR][1000 genomes]
rs73588179	1.00[AMR][1000 genomes]
rs73590005	1.00[AMR][1000 genomes]
rs73590065	1.00[AMR][1000 genomes]
rs73590081	1.00[AMR][1000 genomes]
rs9484604	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv886732	chr6:142290338-142536049	Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Enhancers Active TSS Strong transcription 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	20 gene(s)	inside rSNPs	diseases
2	nsv886733	chr6:142316672-142514226	Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv886734	chr6:142347611-142523865	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv830824	chr6:142361107-142544929	Genic enhancers Strong transcription ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer 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	19 gene(s)	inside rSNPs	diseases
5	nsv886735	chr6:142365171-142472294	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
6	nsv886736	chr6:142365171-142523865	Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:142467200-142469000	Active TSS	Brain Anterior Caudate	brain
2	chr6:142467200-142469000	Active TSS	Fetal Heart	heart
3	chr6:142467200-142469200	Active TSS	Skeletal Muscle Female	skeletal muscle
4	chr6:142467400-142468800	Active TSS	Fetal Brain Male	brain
5	chr6:142467400-142469000	Active TSS	Brain Angular Gyrus	brain
6	chr6:142467400-142469000	Active TSS	Brain Hippocampus Middle	brain
7	chr6:142467400-142469000	Active TSS	Brain Inferior Temporal Lobe	brain
8	chr6:142467400-142469000	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr6:142467400-142469000	Active TSS	Fetal Lung	lung
10	chr6:142467400-142469200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr6:142467400-142469200	Active TSS	Colon Smooth Muscle	Colon
12	chr6:142467400-142469200	Active TSS	Rectal Mucosa Donor 29	rectum
13	chr6:142467400-142469200	Active TSS	Stomach Smooth Muscle	stomach
14	chr6:142467600-142468600	Active TSS	Primary hematopoietic stem cells	blood
15	chr6:142467600-142468800	Active TSS	Brain Substantia Nigra	brain
16	chr6:142467600-142468800	Active TSS	Duodenum Mucosa	Duodenum
17	chr6:142467600-142469000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr6:142467600-142469000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr6:142467600-142469000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr6:142467600-142469000	Active TSS	Brain Cingulate Gyrus	brain
21	chr6:142467600-142469000	Active TSS	Duodenum Smooth Muscle	Duodenum
22	chr6:142467600-142469000	Active TSS	Fetal Stomach	stomach
23	chr6:142467600-142469200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr6:142467600-142469200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
25	chr6:142467600-142469200	Active TSS	Skeletal Muscle Male	skeletal muscle
26	chr6:142467600-142469200	Active TSS	HMEC	breast
27	chr6:142467600-142469200	Active TSS	NHDF-Ad	bronchial
28	chr6:142467600-142469400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr6:142467600-142469400	Active TSS	HUES48 Cell Line	embryonic stem cell
30	chr6:142467600-142469400	Active TSS	Breast Myoepithelial Primary Cells	Breast
31	chr6:142467600-142469400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr6:142467600-142469400	Active TSS	Brain Germinal Matrix	brain
33	chr6:142467600-142469400	Active TSS	Fetal Intestine Small	intestine
34	chr6:142467600-142469400	Active TSS	Rectal Mucosa Donor 31	rectum
35	chr6:142467600-142469400	Active TSS	K562	blood
36	chr6:142467600-142469400	Active TSS	NHLF	lung
37	chr6:142467600-142469600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr6:142467600-142469800	Active TSS	Fetal Kidney	kidney
39	chr6:142467600-142470200	Active TSS	Right Atrium	heart
40	chr6:142467600-142470800	Active TSS	GM12878-XiMat	blood
41	chr6:142467800-142468600	Active TSS	Primary monocytes fromperipheralblood	blood
42	chr6:142467800-142468600	Active TSS	Primary B cells from peripheral blood	blood
43	chr6:142467800-142468800	Active TSS	Cortex derived primary cultured neurospheres	brain
44	chr6:142467800-142468800	Active TSS	Fetal Brain Female	brain
45	chr6:142467800-142469000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr6:142467800-142469000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr6:142467800-142469000	Active TSS	Fetal Thymus	thymus
48	chr6:142467800-142469000	Active TSS	Rectal Smooth Muscle	rectum
49	chr6:142467800-142469200	Active TSS	iPS-18 Cell Line	embryonic stem cell
50	chr6:142467800-142469200	Active TSS	Primary T cells fromperipheralblood	blood

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